@article{UBHD-68675941,
  author={Ahlemeyer, Barbara and K{\"o}lker, Stefan and Zhu, Yuan and Hoffmann, Georg F. and Krieglstein, Josef},
  title={Cytosine arabinofuranoside-induced activation of astrocytes increases the susceptibility of neurons to glutamate due to the release of soluble factors},
  year={2003},
  pages={567-581},
  language={eng},
  issn={1872-9754},
  volume={42},
  number={7},
  note={Gesehen am 22.12.2020},
  journal={Neurochemistry international},
  doi={10.1016/S0197-0186(02)00164-X},
}
@article{UBHD-68676227,
  author={Ahlemeyer, Barbara and K{\"o}lker, Stefan and Zhu, Yuan and Hoffmann, Georg F. and Krieglstein, Josef},
  title={Increase in glutamate-induced neurotoxicity by activated astrocytes involves stimulation of protein kinase C},
  year={2002},
  pages={504-515},
  language={eng},
  issn={1471-4159},
  volume={82},
  number={3},
  note={Gesehen am 28.12.2020},
  journal={Journal of neurochemistry},
  doi={10.1046/j.1471-4159.2002.00994.x},
}
@article{UBHD-68665531,
  author={Aidaros, Anas Al and Sharma, Charu and Langhans, Claus-Dieter and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and Dasouki, Majed and Chakraborty, Pranesh and Aljasmi, Fatma and Al-Dirbashi, Osama Y.},
  title={Targeted metabolomic profiling of total fatty acids in human plasma by liquid chromatography-tandem mass spectrometry},
  year={2020},
  pages={15 S.},
  language={eng},
  issn={2218-1989},
  volume={10(2020},
  note={Gesehen am 25.11.2020},
  journal={Metabolites},
  doi={10.3390/metabo10100400},
}
@article{UBHD-68570508,
  author={Al Dhahouri, Nahid and Langhans, Claus-Dieter and Al Hammadi, Zalikha and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and Al-Jasmi, Fatma and Al-Dirbashi, Osama Y.},
  title={Quantification of methylcitrate in dried urine spots by liquid chromatography tandem mass spectrometry for the diagnosis of propionic and methylmalonic acidemias},
  year={2018},
  pages={41-45},
  language={eng},
  issn={1873-3492},
  volume={487},
  note={Gesehen am 27.04.2020},
  journal={Clinica chimica acta},
  doi={10.1016/j.cca.2018.09.017},
}
@article{UBHD-68460171,
  author={Al-Dirbashi, Osama Y. and Langhans, Claus-Dieter and Okun, J{\"u}rgen G. and Hoffmann, Georg F.},
  title={Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism},
  year={2019},
  pages={7 S.},
  language={eng},
  issn={2045-2322},
  volume={9(2019) Artikel-Nummer 12366},
  number={7 Seiten},
  note={Gesehen am 26.11.2019},
  journal={Scientific reports},
  doi={10.1038/s41598-019-48885-9},
}
@article{UBHD-68883423,
  author={Al-Dirbashi, Osama Y. and K{\"o}lker, Stefan and Ng, Dione and Fisher, Lawrence and Rupar, Tony and Lepage, Nathalie and Rashed, Mohamed S. and Santa, Tomofumi and Goodman, Stephen I. and Geraghty, Michael T. and Zschocke, Johannes and Christensen, Ernst and Hoffmann, Georg F. and Chakraborty, Pranesh},
  title={Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry},
  year={2011},
  pages={173-180},
  language={eng},
  issn={1573-2665},
  volume={34},
  number={1},
  note={First published: 27 October 2010 ; Gesehen am 28.02.2022},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-010-9223-2},
}
@article{UBHD-68675865,
  author={Assmann, Birgit and Surtees, Robert and Hoffmann, Georg F.},
  title={Approach to the diagnosis of neurotransmitter diseases exemplified by the differential diagnosis of childhood-onset dystonia},
  year={2003},
  pages={S18-S24},
  language={eng},
  issn={1531-8249},
  volume={54},
  number={S6},
  note={Gesehen am 22.12.2020},
  journal={Annals of neurology},
  doi={10.1002/ana.10628},
}
@article{UBHD-68901322,
  author={Assmann, Birgit and Hackler, R. and Peters, Verena and Schaefer, J. R. and Arndt, T. and Mayatepek, Ertan and Jaeken, J. and Hoffmann, Georg F.},
  title={A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations},
  year={2001},
  pages={313-318},
  language={eng},
  issn={1439-1899},
  volume={32},
  number={06},
  note={Elektronische Reproduktion der Druck-Ausgabe 27. Februar 2002 ; Gesehen am 30.03.2022},
  journal={Neuropediatrics},
  doi={10.1055/s-2001-20407},
}
@article{UBHD-68902202,
  author={Assmann, Birgit and K{\"o}hler, Martin and Hoffmann, Georg F. and Heales, Simon and Surtees, Robert},
  title={Selective decrease in central nervous system serotonin turnover in children with dopa-nonresponsive dystonia},
  year={2002},
  pages={91-94},
  language={eng},
  issn={1530-0447},
  volume={52},
  number={1},
  note={Gesehen am 31.03.2022},
  journal={Pediatric research},
  doi={10.1203/00006450-200207000-00017},
}
@article{UBHD-68675911,
  author={Bandmann, Oliver and Goertz, M. and Zschocke, Johannes and Deuschl, G{\"u}nther and Jost, W. and Hefter, H. and M{\"u}ller, U. and Z{\"o}fel, P. and Hoffmann, Georg F. and Oertel, W.},
  title={The phenylalanine loading test in the differential diagnosis of dystonia},
  year={2003},
  pages={700-702},
  language={eng},
  issn={1526-632X},
  volume={60},
  number={4},
  note={Gesehen am 22.12.2020},
  journal={Neurology},
  doi={10.1212/01.WNL.0000048205.18445.98},
}
@article{UBHD-68664255,
  author={Bener, Abdulbari and Al Darwish, Mohammed S. and Tewfik, Ihab and Hoffmann, Georg F.},
  title={The impact of dietary and lifestyle factors on the risk of dental caries among young children in Qatar},
  year={2013},
  pages={67-73},
  language={eng},
  issn={2090-262X},
  volume={88},
  number={2},
  note={Gesehen am 23.11.2020},
  journal={Journal of the Egyptian Public Health Association},
  doi={10.1097/01.EPX.0000430962.70261.8e},
}
@article{UBHD-68240935,
  author={Bener, Abdulbari and Hoffmann, Georg F.},
  title={Iron and vitamin D levels among autism spectrum disorders children},
  year={2017},
  pages={186-191},
  language={eng},
  issn={0975-5764},
  volume={16},
  number={4},
  note={Gesehen am 09.04.2018},
  journal={Annals of African medicine},
  doi={10.4103/aam.aam_17_17},
}
@book{UBHD-67973994,
  author={Bener, Abdulbari and Hoffmann, Georg F.},
  title={Nutritional rickets among children in a sun rich country (clinical study)},
  publisher={Hindawi; Springer},
  address={New York; Berlin; Heidelberg},
  year={2016},
  pages={1 Online-Ressource},
  language={eng},
  note={Aus: International Journal of Pediatric Endocrinology, New York; Berlin; Heidelberg (2010), pp. 1-7. ISSN 1687-9856 ; Gesehen am 02.05.2016},
  url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-204800},
  library={UB},
}
@book{UBHD-68377278,
  author={Biederer, J{\"u}rgen and Dalpke, Alexander and D{\"u}rr, Julia and Fritzsching, Benedikt and Haberkorn, Uwe and Hoffmann, Georg F. and Kauczor, Hans-Ulrich and Mairb{\"a}url, Heimo and Muckenthaler, Martina and Mall, Marcus A. and Sommerburg, Olaf and Stahl, Mirjam and Stiller, Wolfram and Teucher, Birgit and Warth, Arne and Wielp{\"u}tz, Mark Oliver},
  organization={Deutsches Zentrum f{\"u}r Lungenforschung and Universit{\"a}tsklinikum Heidelberg and Universit{\"a}t Heidelberg},
  title={Deutsches Zentrum f{\"u}r Lungenforschung (DZL)},
  subtitle={Schlussbericht : F{\"o}rderperiode: 1.10.2011-31.12.2015},
  publisher={Universit{\"a}tsklinikum Heidelberg},
  address={Heidelberg},
  year={2016},
  pages={94, 2 ungez{\"a}hlte Bl{\"a}tter},
  language={ger},
  note={F{\"o}rderkennzeichen BMBF 82DZL00401 ; Unterschiede zwischen dem gedruckten Dokument und der elektronischen Ressource k{\"o}nnen nicht ausgeschlossen werden},
  keywords={Lungenkrankheit / Bildgebendes Verfahren},
}
@book{UBHD-68377279,
  author={Biederer, J{\"u}rgen and Dalpke, Alexander and D{\"u}rr, Julia and Fritzsching, Benedikt and Haberkorn, Uwe and Hoffmann, Georg F. and Kauczor, Hans-Ulrich and Mairb{\"a}url, Heimo and Muckenthaler, Martina and Mall, Marcus A. and Sommerburg, Olaf and Stahl, Mirjam and Stiller, Wolfram and Teucher, Birgit and Warth, Arne and Wielp{\"u}tz, Mark Oliver},
  organization={Deutsches Zentrum f{\"u}r Lungenforschung and Universit{\"a}tsklinikum Heidelberg and Universit{\"a}t Heidelberg},
  title={Deutsches Zentrum f{\"u}r Lungenforschung (DZL)},
  subtitle={Schlussbericht : F{\"o}rderperiode: 1.10.2011-31.12.2015},
  publisher={Universit{\"a}tsklinikum Heidelberg},
  address={Heidelberg},
  year={2016},
  pages={1 Online-Ressource (97 Seiten, 899 KB)},
  language={ger},
  note={F{\"o}rderkennzeichen BMBF 82DZL00401 ; Unterschiede zwischen dem gedruckten Dokument und der elektronischen Ressource k{\"o}nnen nicht ausgeschlossen werden},
  doi={10.2314/GBV:873672542},
  keywords={Lungenkrankheit / Bildgebendes Verfahren},
}
@article{UBHD-69351844,
  author={Blankenstein, Oliver and H{\"a}rtel, Christoph and Hoefele, Julia and Hoffmann, Georg F. and H{\"o}rster, Friederike and Lawrenz, Burkhard and Lotz-Havla, Amelie and Maier, Esther and Sommerburg, Olaf and Speckmann, Carsten and Urschitz, Michael S.},
  title={Erweiterung des Neugeborenenscreenings durch kommerzielle Anbieter},
  subtitle={Stellungnahme der Screeningkommission der Deutschen Gesellschaft f{\"u}r Kinder- und Jugendmedizin},
  year={2024},
  pages={1001-1003},
  language={ger},
  issn={1433-0474},
  volume={172},
  number={11},
  note={Gesehen am 03.06.2025},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-024-02061-0},
}
@article{UBHD-68438267,
  author={Blau, Nenad and Hoffmann, Georg F.},
  title={DNAJC12 deficiency},
  subtitle={A new strategy in the diagnosis of hyperphenylalaninemias},
  year={2018},
  pages={1-5},
  language={eng},
  issn={1096-7206},
  volume={123},
  number={1},
  note={Gesehen am 10.10.2019 ; Available online 20 November 2017 ; DOI funktioniert nicht},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2017.11.005},
}
@article{UBHD-68678657,
  author={B{\"o}hler, Thomas and Kr{\"a}mer, Thomas and Janecke, Andreas and Hoffmann, Georg F. and Linderkamp, Otwin},
  title={Increased energy expenditure and fecal fat excretion do not impair weight gain in small-for-gestational-age preterm infants},
  year={1999},
  pages={223-234},
  language={eng},
  issn={1872-6232},
  volume={54},
  number={3},
  note={Gesehen am 11.01.2021},
  journal={Early human development},
  doi={10.1016/S0378-3782(98)00097-8},
}
@article{UBHD-67600211,
  author={Bosse, Hans-Martin and Nikendei, Christoph and Hoffmann, Katja and Kraus, Bernd and Huwendiek, S{\"o}ren and Hoffmann, Georg F. and J{\"u}nger, Jana and Schultz, Jobst-Hendrik},
  title={Kommunikationsschulung mittels "Standardisierter Eltern" f{\"u}r {\"A}rzte im Fachbereich der P{\"a}diatrie},
  subtitle={strukturierte Kompetenzvermittlung im Rahmen der {\"a}rztlichen Weiterbildung},
  year={2007},
  pages={661-666},
  language={ger},
  issn={1431-7621},
  volume={101},
  number={10},
  journal={Zeitschrift f{\"u}r {\"a}rztliche Fortbildung und Qualit{\"a}t im Gesundheitswesen},
}
@article{UBHD-67925106,
  author={Boy, Nikolas and Heringer-Seifert, Jana and Haege, Gisela and Hoffmann, Georg F. and K{\"o}lker, Stefan and Burgard, Peter},
  title={A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I},
  year={2015},
  language={eng},
  issn={1750-1172},
  volume={10(2015) Artikel-Nr. 163},
  number={12 S.},
  note={Gesehen am 14.01.2016},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-015-0379-6},
  url={http://dx.doi.org/10.1186/s13023-015-0379-6},
  library={UB},
}
@book{UBHD-67994938,
  author={Boy, Nikolas and Heringer-Seifert, Jana and Haege, Gisela and Glahn, Esther M. and Hoffmann, Georg F. and K{\"o}lker, Stefan and Burgard, Peter},
  title={A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I},
  publisher={BioMed Central},
  address={London},
  year={2016},
  pages={1 Online-Ressource (12 Seiten)},
  language={eng},
  note={Aus: Orphanet Journal of Rare Diseases, 10 (2015), Nr. 163. pp. 1-12. ISSN 1750-1172},
  doi={10.1186/s13023-015-0379-6},
  url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-200399},
  library={UB},
}
@article{UBHD-68794204,
  author={Boy, Nikolas and Mengler, Katharina and Heringer-Seifert, Jana and Hoffmann, Georg F. and Garbade, Sven and K{\"o}lker, Stefan},
  title={Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1},
  subtitle={a meta-analysis},
  year={2021},
  pages={13-21},
  language={eng},
  issn={1530-0366},
  volume={23},
  number={1},
  note={Published: 28 September 2020 ; Gesehen am 27.10.2021},
  journal={Genetics in medicine},
  doi={10.1038/s41436-020-00971-4},
  url={https://doi.org/10.1038/s41436-020-00971-4},
  library={UB},
}
@article{UBHD-68257727,
  author={Boy, Nikolas and Haege, Gisela and Heringer-Seifert, Jana and Assmann, Birgit and Hoffmann, Georg F. and M{\"u}ller, Edith and Burgard, Peter and K{\"o}lker, Stefan},
  title={Low lysine diet in glutaric aciduria type I - effect on anthropometric and biochemical follow-up parameters},
  year={2013},
  pages={525-533},
  language={eng},
  issn={1573-2665},
  volume={36},
  number={3},
  note={First Online: 13 September 2012 ; Gesehen am 05.06.2018},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-012-9517-7},
}
@article{UBHD-68409703,
  author={Boy, Nikolas and Heringer-Seifert, Jana and Hoffmann, Georg F. and Garbade, Sven and K{\"o}lker, Stefan},
  title={Newborn screening},
  subtitle={a disease-changing intervention for glutaric aciduria type 1},
  year={2018},
  pages={970-979},
  language={eng},
  issn={1531-8249},
  volume={83},
  number={5},
  note={Gesehen am 18.07.2019},
  journal={Annals of neurology},
  doi={10.1002/ana.25233},
}
@article{UBHD-68257733,
  author={Boy, Nikolas and Heringer-Seifert, Jana and Assmann, Birgit and Burgard, Peter and Harting, Inga and Hoffmann, Georg F. and Okun, J{\"u}rgen G. and Opladen, Thomas and Posset, Roland and Sahm, Katja and K{\"o}lker, Stefan},
  title={Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I},
  subtitle={second revision},
  year={2017},
  pages={75-101},
  language={eng},
  issn={1573-2665},
  volume={40},
  number={1},
  note={Published online: 16 November 2016 ; Gesehen am 05.06.2018},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-016-9999-9},
}
@article{UBHD-68676226,
  author={Br{\"a}utigam, Christa and Hyland, K. and Wevers, R. and Sharma, R. and Wagner, L. and Stock, G.-J. and Heitmann, F. and Hoffmann, Georg F.},
  title={Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency},
  year={2002},
  pages={113-117},
  language={eng},
  issn={1439-1899},
  volume={33},
  number={3},
  note={Gesehen am 28.12.2020},
  journal={Neuropediatrics},
  doi={10.1055/s-2002-33673},
}
@article{UBHD-68901345,
  author={Br{\"a}utigam, Christa and Weykamp, C. and Hoffmann, Georg F. and Wevers, R. A.},
  title={Neurotransmitter metabolites in CSF},
  subtitle={an external quality control scheme},
  year={2002},
  pages={287-298},
  language={eng},
  issn={1573-2665},
  volume={25},
  number={4},
  note={Gesehen am 30.03.2022},
  journal={Journal of inherited metabolic disease},
  doi={10.1023/A:1016550324235},
}
@article{UBHD-68068210,
  author={Breil, Thomas and Wenning, Daniel and Teufel-Sch{\"a}fer, Ulrike and Hoffmann, Georg F. and Ries, Markus},
  title={An assessment of publication status of pediatric liver transplantation studies},
  year={2016},
  pages={9 S.},
  language={eng},
  issn={1932-6203},
  volume={11(2016},
  note={Gesehen am 23.12.2016},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0168251},
  url={http://dx.doi.org/10.1371/journal.pone.0168251},
  library={UB},
}
@article{UBHD-68288689,
  author={Breil, Thomas and Hoffmann, Georg F. and Ries, Markus},
  title={Publication status of completed registered studies in paediatric appendicitis},
  subtitle={a cross-sectional analysis},
  year={2018},
  pages={7 S.},
  language={eng},
  issn={2044-6055},
  volume={8(2018},
  note={Gesehen am 25.07.2018},
  journal={BMJ open},
  doi={10.1136/bmjopen-2018-021684},
  url={http://dx.doi.org/10.1136/bmjopen-2018-021684},
  library={UB},
}
@article{UBHD-68583843,
  author={Brennenstuhl, Heiko and Kohlm{\"u}ller, Dirk and Gramer, Gwendolyn and Garbade, Sven and Syrbe, Steffen and Feyh, Patrik and K{\"o}lker, Stefan and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and Opladen, Thomas},
  title={High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots},
  year={2020},
  pages={602-610},
  language={eng},
  issn={1573-2665},
  volume={43},
  number={3},
  note={First published: 18 December 2019 ; Gesehen am 04.06.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12208},
  url={https://doi.org/10.1002/jimd.12208},
  library={UB},
}
@article{UBHD-69113609,
  author={Brennenstuhl, Heiko and Nashawi, Mohammed and Schr{\"o}ter, Julian and Baronio, Federico and Beedgen, Lars and Gleich, Florian and Jeltsch, Kathrin and Landenberg, Christina von and Martini, Silvia and Simon, Anna and Thiel, Christian and Tsiakas, Konstantinos and Opladen, Thomas and K{\"o}lker, Stefan and Hoffmann, Georg F. and Haas, Dorothea},
  title={Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria},
  year={2021},
  pages={1272-1287},
  language={eng},
  issn={1573-2665},
  volume={44},
  number={5},
  note={Gesehen am 17.08.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12412},
  url={https://doi.org/10.1002/jimd.12412},
  library={UB},
}
@article{UBHD-68685106,
  author={Brennenstuhl, Heiko and Garbade, Sven and Okun, J{\"u}rgen G. and Feyh, Patrik and Hoffmann, Georg F. and Langhans, Claus-Dieter and Opladen, Thomas},
  title={Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency},
  year={2020},
  pages={163-170},
  language={eng},
  issn={1096-7206},
  volume={131},
  number={1/2},
  note={Gesehen am 28.01.2021},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2020.07.001},
}
@article{UBHD-68440296,
  author={Breuer, Maximilian and Guglielmi, Luca and Zielonka, Matthias and K{\"o}lker, Stefan and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and Carl, Matthias and Sauer, Sven and Opladen, Thomas},
  title={QDPR homologues in Danio rerio regulate melanin synthesis, early gliogenesis, and glutamine homeostasis},
  year={2019},
  pages={19 S.},
  language={eng},
  issn={1932-6203},
  volume={14(2019},
  note={Gesehen am 14.10.2019},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0215162},
}
@article{UBHD-69049338,
  author={Brun, L. and Ngu, L. H. and Keng, W. T. and Ch'ng, G. S. and Choy, Y. S. and Hwu, W. L. and Lee, W. T. and Willemsen, M. a. a. P. and Verbeek, M. M. and Wassenberg, T. and Régal, L. and Orcesi, S. and Tonduti, D. and Accorsi, P. and Testard, H. and Abdenur, J. E. and Tay, S. and Allen, G. F. and Heales, S. and Kern, I. and Kato, M. and Burlina, A. and Manegold, Claudia and Hoffmann, Georg F. and Blau, N.},
  title={Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency},
  year={2010},
  pages={64-71},
  language={eng},
  issn={1526-632X},
  volume={75},
  number={1},
  note={Gesehen am 08.03.2023},
  journal={Neurology},
  doi={10.1212/WNL.0b013e3181e620ae},
}
@article{UBHD-68676223,
  author={Bubel, Stefanie and Peters, Verena and Klein, C. and Hackler, R. and Schaefer, J. R. and Hagenah, J. and Hoffmann, Georg F. and Vieregge, P.},
  title={CDG (congenital disorders of glycosylation) Zur Differenzialdiagnose heredit{\"a}rer Ataxien im Erwachsenenalter},
  year={2014},
  pages={754-760},
  language={ger},
  issn={1433-0407},
  volume={73},
  number={8},
  note={Published 17 February 2014 ; Gesehen am 28.12.2020},
  journal={Der Nervenarzt},
  doi={10.1007/s00115-002-1351-y},
}
@article{UBHD-68258785,
  author={Burgard, Peter and Garbade, Sven and Hoffmann, Georg F. and K{\"o}lker, Stefan},
  title={Issues with European guidelines for phenylketonuria},
  year={2017},
  pages={681-683},
  language={eng},
  issn={2213-8595},
  volume={5},
  number={9},
  note={Gesehen am 07.06.2018},
  journal={The lancet},
  doi={10.1016/S2213-8587(17)30201-2},
}
@article{UBHD-68580343,
  author={Burgard, Peter and K{\"o}lker, Stefan and Haege, Gisela and Lindner, Martin and Hoffmann, Georg F.},
  title={Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders—review and meta-analysis of observational studies published over more than 35 years},
  year={2016},
  pages={219-229},
  language={eng},
  issn={1573-2665},
  volume={39},
  number={2},
  note={First published: 03 December 2015 ; Gesehen am 25.05.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-015-9901-1},
}
@article{UBHD-68259165,
  author={Burgard, Peter and Rupp, Kathrin and Lindner, Martin and Haege, Gisela and Hoffmann, Georg F.},
  title={Newborn screening programmes in Europe},
  subtitle={arguments and efforts regarding harmonization : Part 2 - From screening laboratory results to treatment, follow-up and quality assurance},
  year={2012},
  pages={613-625},
  language={eng},
  issn={1573-2665},
  volume={35},
  number={4},
  note={First Online: 28 April 2012 ; Gesehen am 08.06.2018},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-012-9484-z},
}
@article{UBHD-69141322,
  author={Burgard, Peter and Hoffmann, Georg F. and Green, Anne},
  title={Unlocking the Treatment for PKU Brewin Books},
  year={2021},
  pages={282-283},
  language={eng},
  issn={1573-2665},
  volume={44},
  number={1},
  note={First published: 22 December 2020 ; Gesehen am 09.11.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12350},
}
@article{UBHD-68762577,
  author={Burlina, Alberto and Giuliani, Antonella and Polo, Giulia and Gueraldi, Daniela and Gragnaniello, Vincenza and Cazzorla, Chiara and Opladen, Thomas and Hoffmann, Georg F. and Blau, Nenad and Burlina, Alessandro P.},
  title={Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency},
  subtitle={the northeastern Italian experience},
  year={2021},
  pages={56-62},
  language={eng},
  issn={1096-7206},
  volume={133},
  number={1},
  note={Gesehen am 22.07.2021},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2021.03.009},
}
@article{UBHD-68380950,
  author={Byrne, Susan and K{\"o}lker, Stefan and Ebrahimi-Fakhari, Darius and Hoffmann, Georg F. and Pilz, Daniela and Schara, Ulrike and Zenker, Martin},
  title={EPG5-related Vici syndrome},
  subtitle={a paradigm of neurodevelopmental disorders with defective autophagy},
  year={2016},
  pages={765-781},
  language={eng},
  issn={1460-2156},
  volume={139},
  number={3},
  journal={Brain},
  doi={10.1093/brain/awv393},
}
@article{UBHD-68572630,
  author={Cannet, Claire and Pilotto, Andrea and Rocha, Júlio César and Sch{\"a}fer, Hartmut and Spraul, Manfred and Berg, Daniela and Nawroth, Peter Paul and Kasperk, Christian and Gramer, Gwendolyn and Haas, Dorothea and Piel, David and K{\"o}lker, Stefan and Hoffmann, Georg F. and Freisinger, Peter and Trefz, Friedrich K.},
  title={Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls},
  subtitle={results of NMR metabolomics investigation},
  year={2020},
  pages={1-7},
  language={eng},
  issn={1750-1172},
  volume={15},
  number={Artikel-ID 61},
  note={Gesehen am 04.05.2020},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-020-1329-5},
}
@article{UBHD-68286526,
  author={Choukair, Daniela and Kneppo, Carolin and Feneberg, Reinhard and Lindner, Martin and K{\"o}lker, Stefan and Hoffmann, Georg F. and T{\"o}nshoff, Burkhard},
  title={Analysis of the functional muscle-bone unit of the forearm in patients with phenylketonuria by peripheral quantitative computed tomography},
  year={2017},
  pages={219-226},
  language={eng},
  issn={1573-2665},
  volume={40},
  number={2},
  note={First online: 22 November 2016 ; Gesehen am 18.07.2018},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-016-0002-6},
}
@article{UBHD-68630860,
  author={Choukair, Daniela and Fredershausen, Birgit and Vick, Philipp and Hermanns, Pia and Weiß, Birgit and Paramasivam, Nagarajan and Schlesner, Matthias and Lornsen, Katharina and R{\"o}th, Ralph and Klutmann, Carina and Kreis, Jennifer and Hoffmann, Georg F. and Pohlenz, Joachim and Rappold, Gudrun and Bettendorf, Markus},
  title={Identification of transient receptor potential channel 4-associated protein as a novel candidate gene causing congenital primary hypothyroidism},
  year={2020},
  pages={16-29},
  language={eng},
  issn={1663-2826},
  volume={93},
  number={1},
  note={Gesehen am 25.08.2020},
  journal={Hormone research in paediatrics},
  doi={10.1159/000507114},
}
@article{UBHD-68862760,
  author={Choukair, Daniela and Hauck, Fabian and Bettendorf, Markus and Krude, Heiko and Klein, Christoph and B{\"a}umer, Tobias and Berner, Reinhard and Lee-Kirsch, Min Ae and Oberste-Berghaus, Corinna and Burgard, Peter and Hoffmann, Georg F.},
  title={An integrated clinical pathway for diagnosis, treatment and care of rare diseases},
  subtitle={model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee},
  year={2021},
  pages={1-13},
  language={eng},
  issn={1750-1172},
  volume={16},
  number={Artikel-ID 474},
  note={Gesehen am 27.04.2022},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-021-02092-w},
}
@article{UBHD-69095086,
  author={Choukair, Daniela and Lee-Kirsch, Min Ae and Berner, Reinhard and Oberste-Berghaus, Corinna and Hiort, Olaf and Hauck, Fabian and Klein, Christoph and Druschke, Diana and Hoffmann, Georg F. and Burgard, Peter},
  title={Der klinische Versorgungspfad zur multiprofessionellen Versorgung seltener Erkrankungen in der P{\"a}diatrie},
  subtitle={Ergebnisse aus dem Projekt TRANSLATE-NAMSE},
  year={2022},
  pages={52-60},
  language={ger},
  issn={1433-0474},
  volume={170},
  number={1},
  note={Online publiziert: 3. Dezember 2021 ; Gesehen am 10.07.2023},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-021-01378-4},
  url={https://doi.org/10.1007/s00112-021-01378-4},
  library={UB},
}
@article{UBHD-69296761,
  author={Choukair, Daniela and Mittnacht, Janna and Treiber, Dorothea and Hoffmann, Georg F. and Grasemann, Corinna and Huebner, Angela and Berner, Reinhard and Burgard, Peter and Szendr{\"o}di, Julia and Bettendorf, Markus},
  title={Resource use and costs of transitioning from paediatric to adult care for patients with chronic endocrine disease},
  year={2024},
  pages={121-129},
  language={eng},
  issn={1365-2265},
  volume={101},
  number={2 vom: Aug.},
  note={Gesehen am 31.01.2025},
  journal={Clinical endocrinology},
  doi={10.1111/cen.15105},
}
@article{UBHD-68216478,
  author={Colin, Estelle and Assmann, Birgit and Christ, Stine and Hoffmann, Georg F.},
  title={Biallelic variants in UBA5 reveal that disruption of the UFM1 cascade can result in early-onset encephalopathy},
  year={2016},
  pages={695-703},
  language={eng},
  issn={1537-6605},
  volume={99},
  number={3},
  note={Gesehen am 02.02.2018},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2016.06.030},
}
@article{UBHD-67666222,
  author={Cornel, Martina C. and Burgard, Peter and Hoffmann, Georg F. and Lindner, Martin},
  title={A framework to start the debate on neonatal screening policies in the EU},
  subtitle={an Expert Opinion Document},
  year={2014},
  pages={12-17},
  language={eng},
  issn={1476-5438},
  volume={22},
  number={1},
  note={Gesehen am 27.08.2014},
  journal={European journal of human genetics},
  doi={10.1038/ejhg.2013.90},
}
@article{UBHD-68412618,
  author={Cousin, Margot and Conboy, Erin and Wang, Jian-She and Lenz, Dominic and Schwab, Tanya L. and Williams, Monique and Abraham, Roshini S. and Barnett, Sarah and El-Youssef, Mounif and Graham, Rondell P. and Gutierrez Sanchez, Luz Helena and Hasadsri, Linda and Hoffmann, Georg F. and Hull, Nathan C. and Kopajtich, Robert and Kovacs-Nagy, Reka and Li, Jia-qi and Marx-Berger, Daniela and McLin, Valérie and McNiven, Mark A. and Mounajjed, Taofic and Prokisch, Holger and Rymen, Daisy and Schulze, Ryan J. and Staufner, Christian and Yang, Ye and Clark, Karl J. and Lanpher, Brendan C. and Klee, Eric W.},
  title={RINT1 bi-allelic variations cause infantile-onset recurrent acute liver failure and skeletal abnormalities},
  year={2019},
  pages={108-121},
  language={eng},
  issn={1537-6605},
  volume={105},
  number={1},
  note={Gesehen am 26.07.2019},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2019.05.011},
}
@article{UBHD-68742676,
  author={Cullup, Thomas and Kho, Ay L. and Dionisi-Vici, Carlo and Brandmeier, Birgit and Smith, Frances and Urry, Zoe and Simpson, Michael A. and Yau, Shu and Bertini, Enrico and McClelland, Verity and Al-Owain, Mohammed and K{\"o}lker, Stefan and K{\"o}rner, Christian and Hoffmann, Georg F. and Wijburg, Frits A. and Hoedt, Amber E. ten and Rogers, Curtis and Manchester, David and Miyata, Rie and Hayashi, Masaharu and Said, Elizabeth and Soler, Doriette and Kroisel, Peter M. and Windpassinger, Christian and Filloux, Francis M. and Al-Kaabi, Salwa and Hertecant, Jozef and Del Campo, Miguel and Buk, Stefan and Bodi, Istvan and Goebel, Hans-Hilmar and Sewry, Caroline A. and Abbs, Stephen and Mohammed, Shehla and Josifova, Dragana and Gautel, Mathias and Jungbluth, Heinz},
  title={Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy},
  year={2013},
  pages={83-87},
  language={eng},
  issn={1546-1718},
  volume={45},
  number={1},
  note={Epub: 2012 Dec 9 ; Gesehen am 31.05.2021},
  journal={Nature genetics},
  doi={10.1038/ng.2497},
}
@article{UBHD-68285008,
  author={Danhauser, Katharina and Sauer, Sven and Staufner, Christian and Traub, Thorsten and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and K{\"o}lker, Stefan},
  title={DHTKD1 mutations cause 2-Aminoadipic and 2-Oxoadipic aciduria},
  year={2012},
  pages={1082-1087},
  language={eng},
  issn={1537-6605},
  volume={91},
  number={6},
  note={Gesehen am 12.07.2018},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2012.10.006},
}
@article{UBHD-68626317,
  author={Dau, Cécile Ngoc Dung and Waldherr, Sina and Hoffmann, Georg F. and P{\"o}schl, Johannes},
  title={Dialyse im Neugeborenenalter},
  subtitle={eine lebenserhaltende Therapie mit guter Langzeitprognose},
  year={2014},
  pages={236-242},
  language={ger},
  issn={1433-0474},
  volume={162},
  number={3},
  note={Gesehen am 11.08.2020},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-013-3064-7},
}
@article{UBHD-68941126,
  author={Dikow, Nicola and Ditzen, Beate and K{\"o}lker, Stefan and Hoffmann, Georg F. and Schaaf, Christian P.},
  title={From newborn screening to genomic medicine},
  subtitle={challenges and suggestions on how to incorporate genomic newborn screening in public health programs},
  year={2022},
  pages={13-20},
  language={eng},
  issn={1863-5490},
  volume={34},
  number={1},
  note={Gesehen am 13.07.2022},
  journal={Medizinische Genetik},
  doi={10.1515/medgen-2022-2113},
}
@article{UBHD-68509294,
  author={Dimitrov, Bianca and Himmelreich, Nastassja and L{\"u}chtenborg, Christian and Okun, J{\"u}rgen G. and Breuer, Maximilian and Hutter, Anna-Marlen and Carl, Matthias and Guglielmi, Luca and Hellwig, Andrea and Thiemann, Kai Christian and Jost, Markus and Peters, Verena and Staufner, Christian and Hoffmann, Georg F. and Paramasivam, Nagarajan and Eils, Roland and Strahl, Sabine and Br{\"u}gger, Britta and Korenke, Christoph and Thiel, Christian},
  title={Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG},
  year={2018},
  pages={364-374},
  language={eng},
  issn={1096-7206},
  volume={123},
  number={3},
  note={Gesehen am 12.03.2020},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2018.01.008},
}
@book{UBHD-66187261,
  editor={Hoffmann, Georg F.},
  title={Diseases of neurotransmission},
  subtitle={from bench to bed; int.symposium 2004, Fulda},
  publisher={SPS},
  address={Heilbronn},
  year={2006},
  pages={212 S.},
  language={eng},
  isbn={3-936145-35-0 and 978-3-936145-35-9},
  keywords={Neurotransmitter / Krankheit},
}
@article{UBHD-68951136,
  author={Dobritzsch, Doreen and Meijer, Judith and Meinsma, Rutger and Maurer, Dirk and Monavari, Ardeshir A. and Gummesson, Anders and Reims, Annika and Cayuela, Jorge A. and Kuklina, Natalia and Benoist, Jean-François and Perrin, Laurence and Assmann, Birgit and Hoffmann, Georg F. and Bierau, J{\"o}rgen and Kaindl, Angela M. and van Kuilenburg, André B. P.},
  title={β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity},
  year={2022},
  pages={177-185},
  language={eng},
  issn={1096-7206},
  volume={136},
  number={3},
  note={Gesehen am 08.08.2022},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2022.01.102},
}
@article{UBHD-68697308,
  author={Driedger, Jan Henje and Saffari, Afshin and Hoffmann, Georg F. and K{\"o}lker, Stefan and Syrbe, Steffen},
  title={The phenotypic spectrum of PRRT2-associated paroxysmal neurologic disorders in childhood},
  year={2020},
  pages={1-14},
  language={eng},
  issn={2227-9059},
  volume={8},
  note={Gesehen am 09.02.2021},
  journal={Biomedicines},
  doi={10.3390/biomedicines8110456},
}
@article{UBHD-68748690,
  author={Driedger, Jan Henje and Schr{\"o}ter, Julian and J{\"u}ngling, Jerome and Biskup, Saskia and Klotz, Kerstin A. and Bast, Thomas and Dietel, Tobias and Korenke, Christoph and Christoph, Sophie and Brennenstuhl, Heiko and Rubboli, Guido and Møller, Rikke S. and Lesca, Gaetan and Chaix, Yves and K{\"o}lker, Stefan and Hoffmann, Georg F. and Lemke, Johannes and Syrbe, Steffen},
  title={Refining genotypes and phenotypes in KCNA2-related neurological disorders},
  year={2021},
  pages={1-16},
  language={eng},
  issn={1422-0067 and 1661-6596},
  volume={22},
  note={Gesehen am 15.06.2021},
  journal={International journal of molecular sciences},
  doi={10.3390/ijms22062824},
}
@article{UBHD-68065206,
  author={Driedger, Jan Henje and Lampert, Anette and Hoffmann, Georg F. and Ries, Markus},
  title={Thirty years of orphan drug legislation and the development of drugs to treat rare seizure conditions},
  subtitle={a cross sectional analysis},
  year={2016},
  pages={15 S.},
  language={eng},
  issn={1932-6203},
  volume={11(2016},
  note={Gesehen am 16.12.2016},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0161660},
  url={http://dx.doi.org/10.1371/journal.pone.0161660},
  library={UB},
}
@article{UBHD-68572620,
  author={Ebrahimi-Fakhari, Darius and Saffari, Afshin and Wahlster, Lara and Lu, Jenny and Byrne, Susan and Hoffmann, Georg F. and Jungbluth, Heinz and Sahin, Mustafa},
  title={Congenital disorders of autophagy},
  subtitle={an emerging novel class of inborn errors of neuro-metabolism},
  year={2016},
  pages={317-337},
  language={eng},
  issn={1460-2156},
  volume={139},
  number={2},
  note={Advance access publication December 29, 2015 ; Gesehen am 04.05.2020},
  journal={Brain},
  doi={10.1093/brain/awv371},
}
@article{UBHD-67675747,
  author={Ebrahimi-Fakhari, Darius and Wahlster, Lara and Hoffmann, Georg F. and K{\"o}lker, Stefan},
  title={Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases},
  year={2014},
  pages={217-226},
  language={eng},
  issn={1530-0447},
  volume={75},
  number={1/2},
  note={Gesehen am 18.09.2014},
  journal={Pediatric research},
  doi={10.1038/pr.2013.185},
}
@article{UBHD-68572613,
  author={Ebrahimi-Fakhari, Darius and Saffari, Afshin and Wahlster, Lara and Di Nardo, Alessia and Turner, Daria and Lewis, Tommy L. and Conrad, Christopher and Rothberg, Jonathan M. and Lipton, Jonathan O. and K{\"o}lker, Stefan and Hoffmann, Georg F. and Han, Min-Joon and Polleux, Franck and Sahin, Mustafa},
  title={Impaired mitochondrial dynamics and mitophagy in neuronal models of tuberous sclerosis complex},
  year={2016},
  pages={2162},
  language={eng},
  issn={2211-1247},
  volume={17},
  number={8},
  note={Gesehen am 04.05.2020},
  journal={Cell reports},
  doi={10.1016/j.celrep.2016.10.051},
}
@article{UBHD-68007609,
  author={Ebrahimi-Fakhari, Darius and Seitz, Angelika and K{\"o}lker, Stefan and Hoffmann, Georg F.},
  title={Recurrent stroke-like episodes in FBXL4-associated early-onset mitochondrial encephalomyopathy},
  year={2015},
  pages={549-550},
  language={eng},
  issn={1873-5150},
  volume={53},
  number={6},
  note={Gesehen am 14.07.2016},
  journal={Pediatric neurology},
  doi={10.1016/j.pediatrneurol.2015.08.018},
}
@article{UBHD-68333405,
  author={El-Hattab, Ayman W. and Opladen, Thomas and Hoffmann, Georg F.},
  title={Molecular and clinical spectra of FBXL4 deficiency},
  year={2017},
  pages={1649-1659},
  language={eng},
  issn={1098-1004},
  volume={38},
  number={12},
  note={Gesehen am 28.11.2018},
  journal={Human mutation},
  doi={10.1002/humu.23341},
}
@article{UBHD-68641526,
  author={Engelmann, Guido and Hoffmann, Georg F. and Grulich-Henn, J{\"u}rgen and Teufel-Sch{\"a}fer, Ulrike},
  title={Alanine aminotransferase elevation in obese infants and children},
  subtitle={a marker of early onset non alcoholic fatty liver disease},
  year={2014},
  language={eng},
  issn={1735-3408},
  volume={14(2014},
  note={Gesehen am 30.09.2020},
  journal={Hepatitis monthly},
  doi={10.5812/hepatmon.14112},
}
@article{UBHD-68140775,
  author={Engelmann, Guido and Wenning, Daniel and Fertig, Eduard and Hoffmann, Georg F. and Teufel-Sch{\"a}fer, Ulrike},
  title={Antibiotic prophylaxis in the management of percutaneous endoscopic gastrostomy in infants and children},
  year={2015},
  pages={295-298},
  language={eng},
  issn={1442-200X},
  volume={57},
  number={2},
  note={First published: 25 November 2014 ; Gesehen am 20.07.2017},
  journal={Pediatrics international},
  doi={10.1111/ped.12508},
}
@article{UBHD-68325841,
  author={Engelmann, Guido and Teufel-Sch{\"a}fer, Ulrike and Hoffmann, Georg F.},
  title={Feasibility study and control values of transient elastography in healthy children},
  year={2012},
  pages={1417},
  language={eng},
  issn={1432-1076},
  volume={171},
  number={9},
  note={Gesehen am 07.11.2018},
  journal={European journal of pediatrics},
  doi={10.1007/s00431-012-1778-5},
}
@article{UBHD-68617712,
  author={Engelmann, Guido and Erhard, D. and Petersen, M. and Parzer, Peter and Schlarb, A. A. and Resch, Franz and Brunner, Romuald and Hoffmann, Georg F. and Lenhartz, H. and Richterich, A.},
  title={Health-related quality of life in adolescents with inflammatory bowel disease depends on disease activity and psychiatric  comorbidity},
  year={2015},
  pages={300-307},
  language={eng},
  issn={1573-3327},
  volume={46},
  number={2},
  note={Published online: 18 May 2014 ; Gesehen am 16.07.2020},
  journal={Child psychiatry & human development},
  doi={10.1007/s10578-014-0471-5},
}
@article{UBHD-69052565,
  author={Engelmann, Guido and Schmidt, Jan and Weitz, J{\"u}rgen and Flechtenmacher, Christa and Schenk, Jens-Peter and Weigand, Markus A. and Lenhartz, Henning and Wenning, Daniel and Holland-Cunz, Stefan and Hoffmann, Georg F. and Martin, Eike and B{\"u}chler, Markus W. and Schmitt, Claus P. and Burdelski, Martin and Meyburg, Jochen},
  title={A new pediatric liver transplantation program in Southern Germany},
  subtitle={the Heidelberg experience},
  year={2010},
  pages={12-18},
  language={eng},
  issn={1399-3046},
  volume={14},
  number={1 vom: Feb.},
  note={Gesehen am 16.03.2023},
  journal={Pediatric transplantation},
  doi={10.1111/j.1399-3046.2009.01247.x},
}
@book{UBHD-66916674,
  editor={Hoffmann, Georg F.},
  organization={Kinder-Heilanstalt zu Heidelberg and Universit{\"a}tsklinikum Heidelberg},
  title={Entwicklungen und Perspektiven der Kinder- und Jugendmedizin},
  subtitle={150 Jahre P{\"a}diatrie in Heidelberg},
  edition={1. Aufl.},
  publisher={Kirchheim},
  address={Mainz},
  year={2010},
  pages={411 S.},
  language={ger},
  isbn={978-3-87409-489-4},
  note={Literaturangaben},
  keywords={P{\"a}diatrie / Jugendmedizin ; Zentrum f{\"u}r Kinder- und Jugendmedizin <Heidelberg> / Geschichte 1860-2010 ; Universit{\"a}tsklinikum Heidelberg / Kinderklinik / Geschichte 1900-2000 / Geschichte 1800-1900 / Geschichte 2000-2020 / Universit{\"a}tsklinik / Heidelberg},
  library={AV [Signatur: VII BE 25] ; MG [Signatur: Pe 160] ; ZP [Signatur: ZP/XB 4600 H711]},
}
@article{UBHD-68319623,
  author={Evers, Christina and Staufner, Christian and Granzow, Martin and Paramasivam, Nagarajan and Hinderhofer, Katrin and Kaufmann, Lilian Tamara and Fischer, Christine and Thiel, Christian and Opladen, Thomas and Kotzaeridou, Urania and Eils, Roland and K{\"o}lker, Stefan and Bartram, Claus R. and Hoffmann, Georg F. and Moog, Ute},
  title={Impact of clinical exomes in neurodevelopmental and neurometabolic disorders},
  year={2017},
  pages={297-307},
  language={eng},
  issn={1096-7206},
  volume={121},
  number={4},
  note={Gesehen am 22.10.2018},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2017.06.014},
}
@article{UBHD-68495671,
  author={Ferreira Lopez, Carlos R and Hoffmann, Georg F. and Blau, Nenad},
  title={Clinical and biochemical footprints of inherited metabolic diseases},
  subtitle={I. Movement disorders},
  year={2019},
  pages={28-30},
  language={eng},
  issn={1096-7206},
  volume={127},
  number={1},
  note={Gesehen am 03.03.2020 ; Available online 26 March 2019},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2019.03.007},
}
@article{UBHD-68682703,
  author={Forstner, Rosemarie and Hoffmann, Georg F. and Gassner, Ingemar and Heideman, Peter and De Klerk, Johannis B. C. and Lawrenz-Wolf, Burghard and Doringer, Ernst and Weiß-Wichert, Peter and Tr{\"o}ger, Jochen and Colombo, Jean P. and Pl{\"o}chl, Engelbert},
  title={Glutaric aciduria type I},
  subtitle={ultrasonographic demonstration of early signs},
  year={1999},
  pages={138-143},
  language={eng},
  issn={1432-1998},
  volume={29},
  number={2},
  note={Gesehen am 22.01.2021},
  journal={Pediatric radiology},
  doi={10.1007/s002470050558},
}
@article{UBHD-68250385,
  author={Friedman, Jennifer R. and Hoffmann, Georg F. and Lutz, Thomas and Blau, Nenad},
  title={Sepiapterin reductase deficiency},
  subtitle={a treatable mimic of cerebral palsy},
  year={2012},
  pages={520-530},
  language={eng},
  issn={1531-8249},
  volume={71},
  number={4},
  note={Gesehen am 08.05.2018},
  journal={Annals of neurology},
  doi={10.1002/ana.22685},
}
@article{UBHD-69102645,
  author={Gan-Schreier, Hongying and Kebbewar, Moustafa and Fang-Hoffmann, Junmin and Wilrich, Julia and Abdoh, Ghassan and Ben-Omran, Tawfeg and Shahbek, Noora and Bener, Abdulbari and Al Rifai, Hilal and Al Khal, Abdul Latif and Lindner, Martin and Zschocke, Johannes and Hoffmann, Georg F.},
  title={Newborn population screening for classic homocystinuria by determination of total homocysteine from guthrie cards},
  year={2010},
  pages={427-432},
  language={eng},
  issn={1097-6833},
  volume={156},
  number={3 vom: M{\"a}rz},
  note={Online ver{\"o}ffentlicht am 14. November 2009 ; Gesehen am 31.07.2023},
  journal={The journal of pediatrics},
  doi={10.1016/j.jpeds.2009.09.054},
}
@article{UBHD-68405382,
  author={Garbade, Sven and Himmelreich, Nastassja and Haas, Dorothea and Trefz, Friedrich K. and Hoffmann, Georg F. and Burgard, Peter and Blau, Nenad},
  title={Allelic phenotype values},
  subtitle={a model for genotype-based phenotype prediction in phenylketonuria},
  year={2019},
  pages={580-590},
  language={eng},
  issn={1530-0366},
  volume={21},
  number={3},
  note={Published: 12 July 2018 ; Gesehen am 05.07.2019},
  journal={Genetics in medicine},
  doi={10.1038/s41436-018-0081-x},
}
@incollection{UBHD-68910579,
  author={Garbade, Sven and Zielonka, Matthias and Mechler, Konstantin and K{\"o}lker, Stefan and Hoffmann, Georg F. and Staufner, Christian and Mengel, Eugen and Ries, Markus},
  title={FDA orphan drug designations for lysosomal storage disorders},
  subtitle={a cross sectional analysis},
  year={2020},
  pages={1-29},
  language={eng},
  note={Gesehen am 25.04.2022},
  booktitle={medRxiv},
  doi={10.1101/2020.01.05.20016568},
}
@article{UBHD-68613114,
  author={Garbade, Sven and Zielonka, Matthias and Mechler, Konstantin and K{\"o}lker, Stefan and Hoffmann, Georg F. and Staufner, Christian and Mengel, Eugen and Ries, Markus},
  title={FDA orphan drug designations for lysosomal storage disorders},
  subtitle={a cross-sectional analysis},
  year={2020},
  language={eng},
  issn={1932-6203},
  volume={15(2020},
  note={Gesehen am 02.07.2020},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0230898},
}
@article{UBHD-68632356,
  author={Garbade, Sven and Zielonka, Matthias and Komatzsuzaki, Shoko and K{\"o}lker, Stefan and Hoffmann, Georg F. and Hinderhofer, Katrin and Mountford, William K. and Mengel, Eugen and Sláma, Tomáš and Mechler, Konstantin and Ries, Markus},
  title={Quantitative retrospective natural history modeling for orphan drug development},
  year={2021},
  pages={99-109},
  language={eng},
  issn={1573-2665},
  volume={44},
  number={1},
  note={Gesehen am 28.08.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12304},
  url={https://doi.org/10.1002/jimd.12304},
  library={UB},
}
@article{UBHD-68976660,
  author={G{\"o}tz, Maren and Schr{\"o}ter, Julian and Dattner, Tal and Brennenstuhl, Heiko and Lenz, Dominic and Opladen, Thomas and H{\"o}rster, Friederike and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and K{\"o}lker, Stefan and Staufner, Christian},
  title={Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency},
  year={2022},
  pages={18-25},
  language={eng},
  issn={1096-7206},
  volume={137},
  number={1},
  note={Online verf{\"u}gbar 11 July 2022, Version des Artikels 19 July 2022 ; Gesehen am 20.10.2022},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2022.07.007},
}
@article{UBHD-68389964,
  author={Gramer, Gwendolyn and Nennstiel-Ratzel, Uta and Hoffmann, Georg F.},
  title={50 Jahre Neugeborenenscreening in Deutschland},
  subtitle={Bisherige Ergebnisse und zuk{\"u}nftige Herausforderungen},
  year={2018},
  pages={987-993},
  language={ger},
  issn={1433-0474},
  volume={166},
  number={11},
  note={First Online: 07 August 2017 ; Gesehen am 15.05.2019},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-017-0355-4},
}
@article{UBHD-67995052,
  author={Gramer, Gwendolyn and Hoffmann, Georg F. and K{\"o}lker, Stefan},
  title={Erratum zu: Metabolische Notfalltherapie},
  year={2014},
  pages={155-155},
  language={ger},
  issn={1433-0474},
  volume={162},
  number={2},
  note={Gesehen am 13.06.2016},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-013-3065-6},
}
@article{UBHD-68389673,
  author={Gramer, Gwendolyn and Hoffmann, Georg F.},
  title={Fr{\"u}herkennung eines Vitamin-B12-Mangels im Neugeborenenscreening},
  year={2018},
  pages={152-153},
  language={ger},
  issn={1433-0474},
  volume={166},
  number={2},
  note={Gesehen am 14.05.2019 ; Im Titel ist die Zahl "12" tiefgestellt},
  journal={Monatsschrift Kinderheilkunde},
}
@article{UBHD-68389969,
  author={Gramer, Gwendolyn and Fang-Hoffmann, Junmin and Klinke, Glynis and Monostori, Péter and Okun, J{\"u}rgen G. and Hoffmann, Georg F.},
  title={High incidence of maternal vitamin B12 deficiency detected by newborn screening},
  subtitle={first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel},
  year={2018},
  pages={470-481},
  language={eng},
  issn={1867-0687},
  volume={14},
  number={5},
  note={Gesehen am 15.05.2019 ; Im Titel ist die Zahl "12" tiefgestellt},
  journal={World journal of pediatrics},
  doi={10.1007/s12519-018-0159-1},
}
@article{UBHD-68805242,
  author={Gramer, Gwendolyn and Brockow, Inken and Labitzke, Christiane and Fang-Hoffmann, Junmin and Beivers, Andreas and Feyh, Patrik and Hoffmann, Georg F. and Nennstiel-Ratzel, Uta and Sommerburg, Olaf},
  title={Implementing a tracking system for confirmatory diagnostic results after positive newborn screening for cystic fibrosis},
  subtitle={implications for process quality and patient care},
  year={2021},
  pages={1145-1155},
  language={ger},
  issn={1432-1076},
  volume={180},
  number={4},
  note={Published: 26 October 2020 ; Gesehen am 25.11.2021},
  journal={European journal of pediatrics},
  doi={10.1007/s00431-020-03849-4},
  url={https://doi.org/10.1007/s00431-020-03849-4},
  library={UB},
}
@article{UBHD-68627131,
  author={Gramer, Gwendolyn and Haege, Gisela and Glahn, Esther M. and Hoffmann, Georg F. and Lindner, Martin and Burgard, Peter},
  title={Living with an inborn error of metabolism detected by newborn screening—Parents’ perspectives on child development and impact on family life},
  year={2014},
  pages={189-195},
  language={eng},
  issn={1573-2665},
  volume={37},
  number={2},
  note={First published: 16 August 2013 ; Gesehen am 13.08.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-013-9639-6},
}
@article{UBHD-68622220,
  author={Gramer, Gwendolyn and Haege, Gisela and Langhans, Claus-Dieter and Schuhmann, Vera and Burgard, Peter and Hoffmann, Georg F.},
  title={Long-chain polyunsaturated fatty acid status in children, adolescents and adults with phenylketonuria},
  year={2016},
  pages={52-57},
  language={eng},
  issn={1532-2823},
  volume={109},
  note={Gesehen am 30.07.2020},
  journal={Prostaglandins, leukotrienes and essential fatty acids},
  doi={10.1016/j.plefa.2016.04.005},
}
@article{UBHD-68767653,
  author={Gramer, Gwendolyn and Hoffmann, Georg F. and Hennermann, Julia B.},
  title={Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening},
  year={2021},
  pages={1-6},
  language={eng},
  issn={2214-4269},
  volume={27},
  number={Artikel-ID 100738},
  note={Gesehen am 06.08.2021},
  journal={Molecular genetics and metabolism reports},
  doi={10.1016/j.ymgmr.2021.100738},
}
@article{UBHD-68639022,
  author={Gramer, Gwendolyn and Haege, Gisela and Fang-Hoffmann, Junmin and Hoffmann, Georg F. and Bartram, Claus R. and Hinderhofer, Katrin and Burgard, Peter and Lindner, Martin},
  title={Medium-chain Acyl-CoA dehydrogenase deficiency},
  subtitle={evaluation of genotype-phenotype correlation in patients detected by newborn screening},
  year={2015},
  pages={101-112},
  language={eng},
  issn={2192-8312},
  volume={23},
  note={Gesehen am 21.09.2020},
  journal={JIMD reports},
  doi={10.1007/8904_2015_439},
}
@article{UBHD-67995050,
  author={Gramer, Gwendolyn and Hoffmann, Georg F. and K{\"o}lker, Stefan},
  title={Metabolische Notfalltherapie},
  subtitle={Praktische Umsetzung im klinischen Alltag},
  year={2013},
  pages={645-660},
  language={ger and eng},
  issn={1433-0474},
  volume={161},
  number={7},
  note={Gesehen am 13.06.2016},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112­013­2939­y},
}
@article{UBHD-68247150,
  author={Gramer, Gwendolyn and Sommerburg, Olaf and Hoffmann, Georg F.},
  title={Neugeborenenscreening 2020},
  subtitle={Perspektiven der Krankheitsfr{\"u}herkennung},
  year={2017},
  pages={216-225},
  language={eng},
  issn={1433-0474},
  volume={165},
  number={3},
  note={Gesehen am 26.04.2018},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-016-0233-5},
}
@article{UBHD-68247450,
  author={Gramer, Gwendolyn and Fang-Hoffmann, Junmin and Hoffmann, Georg F. and Okun, J{\"u}rgen G.},
  title={Newborn screening for remethylation disorders and vitamin B<Subscript>12</Subscript> deficiency-evaluation of new strategies in cohorts from Qatar and Germany},
  year={2017},
  pages={136-143},
  language={eng},
  issn={1867-0687},
  volume={13},
  number={2},
  note={Gesehen am 27.04.2018},
  journal={World journal of pediatrics},
  doi={10.1007/s12519-017-0003-z},
}
@article{UBHD-68574658,
  author={Gramer, Gwendolyn and Fang-Hoffmann, Junmin and Feyh, Patrik and Klinke, Glynis and Monostori, Péter and M{\"u}tze, Ulrike and Posset, Roland and Weiss, Karl Heinz and Hoffmann, Georg F. and Okun, J{\"u}rgen G.},
  title={Newborn screening for vitamin B12 deficiency in Germany},
  subtitle={strategies, results, and public health implications},
  year={2020},
  pages={12 S.},
  language={eng},
  issn={1097-6833},
  volume={216(2020) Artikel-Nummer 165-172.e4},
  number={12 Seiten},
  note={Im Titel ist die Zahl "12" tiefgestellt ; Available online 8 October 2019 ; Gesehen am 07.05.2020},
  journal={The journal of pediatrics},
  doi={10.1016/j.jpeds.2019.07.052},
}
@article{UBHD-68940739,
  author={Gramer, Gwendolyn and Hoffmann, Georg F.},
  title={Second-tier strategies in newborn screening},
  subtitle={potential and limitations},
  year={2022},
  pages={21-28},
  language={eng},
  issn={1863-5490},
  volume={34},
  number={1},
  note={Gesehen am 12.07.2022},
  journal={Medizinische Genetik},
  doi={10.1515/medgen-2022-2117},
}
@article{UBHD-68247088,
  author={Gramer, Gwendolyn and F{\"o}rl, Birgit and Springer, Christina and Weimer, Petra and Haege, Gisela and Mackensen, Friederike and M{\"u}ller, Edith and V{\"o}lcker, Hans Eberhard and Hoffmann, Georg F. and Lindner, Martin and Krastel, Hermann and Burgard, Peter},
  title={Visual functions in phenylketonuria},
  subtitle={evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses},
  year={2013},
  pages={1-7},
  language={eng},
  issn={1096-7206},
  volume={108},
  number={1},
  note={Gesehen am 26.04.2018},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2012.10.021},
}
@article{UBHD-68804938,
  author={Gramer, Gwendolyn and Hoffmann, Georg F.},
  title={Vitamin-B12-Mangel im Neugeborenen- und S{\"a}uglingsalter},
  subtitle={Ursachen, Fr{\"u}herkennung, Diagnostik und Vorstellung eines prim{\"a}r oralen Behandlungsschemas},
  year={2020},
  pages={1-7},
  language={ger},
  issn={1433-0474},
  volume={?},
  note={Gesehen am 24.11.2021},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-020-01008-5},
  url={https://doi.org/10.1007/s00112-020-01008-5},
  library={UB},
}
@article{UBHD-68662711,
  author={Gramer, Gwendolyn and Hoffmann, Georg F.},
  title={Vitamin B12 deficiency in newborns and their mothers},
  subtitle={novel approaches to early detection, treatment and prevention of a global health issue},
  year={2020},
  pages={801-809},
  language={eng},
  issn={2523-899X},
  volume={40},
  number={5},
  note={Im Text ist die "12" tiefgestellt ; Gesehen am 19.11.2020},
  journal={Current medical science},
  doi={10.1007/s11596-020-2260-7},
}
@article{UBHD-68248885,
  author={Grass, Lilian and Alrajab, Abdulsattar and Bui, Thi-Thanh-Tam and Hoffmann, Georg F. and W{\"u}hl, Elke and Schenk, Jens-Peter},
  title={Point shear wave elastography (pSWE) using Acoustic Radiation Force Impulse (ARFI) imaging},
  subtitle={a feasibility study and norm values for renal parenchymal stiffness in healthy children and adolescents},
  year={2017},
  pages={366-373},
  language={eng},
  issn={2066-8643},
  volume={19},
  number={4},
  note={Gesehen am 03.05.2018},
  journal={Medical ultrasonography},
  doi={10.11152/mu-1078},
}
@article{UBHD-68640788,
  author={Graziano, Claudio and Wischmeijer, Anita and Pippucci, Tommaso and Fusco, Carlo and Diquigiovanni, Chiara and Nõukas, Margit and Sauk, Martin and Kurg, Ants and Rivieri, Francesca and Blau, Nenad and Hoffmann, Georg F. and Chaubey, Alka and Schwartz, Charles E. and Romeo, Giovanni and Bonora, Elena and Garavelli, Livia and Seri, Marco},
  title={Syndromic intellectual disability},
  subtitle={a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant},
  year={2015},
  pages={144-148},
  language={eng},
  issn={1879-0038},
  volume={559},
  number={2},
  note={Gesehen am 28.09.2020},
  journal={Gene},
  doi={10.1016/j.gene.2015.01.026},
}
@article{UBHD-68144257,
  author={Grohmann-Held, Karina and Hoffmann, Georg F.},
  title={Hereditary orotic aciduria with epilepsy and without megaloblastic anemia},
  year={2015},
  pages={123-125},
  language={eng},
  issn={1439-1899},
  volume={46},
  number={02},
  note={Gesehen am 28.07.2017},
  journal={Neuropediatrics},
  doi={10.1055/s-0035-1547341},
}
@article{UBHD-68575839,
  author={Gr{\"u}nert, Sarah and Tucci, Sara and Schumann, Anke and Schwendt, Meike and Gramer, Gwendolyn and Hoffmann, Georg F. and Erbel, Michelle and Stiller, Brigitte and Spiekerk{\"o}tter, Ute},
  title={Primary carnitine deficiency},
  subtitle={diagnosis after heart transplantation : better late than never!},
  year={2020},
  pages={1-6},
  language={eng},
  issn={1750-1172},
  volume={15},
  number={Artikel-ID 87},
  note={Gesehen am 12.05.2020},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-020-01371-2},
}
@article{UBHD-68287007,
  author={Gr{\"u}ters-Kieslich, Annette and Burgard, Peter and Berner, Reinhard and Hoffmann, Georg F.},
  title={Zentren f{\"u}r seltene Erkrankungen},
  year={2017},
  pages={211-215},
  language={ger},
  issn={1433-0474},
  volume={165},
  number={3},
  note={Gesehen am 19.07.2018},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-017-0246-8},
}
@article{UBHD-68943503,
  author={Grulich-Henn, J{\"u}rgen and Lichtenstein, Silke and H{\"o}rster, Friederike and Hoffmann, Georg F. and Nawroth, Peter Paul and Hamann, Andreas},
  title={Moderate weight reduction in an outpatient obesity intervention program significantly reduces insulin resistance and risk factors for cardiovascular disease in severely obese adolescents},
  year={2011},
  pages={1-6},
  language={eng},
  issn={1687-8345},
  volume={2011},
  number={Artikel-ID 541021},
  note={Gesehen am 18.07.2022},
  journal={International journal of endocrinology},
  doi={10.1155/2011/541021},
}
@article{UBHD-67841112,
  author={Haack, Tobias and Kotzaeridou, Urania and Hoffmann, Georg F. and Staufner, Christian and Straub, Beate Katharina and K{\"o}lker, Stefan and Thiel, Christian and Dikow, Nicola and Harting, Inga and Beisse, Flemming and Burgard, Peter},
  title={Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy},
  year={2015},
  pages={163-169},
  language={eng},
  issn={1537-6605},
  volume={97},
  number={1},
  note={Gesehen am 17.02.2021},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2015.05.009},
}
@article{UBHD-68700972,
  author={Haack, Tobias and Jackson, Christopher B. and Murayama, Kei and Kremer, Laura S. and Schaller, André and Kotzaeridou, Urania and Vries, Maaike C. de and Schottmann, Gudrun and Santra, Saikat and B{\"u}chner, Boriana and Wieland, Thomas and Graf, Elisabeth and Freisinger, Peter and Eggimann, Sandra and Ohtake, Akira and Okazaki, Yasushi and Kohda, Masakazu and Kishita, Yoshihito and Tokuzawa, Yoshimi and Sauer, Sascha and Memari, Yasin and Kolb‐Kokocinski, Anja and Durbin, Richard and Hasselmann, Oswald and Cremer, Kirsten and Albrecht, Beate and Wieczorek, Dagmar and Engels, Hartmut and Hahn, Dagmar and Zink, Alexander M. and Alston, Charlotte L. and Taylor, Robert W. and Rodenburg, Richard J. and Trollmann, Regina and Sperl, Wolfgang and Strom, Tim M. and Hoffmann, Georg F. and Mayr, Johannes A. and Meitinger, Thomas and Bolognini, Ramona and Schuelke, Markus and Nuoffer, Jean-Marc and K{\"o}lker, Stefan and Prokisch, Holger and Klopstock, Thomas},
  title={Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement},
  year={2015},
  pages={492-509},
  language={eng},
  issn={2328-9503},
  volume={2},
  number={5},
  note={Gesehen am 18.02.2021},
  journal={Annals of Clinical and Translational Neurology},
  doi={10.1002/acn3.189},
}
@article{UBHD-68298921,
  author={Haack, Tobias and Herberg, Ulrike and Hoffmann, Georg F. and Prokisch, Holger},
  title={Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing},
  year={2012},
  pages={277-283},
  language={eng},
  issn={1468-6244},
  volume={49},
  number={4},
  note={Gesehen am 24.08.2018},
  journal={Journal of medical genetics},
  doi={10.1136/jmedgenet-2012-100846},
}
@article{UBHD-67932290,
  author={Haack, Tobias and Kotzaeridou, Urania and Hoffmann, Georg F.},
  title={Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening},
  year={2014},
  pages={342-352},
  language={eng},
  issn={1096-7206},
  volume={111},
  number={3},
  note={Program and abstracts for the 2014 meeting of the Society for Inherited Metabolic Disorders ; Gesehen am 29.01.2016 ; Available online 25 December 2013},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2013.12.010},
}
@article{UBHD-67928865,
  author={Haas, Dorothea and Gan-Schreier, Hongying and Langhans, Claus-Dieter and Anninos, Alexandros and Haege, Gisela and Burgard, Peter and Schulze, Andreas and Hoffmann, Georg F. and Okun, J{\"u}rgen G.},
  title={Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSF},
  year={2014},
  pages={188-194},
  language={eng},
  issn={1879-0038},
  volume={538},
  number={1},
  note={Gesehen am 22.01.2016},
  journal={Gene},
  doi={10.1016/j.gene.2014.01.019},
}
@article{UBHD-68807089,
  author={Haas, Dorothea and Hauke, Jana and Schwarz, Kathrin V. and Consalvi, Lucia and Trefz, Friedrich K. and Blau, Nenad and Hoffmann, Georg F. and Burgard, Peter and Garbade, Sven and Okun, J{\"u}rgen G.},
  title={Differences of phenylalanine concentrations in dried blood spots and in plasma},
  subtitle={erythrocytes as a neglected component for this observation},
  year={2021},
  pages={1-10},
  language={eng},
  issn={2218-1989},
  volume={11},
  note={Gesehen am 01.12.2021},
  journal={Metabolites},
  doi={10.3390/metabo11100680},
}
@article{UBHD-68300400,
  author={Haas, Dorothea and Gan-Schreier, Hongying and Langhans, Claus-Dieter and Engelmann, Guido and Hoffmann, Georg F. and Okun, J{\"u}rgen G.},
  title={Differential diagnosis in patients with suspected bile acid synthesis defects},
  year={2012},
  pages={1067-1076},
  language={eng},
  issn={2219-2840},
  volume={18},
  number={10},
  note={Gesehen am 30.08.2018},
  journal={World journal of gastroenterology},
  doi={10.3748/wjg.v18.i10.1067},
}
@article{UBHD-68687313,
  author={Haas, Dorothea and Haege, Gisela and Hoffmann, Georg F. and Burgard, Peter},
  title={Prenatal presentation and diagnostic evaluation of suspected Smith-Lemli-Opitz (RSH) syndrome},
  year={2013},
  pages={1008-1011},
  language={eng},
  issn={1552-4833},
  volume={161},
  number={5},
  note={Gesehen am 10.02.2021},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.a.35837},
}
@article{UBHD-68996526,
  author={Haddad, Anneke and Janda, Ales̆ and Renk, Hanna and Stich, Maximilian and Frieh, Pauline and Kaier, Klaus and Lohrmann, Florens and Nieters, Alexandra and Willems, Anna and Huzly, Daniela and Dulovic, Alex and Schneiderhan-Marra, Nicole and Jacobsen, Eva-Maria and Fabricius, Dorit and Zernickel, Maria and Stamminger, Thomas and Bode, Sebastian F. N. and Himpel, Theda and Remppis, Jonathan and Engel, Corinna and Peter, Andreas and Ganzenmueller, Tina and Hoffmann, Georg F. and Haase, Bettina and Kr{\"a}usslich, Hans-Georg and M{\"u}ller, Barbara and Franz, Axel R. and Debatin, Klaus-Michael and T{\"o}nshoff, Burkhard and Henneke, Philipp and Elling, Roland},
  title={Long COVID symptoms in exposed and infected children, adolescents and their parents one year after SARS-CoV-2 infection},
  subtitle={A prospective observational cohort study},
  year={2022},
  pages={1-13},
  language={eng},
  issn={2352-3964},
  volume={84},
  number={Artikel-ID 104245},
  note={Gesehen am 13.12.2022},
  journal={EBioMedicine},
  doi={10.1016/j.ebiom.2022.104245},
}
@incollection{UBHD-68462765,
  author={H{\"a}berle, Johannes and K{\"o}lker, Stefan and Hoffmann, Georg F.},
  title={Krankheiten und St{\"o}rungen des Eiweißstoffwechsel},
  year={2014},
  pages={466-492},
  language={ger},
  isbn={978-3-642-41866-2},
  booktitle={P{\"a}diatrie},
  editor={Hoffmann, Georg F. and Lentze, Michael J. and Spranger, J{\"u}rgen and Zepp, Fred},
}
@article{UBHD-68946318,
  author={H{\"a}berle, Johannes and Shahbeck, Noora and Ibrahim, Khalid and Hoffmann, Georg F. and Ben-Omran, Tawfeg},
  title={Natural course of glutamine synthetase deficiency in a 3 year old patient},
  year={2011},
  pages={89-91},
  language={eng},
  issn={1096-7206},
  volume={103},
  number={1 vom: Mai},
  note={Gesehen am 25.07.2022},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2011.02.001},
}
@article{UBHD-69253571,
  author={Hammann, Nicole Irene and Lenz, Dominic and Baric, Ivo and Crushell, Ellen and Vici, Carlo Dionisi and Distelmaier, Felix and Feillet, Francois and Freisinger, Peter and Hempel, Maja and Khoreva, Anna L. and Laass, Martin W. and Lacassie, Yves and Lainka, Elke and Larson-Nath, Catherine and Li, Zhongdie and Lipiński, Patryk and Lurz, Eberhard and Mégarbané, André and Nobre, Susana and Olivieri, Giorgia and Peters, Bianca and Prontera, Paolo and Schlieben, Lea D. and Seroogy, Christine M. and Sobacchi, Cristina and Suzuki, Shigeru and Tran, Christel and Vockley, Jerry and Wang, Jian-She and Wagner, Matias and Prokisch, Holger and Garbade, Sven and K{\"o}lker, Stefan and Hoffmann, Georg F. and Staufner, Christian},
  title={Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease},
  year={2024},
  pages={1-10},
  language={eng},
  issn={1096-7206},
  volume={141},
  note={Online verf{\"u}gbar: 11. Januar 2024, Artikelversion: 19. Januar 2024 ; Gesehen am 16.09.2024},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2023.108118},
}
@article{UBHD-69294322,
  author={Hammann, Nicole Irene and Lenz, Dominic and Bianzano, Alyssa and Husain, Ralf A. and Forman, Eva and Bernstein, Jonathan A. and Dattner, Tal and Engelen, Marc and Hanson-Kahn, Andrea K. and Isidor, Bertrand and Kotzaeridou, Urania and Tietze, Anna and Trollmann, Regina and Weiß, Claudia and Wolffenbuttel, Bruce H. R. and K{\"o}lker, Stefan and Hoffmann, Georg F. and Crushell, Ellen and Staufner, Christian and Mohr, Alexander and Harting, Inga},
  title={MRI in LARS1 deficiency},
  subtitle={spectrum, patterns, and correlation with acute neurological deterioration},
  year={2024},
  pages={1028-1046},
  language={eng},
  issn={1573-2665},
  volume={47},
  number={5},
  note={Ver{\"o}ffentlicht: 01 July 2024 ; Gesehen am 27.01.2025},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12764},
}
@article{UBHD-68368915,
  author={Haute, Lindsey van and Kotzaeridou, Urania and Hoffmann, Georg F.},
  title={Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3},
  year={2016},
  pages={10 S.},
  language={eng},
  issn={2041-1723},
  volume={7(2016) Article number: 12039},
  number={10 Seiten},
  note={Gesehen am 12.03.2019},
  journal={Nature Communications},
  doi={10.1038/ncomms12039},
}
@article{UBHD-68803088,
  author={Heidenreich, Elena and Pfeffer, Tilman and Kracke, Tamara and Mechtel, Nils and Nawroth, Peter Paul and Hoffmann, Georg F. and Schmitt, Claus P. and Hell, R{\"u}diger and Poschet, Gernot and Peters, Verena},
  title={A novel UPLC-MS/MS method identifies organ-specific dipeptide profiles},
  year={2021},
  pages={1-15},
  language={eng},
  issn={1422-0067 and 1661-6596},
  volume={22},
  note={Gesehen am 18.11.2021},
  journal={International journal of molecular sciences},
  doi={10.3390/ijms22189979},
}
@article{UBHD-69069386,
  author={Heringer-Seifert, Jana and Boy, Nikolas and Ensenauer, Regina and Assmann, Birgit and Zschocke, Johannes and Harting, Inga and L{\"u}cke, Thomas and Maier, Esther M. and M{\"u}hlhausen, Chris and Haege, Gisela and Hoffmann, Georg F. and Burgard, Peter and K{\"o}lker, Stefan},
  title={Use of guidelines improves the neurological outcome in glutaric aciduria type I},
  year={2010},
  pages={743-752},
  language={eng},
  issn={1531-8249},
  volume={68},
  number={5 vom: Nov.},
  note={First published: 29 October 2010 ; Gesehen am 26.04.2023},
  journal={Annals of neurology},
  doi={10.1002/ana.22095},
}
@article{UBHD-68253275,
  author={Hermanussen, Michael and Hoffmann, Georg F.},
  title={How much chicken is food?},
  subtitle={questioning the definition of food by analyzing amino acid composition of modern convenience products : conflict of interest statement : there is no conflict of interest to disclose},
  year={2012},
  pages={57-69},
  language={eng},
  issn={2363-7099},
  volume={69},
  number={1},
  note={Gesehen am 18.05.2018},
  journal={Journal of biological and clinical anthropology},
  doi={10.1127/0003-5548/2011/0153},
}
@article{UBHD-68650716,
  author={Hillert, Alicia and Th{\"o}ny, Beat and Trefz, Friedrich K. and Hoffmann, Georg F. and Garbade, Sven and Blau, Nenad},
  title={The genetic landscape and epidemiology of phenylketonuria},
  year={2020},
  pages={234-250},
  language={eng},
  issn={1537-6605},
  volume={107},
  number={2},
  note={Gesehen am 20.10.2020 ; PDF ist kostenpflichtig},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2020.06.006},
}
@article{UBHD-68496538,
  author={Himmelreich, Nastassja and Montioli, Riccardo and Bertoldi, Mariarita and Carducci, Carla and Leuzzi, Vincenzo and Gemperle, Corinne and Berner, Todd and Hyland, Keith and Th{\"o}ny, Beat and Hoffmann, Georg F. and Voltattorni, Carla B. and Blau, Nenad},
  title={Aromatic amino acid decarboxylase deficiency},
  subtitle={Molecular and metabolic basis and therapeutic outlook},
  year={2019},
  pages={12-22},
  language={eng},
  issn={1096-7206},
  volume={127},
  number={1},
  note={Available online 27 March 2019 ; Gesehen am 04.03.2020},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2019.03.009},
}
@article{UBHD-68957716,
  author={Himmelreich, Nastassja and Dimitrov, Bianca and Zielonka, Matthias and H{\"u}llen, Andreas and Hoffmann, Georg F. and Juenger, Hendrik and M{\"u}ller, Herbert and Lorenz, Imke and Busse, Birgit and Marschall, Christoph and Schl{\"u}ter, Gregor and Thiel, Christian},
  title={Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature},
  year={2022},
  pages={274-281},
  language={eng},
  issn={1096-7206},
  volume={136},
  number={4},
  note={Gesehen am 28.08.2022},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2022.06.005},
}
@article{UBHD-68465873,
  author={Himmelreich, Nastassja and Dimitrov, Bianca and Geiger, Virginia and Zielonka, Matthias and Hutter, Anna-Marlen and Beedgen, Lars and H{\"u}llen, Andreas and Breuer, Maximilian and Peters, Verena and Thiemann, Kai Christian and Hoffmann, Georg F. and Sinning, Irmgard and Ziegler, Andreas and Thiel, Christian},
  title={Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus},
  year={2019},
  pages={938-951},
  language={eng},
  issn={1098-1004},
  volume={40},
  number={7},
  note={Gesehen am 10.12.2019},
  journal={Human mutation},
  doi={10.1002/humu.23764},
}
@article{UBHD-68476504,
  author={Himmelreich, Nastassja and Shen, Nan and Okun, J{\"u}rgen G. and Thiel, Christian and Hoffmann, Georg F. and Blau, Nenad},
  title={Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria},
  year={2018},
  pages={86-95},
  language={eng},
  issn={1096-7206},
  volume={125},
  number={1},
  note={Available online 23 June 2018 ; Gesehen am 15.01.2020},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2018.06.011},
}
@article{UBHD-68263898,
  author={Hinderhofer, Katrin and Hoffmann, Georg F. and Lampert, Anette and Ries, Markus},
  title={Critical appraisal of genotype assessment in molybdenum cofactor deficiency},
  year={2017},
  pages={801-811},
  language={eng},
  issn={1573-2665},
  volume={40},
  number={6},
  note={Published online: 12 September 2017 ; Gesehen am 21.06.2018},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-017-0077-8},
}
@article{UBHD-68674742,
  author={H{\"o}mme, Meike and Schmitt, Claus P. and Himmele, Rainer and Hoffmann, Georg F. and Mehls, Otto and Schaefer, Franz},
  title={Vitamin D and dexamethasone inversely regulate parathyroid hormone-induced regulator of G protein signaling-2 expression in osteoblast-like cells},
  year={2003},
  pages={2496-2504},
  language={eng},
  issn={1945-7170},
  volume={144},
  number={6},
  note={Gesehen am 18.12.2020},
  journal={Endocrinology},
  doi={10.1210/en.2002-0160},
}
@article{UBHD-68627129,
  author={Hoffmann, Georg F. and Lindner, Martin and Loeber, J. Gerard},
  title={50 years of newborn screening},
  year={2014},
  pages={163-164},
  language={eng},
  issn={1573-2665},
  volume={37},
  number={2},
  note={Gesehen am 13.08.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-014-9688-5},
}
@incollection{UBHD-69117802,
  author={Hoffmann, Georg F. and Kuseyri H{\"u}bschmann, Oya},
  title={Abnormalities of tetrahydrobiopterin metabolism},
  year={2023},
  pages={?},
  language={eng},
  issn={2831-9125},
  note={Gesehen am 31.08.2023},
  booktitle={MedLink neurology},
}
@incollection{UBHD-68759506,
  author={Hoffmann, Georg F. and K{\"o}lker, Stefan},
  title={Defects in amino acid catabolism and the urea cycle},
  year={2013},
  pages={1755-1773},
  language={eng},
  isbn={978-0-444-59565-2 and 0-444-59565-1 and 0-444-59577-5 and 978-0-444-59577-5},
  note={Gesehen am 13.07.2021},
  booktitle={Pediatric neurology},
  editor={Dulac, Olivier and Lassonde, Maryse and Sarnat, Harvey B.},
}
@incollection{UBHD-68462764,
  author={Hoffmann, Georg F. and K{\"o}lker, Stefan},
  title={Differenzialdiagnose und Notfallbehandlung von Intermedi{\"a}rstoffwechselkrankheiten},
  year={2014},
  pages={459-465},
  language={ger},
  isbn={978-3-642-41866-2},
  booktitle={P{\"a}diatrie},
  editor={Hoffmann, Georg F. and Lentze, Michael J. and Spranger, J{\"u}rgen and Zepp, Fred},
}
@article{UBHD-68635509,
  author={Hoffmann, Georg F. and Smit, G. Peter A. and Schoser, Benedikt},
  title={Glycogen storage diseases of all types},
  year={2015},
  pages={389-390},
  language={eng},
  issn={1573-2665},
  volume={38},
  number={3},
  note={Gesehen am 08.09.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-015-9848-2},
}
@book{UBHD-65473156,
  author={Hoffmann, Georg F.},
  title={Inherited metabolic diseases},
  publisher={Lippincott, Williams & Wilkins},
  address={Philadelphia, Pa. [u.a.]},
  year={2002},
  pages={IX, 435 S.},
  language={eng},
  isbn={0-7817-2900-9 and 978-0-7817-2900-0},
  series={Core handbooks in pediatrics},
  note={Includes bibliographical references and index},
  keywords={Kind / Stoffwechselkrankheit / Stoffwechselst{\"o}rung / Angeborene Krankheit},
}
@incollection{UBHD-68556759,
  author={Hoffmann, Georg F.},
  title={Metabolische Erkrankungen},
  year={2019},
  pages={41-73},
  language={ger},
  isbn={3-662-57294-X and 978-3-662-57294-8},
  booktitle={P{\"a}diatrie},
  editor={Speer, Christian and Gahr, Manfred and D{\"o}tsch, J{\"o}rg},
}
@book{UBHD-9421839,
  author={Hoffmann, Georg F.},
  title={Die Mevalonazidurie},
  subtitle={eine Stoffwechselerkrankung der Cholesterin- und Isoprenoidsynthese},
  year={1993},
  pages={183 S.},
  language={ger},
  school={Heidelberg, Univ., Habil.-Schr., 1993},
  library={UB [Signatur: 94 U 619]},
}
@article{UBHD-69223757,
  author={Hoffmann, Georg F. and Gibson, K. M. and Trefz, Friedrich K. and Nyhan, W. L. and Bremer, Hans J. and Rating, Dietz},
  title={Neurological manifestations of organic acid disorders},
  year={1994},
  pages={S94-S100},
  language={eng},
  issn={1432-1076},
  volume={153},
  number={suppl. 1},
  note={Gesehen am 17.06.2024},
  journal={European journal of pediatrics},
  doi={10.1007/BF02138786},
}
@article{UBHD-68584802,
  author={Hoffmann, Georg F.},
  title={Neurometabolic hereditary diseases of adults},
  year={2019},
  pages={389-389},
  language={eng},
  issn={1573-2665},
  volume={42},
  number={2},
  note={Gesehen am 05.06.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12074},
}
@article{UBHD-69048200,
  author={Hoffmann, Georg F. and Cornejo, Verónica and Pollitt, Rodney J.},
  title={Newborn screening - progress and challenges},
  year={2010},
  pages={199-200},
  language={eng},
  issn={1573-2665},
  volume={33},
  number={S2 vom: Okt.},
  note={First published: 11 September 2010 ; Gesehen am 06.08.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-010-9191-6},
}
@article{UBHD-68806013,
  author={Hoffmann, Georg F. and Mundlos, C. and D{\"o}tsch, J. and Hebestreit, H.},
  title={Seltene Erkrankungen in der P{\"a}diatrie},
  subtitle={von der Diagnostik und Behandlung einzelner Erkrankungen zum Aufbau von Netzwerkstrukturen},
  year={2020},
  pages={1-13},
  language={ger},
  issn={1433-0474},
  volume={168},
  note={Gesehen am 29.11.2021},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-020-00978-w},
  url={https://doi.org/10.1007/s00112-020-00978-w},
  library={UB},
}
@article{UBHD-68873384,
  author={Hoffmann, Georg F. and Hebestreit, Helge},
  title={Seltene Erkrankungen},
  year={2022},
  pages={10-12},
  language={ger},
  issn={1433-0474},
  volume={170},
  number={1},
  note={Gesehen am 02.02.2022},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-021-01371-x},
}
@article{UBHD-68253950,
  author={Hoffmann, Georg F. and Zepp, Fred},
  title={Seltene Erkrankungen und molekulargenetische Diagnostik},
  year={2017},
  pages={200-201},
  language={ger},
  issn={1433-0474},
  volume={165},
  number={3},
  note={Gesehen am 23.05.2018},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-017-0242-z},
}
@incollection{UBHD-68556498,
  author={Hoffmann, Georg F.},
  title={Stoffwechselerkrankungen},
  year={2013},
  pages={71-109},
  language={ger},
  isbn={978-3-642-34269-1},
  booktitle={P{\"a}diatrie},
  editor={Speer, Christian and Gahr, Manfred},
  doi={10.1007/978-3-642-34269-1},
}
@article{UBHD-68675862,
  author={Hoffmann, Georg F. and Assmann, Birgit and Br{\"a}utigam, Christa and Dionisi‐Vici, Carlo and H{\"a}ussler, Martin and Klerk, Johannes B. C. De and Naumann, Markus and Steenbergen‐Spanjers, Gerry C. H. and Strassburg, Hans-Michael and Wevers, Ron A.},
  title={Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia},
  year={2003},
  pages={S56-S65},
  language={eng},
  issn={1531-8249},
  volume={54},
  number={S6},
  note={Gesehen am 22.12.2020},
  journal={Annals of neurology},
  doi={10.1002/ana.10632},
}
@book{UBHD-67228751,
  author={Hoffmann, Georg F.},
  title={Zentrum f{\"u}r Seltene Erkrankungen},
  subtitle={am Universit{\"a}tsklinikum Heidelberg gibt es ein spezielles Zentrum f{\"u}r Menschen, die von einer seltenen Krankheit betroffen sind},
  publisher={Medizinische Universit{\"a}ts-Klinik und Poliklinik},
  address={Heidelberg},
  year={2012},
  pages={Online-Ressource},
  language={ger},
  number={ARRAY(0x55dcabcfe100)},
  series={Campus-Report bei Uni-Radio Baden},
  note={H{\"o}rfunkbeitrag (Dauer: 2 Minuten)},
  keywords={Erbkrankheit / Diagnose / Patient / Patientin / Therapie / {\"A}rztliche Behandlung},
  url={http://archiv.ub.uni-heidelberg.de/volltextserver/volltexte/2012/13251},
  library={UB},
}
@article{UBHD-68313778,
  author={Huwendiek, S{\"o}ren and Hoffmann, Georg F. and T{\"o}nshoff, Burkhard},
  title={Electronic assessment of clinical reasoning in clerkships},
  subtitle={a mixed-methods comparison of long-menu key-feature problems with context-rich single best answer questions},
  year={2017},
  pages={476-485},
  language={eng},
  issn={1466-187X},
  volume={39},
  number={5},
  note={Gesehen am 10.10.2018},
  journal={Medical teacher},
  doi={10.1080/0142159X.2017.1297525},
}
@article{UBHD-68083629,
  author={Huwendiek, S{\"o}ren and Skusa, Romy and Hoffmann, Georg F. and T{\"o}nshoff, Burkhard},
  title={Exploring the validity and reliability of a questionnaire for evaluating virtual patient design with a special emphasis on fostering clinical reasoning},
  year={2015},
  pages={775-782},
  language={eng},
  issn={1466-187X},
  volume={37},
  number={8},
  note={Gesehen am 13.02.2017},
  journal={Medical teacher},
  doi={10.3109/0142159X.2014.970622},
}
@article{UBHD-68936604,
  author={Huwendiek, S{\"o}ren and Haider, H.R. and Fischer, M.R. and Hoffmann, Georg F. and T{\"o}nshoff, Burkhard},
  title={Kernausbildungsinhalte P{\"a}diatrie f{\"u}r Medizinstudierende},
  subtitle={Ergebnisse einer bundesweiten Umfrage unter Lehrbeauftragten der Universit{\"a}tskinderkliniken und Obleuten des Berufsverbands der Kinder- und Jugend{\"a}rzte e.V.},
  year={2011},
  pages={655-661},
  language={ger},
  issn={1433-0474},
  volume={159},
  number={7},
  note={Gesehen am 01.07.2022},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-011-2401-y},
}
@article{UBHD-68852727,
  author={Huwendiek, S{\"o}ren and Duncker, Cecilia and Reichert, Friedrich and De Leng, Bas A. and Dolmans, Diana and van der Vleuten, Cees P. M. and Haag, Martin and Hoffmann, Georg F. and T{\"o}nshoff, Burkhard},
  title={Learner preferences regarding integrating, sequencing and aligning virtual patients with other activities in the undergraduate medical curriculum},
  subtitle={A focus group study},
  year={2013},
  pages={920-929},
  language={eng},
  issn={1466-187X},
  volume={35},
  number={11},
  note={Gesehen am 22.12.2021},
  journal={Medical teacher},
  doi={10.3109/0142159X.2013.826790},
}
@book{UBHD-67244571,
  author={Huwendiek, S{\"o}ren and Oberle, Stephan and Frick, Barbara and Simon, Anke and Meyburg, Jochen and Hoffmann, Georg F.},
  organization={Campus-TV (Heidelberg)},
  title={Virtuelle Patienten f{\"u}r Kinder{\"a}rzte},
  subtitle={an der Universit{\"a}t Heidelberg geht man neue Wege in der Medizinerausbildung},
  publisher={Zentrum f{\"u}r Kinder- und Jugendmedizin},
  address={Heidelberg},
  year={2012},
  pages={Online-Ressource},
  language={ger},
  note={Videoaufzeichnung (Dauer: 5 Minuten)},
  keywords={Zentrum f{\"u}r Kinder- und Jugendmedizin <Heidelberg> / Simulation <Medizin> / Notfall / Teamwork / Patient / Wiederbelebung / Stress},
  url={http://archiv.ub.uni-heidelberg.de/volltextserver/volltexte/2012/13394},
  library={UB},
}
@book{UBHD-66834035,
  editor={Hoffmann, Georg F.},
  title={Inherited metabolic diseases},
  subtitle={a clinical approach},
  publisher={Springer},
  address={Berlin ; Heidelberg},
  year={2010},
  pages={XIV, 386 S.},
  language={ger},
  isbn={978-3-540-74722-2 and 3-540-74722-2},
  keywords={Stoffwechselkrankheit / Erbkrankheit},
  library={UB [Signatur: UBN/XG 4100 H711]},
}
@book{UBHD-68129676,
  editor={Hoffmann, Georg F. and Nyhan, William L. and Zschocke, Johannes},
  title={Inherited Metabolic Diseases},
  subtitle={A Clinical Approach},
  publisher={Springer-Verlag Berlin Heidelberg},
  address={Berlin, Heidelberg},
  year={2010},
  pages={Online-Ressource (Approx. 0 p. 58 illus., 25 illus. in color, digital)},
  language={eng},
  isbn={978-3-540-74723-9 and 978-3-540-74722-2},
  series={SpringerLink : B{\"u}cher},
  note={Description based upon print version of record},
  doi={10.1007/978-3-540-74723-9},
  keywords={Stoffwechselkrankheit / Erbkrankheit ; Stoffwechselkrankheit / Erbkrankheit},
}
@book{UBHD-68129682,
  title={Inherited metabolic diseases},
  subtitle={a clinical approach},
  edition={second edition},
  publisher={Springer},
  address={Berlin ; Heidelberg},
  year={2017},
  pages={1 Online-Ressource (XVII, 605 Seiten)},
  language={eng},
  isbn={978-3-662-49410-3},
  series={SpringerLink : B{\"u}cher},
  doi={10.1007/978-3-662-49410-3},
  keywords={Stoffwechselst{\"o}rung / Erbkrankheit},
}
@book{UBHD-68129683,
  editor={Hoffmann, Georg F. and Zschocke, Johannes and Nyhan, William L.},
  organization={Springer-Verlag GmbH},
  title={Inherited metabolic diseases},
  subtitle={a clinical approach},
  edition={Second edition},
  publisher={Springer},
  address={Berlin ; Heidelberg},
  year={2017},
  pages={xvii, 605 Seiten},
  language={eng},
  isbn={978-3-662-49408-0 and 3-662-49408-6},
  keywords={Stoffwechselkrankheit / Erbkrankheit},
}
@article{UBHD-68324662,
  author={Inta, Ioana and Hoffmann, Georg F. and Bettendorf, Markus},
  title={Pediatric use of tetracyclines},
  subtitle={focus on neurodevelopmental effects},
  year={2017},
  pages={725-726},
  language={eng},
  issn={1530-0447},
  volume={82},
  note={Gesehen am 05.11.2018},
  journal={Pediatric research},
  doi={10.1038/pr.2017.167},
}
@article{UBHD-68491179,
  author={Iuso, Arcangela and Kotzaeridou, Urania and Hoffmann, Georg F.},
  title={A homozygous splice site mutation in SLC25A42, encoding the mitochondrial transporter of coenzyme A, causes metabolic crises and epileptic encephalopathy},
  year={2019},
  pages={1-7},
  language={eng},
  issn={2192-8312},
  volume={44},
  note={First online: 20 June 2018 ; Gesehen am 19.02.2020},
  journal={JIMD reports},
  doi={10.1007/8904_2018_115},
}
@article{UBHD-68491185,
  author={Iuso, Arcangela and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and Haas, Dorothea},
  title={Mutations in PPCS, encoding phosphopantothenoylcysteine synthetase, cause autosomal-recessive dilated cardiomyopathy},
  year={2018},
  pages={1018-1030},
  language={eng},
  issn={1537-6605},
  volume={102},
  number={6},
  note={Gesehen am 19.02.2020},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2018.03.022},
}
@article{UBHD-69140453,
  author={Janda, Joachim and Hegert, Sebastian and Bzdok, Jessica and Tesorero, Rafael and Holtkamp, Ute and Burggraf, Siegfried and Schuhmann, Elfriede and H{\"o}rster, Friederike and Hoffmann, Georg F. and Janzen, Nils and Okun, J{\"u}rgen G. and Becker, Marc and Durner, J{\"u}rgen},
  title={High throughput newborn screening for Sickle cell disease - application of two-tiered testing with a qPCR-based primary screen},
  year={2023},
  pages={1-7},
  language={eng},
  issn={0300-8630},
  note={Artikel online ver{\"o}ffentlicht: 25. September 2023 ; Gesehen am 07.11.2023},
  journal={Klinische P{\"a}diatrie},
  doi={10.1055/a-2153-7789},
}
@article{UBHD-68875291,
  author={Joachim, Alexander and Dewald, Felix and Suárez, Isabelle and Zemlin, Michael and Lang, Isabelle and Stutz, Regine and Marthaler, Anna and Bosse, Hans-Martin and L{\"u}bke, Nadine and M{\"u}nch, Juliane and Bernard, Marie-Annett and Jeltsch, Kathrin and T{\"o}nshoff, Burkhard and Weidner, Niklas Maximilian and Kr{\"a}usslich, Hans-Georg and Birzele, Lena and H{\"u}bner, Johannes and Schmied, Patricia and Meyer-B{\"u}hn, Melanie and Horemheb-Rubio, Gibran and Cornely, Oliver A. and Haverkamp, Heinz and Wiesm{\"u}ller, Gerhard and F{\"a}tkenheuer, Gerd and Hero, Barbara and Kaiser, Rolf and D{\"o}tsch, J{\"o}rg and Rybniker, Jan and Cosgun, Z{\"u}lf{\"u} C. and H{\"u}nseler, Christoph and Sch{\"o}nenkorb, Jana and Wurm, Juliane and Klein, Florian and Heger, Eva and Knops, Elena and Sierra-Aragón, Saleta and Kretschmer, Alina Chloé and Sprute, Rosanne and Kossow, Annelene and Hellmich, Martin and Shah-Hosseini, Kija and Weiss, Michael and Goedicke-Fritz, Sybelle and Kaiser, Elisabeth and Meyer, Sascha and Seiwert, Nastasja and Smola, Sigrun and Pfuhl, Thorsten and Lohse, Stefan and Schupp, Anna-Kathrin and Timm, J{\"o}rg and Gr{\"o}ne, Nehle and Lesmann, Hellen and Bredahl, Renate and Schneble, Lukas and Turinsky, Martin and Patry, Christian and Hoffmann, Georg F. and M{\"u}ller, Barbara and B{\"o}rner, Kathleen and Schnitzler, Paul and Heuser, Anke-Mareil and Welker, Andreas and von Both, Ulrich and Kern, Anna},
  title={Pooled RT-qPCR testing for SARS-CoV-2 surveillance in schools},
  subtitle={a cluster randomised trial},
  year={2021},
  pages={1-10},
  language={eng},
  issn={2589-5370},
  volume={39},
  number={Artikel-ID 101082},
  note={The B-FAST study group: Z{\"u}lf{\"u} C. Cosgun, Lukas Schneble, Martin Turinsky, Christian Patry, Georg F. Hoffmann, Barbara M{\"u}ller, Kathleen B{\"o}rner, Paul Schnitzler, Anke-Mareil Heuser, Andreas Welker [und 27 weitere] ; Gesehen am 08.02.2022},
  journal={EClinicalMedicine},
  doi={10.1016/j.eclinm.2021.101082},
}
@article{UBHD-67869676,
  author={K{\"a}stner, B{\"a}rbel and Lutz, Nadine and B{\"u}rger, Friederike and Luntz, Steffen P. and Hinderhofer, Katrin and Bendszus, Martin and Hoffmann, Georg F. and Ries, Markus},
  title={Clinical research in vulnerable populations},
  subtitle={variability and focus of institutional review boards’ responses},
  year={2015},
  pages={8 S.},
  language={eng},
  issn={1932-6203},
  volume={10(2015},
  note={Gesehen am 08.09.2015},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0135997},
  url={http://dx.doi.org/10.1371/journal.pone.0135997},
  library={UB},
}
@article{UBHD-69108017,
  author={Keller, Mareike and Brennenstuhl, Heiko and Kuseyri H{\"u}bschmann, Oya and Manti, Filippo and Julia Palacios, Natalia Alexandra and Friedman, Jennifer R. and Yıldız, Yılmaz and Koht, Jeanette Aimee and Wong, Suet-Na and Zafeiriou, Dimitrios I. and López-Laso, Eduardo and Pons, Roser and Kulhánek, Jan and Jeltsch, Kathrin and Serrano-Lomelin, Jesus and Garbade, Sven and Opladen, Thomas and Goez, Helly and Burlina, Alberto and Cortès-Saladelafont, Elisenda and Fernández Ramos, Joaquín Alejandro and García-Cazorla, Angeles and Hoffmann, Georg F. and Kiat Hong, Stacey Tay and Honzík, Tomáš and Kavecan, Ivana and Kurian, Manju A. and Leuzzi, Vincenzo and L{\"u}cke, Thomas and Manzoni, Francesca and Mastrangelo, Mario and Mercimek-Andrews, Saadet and Mir, Pablo and Oppebøen, Mari and Pearson, Toni S. and Sivri, H. Serap and Steel, Dora and Stevanović, Galina and Fung, Cheuk-Wing},
  title={Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders},
  subtitle={Data from the iNTD registry},
  year={2021},
  pages={1489-1502},
  language={eng},
  issn={1573-2665},
  volume={44},
  number={6 vom: Nov.},
  note={Online ver{\"o}ffentlicht: 9. Juli 2021 ; Gesehen am 09.08.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12416},
  url={https://doi.org/10.1002/jimd.12416},
  library={UB},
}
@article{UBHD-68647966,
  author={Klinke, Glynis and Richter, Sylvia and Monostori, Péter and Schmidt‐Mader, Brigitte and García‐Cazorla, Angels and Artuch, Rafael and Christ, Stine and Opladen, Thomas and Hoffmann, Georg F. and Blau, Nenad and Okun, J{\"u}rgen G.},
  title={Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform},
  year={2020},
  pages={712-725},
  language={eng},
  issn={1573-2665},
  volume={43},
  number={4},
  note={Gesehen am 13.10.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12213},
  url={https://doi.org/10.1002/jimd.12213},
  library={UB},
}
@article{UBHD-68675955,
  author={Klose, Daniela and K{\"o}lker, Stefan and Heinrich, Beate and Prietsch, Viola and Mayatepek, Ertan and Kries, R{\"u}diger von and Hoffmann, Georg F.},
  title={Incidence and short-term outcome of children with symptomatic presentation of organic acid and fatty acid oxidation disorders in Germany},
  year={2002},
  pages={1204-1211},
  language={eng},
  issn={1098-4275},
  volume={110},
  number={6},
  note={Gesehen am 22.12.2020},
  journal={Pediatrics},
  doi={10.1542/peds.110.6.1204},
}
@article{UBHD-68675566,
  author={Knerr, Ina M. and Zschocke, Johannes and Trautmann, U. and Dorland, L. and Koning, T. J. de and M{\"u}ller, P. and Christensen, E. and Trefz, F. K. and W{\"u}ndisch, G. F. and Rascher, W. and Hoffmann, Georg F.},
  title={Glutaric aciduria type III},
  subtitle={A distinctive non-disease?},
  year={2002},
  pages={483-490},
  language={eng},
  issn={1573-2665},
  volume={25},
  number={6},
  note={Gesehen am 21.12.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1023/A:1021207419125},
}
@article{UBHD-68676248,
  author={K{\"o}lker, Stefan and Koehr, Georg and Ahlemeyer, Barbara and Okun, J{\"u}rgen G. and Pawlak, Verena and H{\"o}rster, Friederike and Mayatepek, Ertan and Krieglstein, Josef and Hoffmann, Georg F.},
  title={Ca 2+ and Na + dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons},
  year={2002},
  pages={199-206},
  language={eng},
  issn={1530-0447},
  volume={52},
  number={2},
  note={Im Titel sind "2+" und "+" hochgestellt ; Gesehen am 28.12.2020},
  journal={Pediatric research},
  doi={10.1203/00006450-200208000-00011},
}
@article{UBHD-68901337,
  author={K{\"o}lker, Stefan and Okun, J{\"u}rgen G. and Ahlemeyer, Barbara and Wyse, Angela T.S. and H{\"o}rster, Friederike and Wajner, Moacir and Kohlm{\"u}ller, Dirk and Mayatepek, Ertan and Krieglstein, Josef and Hoffmann, Georg F.},
  title={Chronic treatment with glutaric acid induces partial tolerance to excitotoxicity in neuronal cultures from chick embryo telencephalons},
  year={2002},
  pages={424-431},
  language={eng},
  issn={1097-4547},
  volume={68},
  number={4},
  note={Gesehen am 30.03.2022},
  journal={Journal of neuroscience research},
  doi={10.1002/jnr.10189},
}
@article{UBHD-68326376,
  author={K{\"o}lker, Stefan and Boy, Nikolas and Heringer-Seifert, Jana and M{\"u}ller, Edith and Hoffmann, Georg F. and Haege, Gisela and Burgard, Peter},
  title={Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I},
  subtitle={a decade of experience},
  year={2012},
  pages={72-80},
  language={eng},
  issn={1096-7206},
  volume={107},
  number={1},
  note={Gesehen am 08.11.2018},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2012.03.021},
}
@article{UBHD-68938295,
  author={K{\"o}lker, Stefan and Sauer, Sven and Okun, J{\"u}rgen G. and Burgard, Peter and Hoffmann, Georg F.},
  title={Glutarazidurie Typ I},
  subtitle={Von der interdisziplin{\"a}ren Forschung zur strukturierten Patientenversorgung},
  year={2011},
  pages={842-847},
  language={ger},
  issn={1433-0474},
  volume={159},
  number={9},
  note={Gesehen am 06.07.2022},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-011-2443-1},
}
@article{UBHD-68676238,
  author={K{\"o}lker, Stefan and Pawlak, Verena and Ahlemeyer, Barbara and Okun, J{\"u}rgen G. and H{\"o}rster, Friederike and Mayatepek, Ertan and Krieglstein, Josef and Hoffmann, Georg F. and K{\"o}hr, Georg},
  title={NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d-2-hydroxyglutaric aciduria},
  year={2002},
  pages={21-28},
  language={eng},
  issn={1460-9568},
  volume={16},
  number={1},
  note={Gesehen am 28.12.2020},
  journal={European journal of neuroscience},
  doi={10.1046/j.1460-9568.2002.02055.x},
}
@article{UBHD-68381176,
  author={Komatsuzaki, Shoko and Zielonka, Matthias and Mountford, William K. and K{\"o}lker, Stefan and Hoffmann, Georg F. and Garbade, Sven and Ries, Markus},
  title={Clinical characteristics of 248 patients with Krabbe disease},
  subtitle={quantitative natural history modeling based on published cases},
  year={2019},
  pages={2208-2215},
  language={eng},
  issn={1530-0366},
  volume={21},
  number={10},
  note={Gesehen am 17.04.2019},
  journal={Genetics in medicine},
  doi={10.1038/s41436-019-0480-7},
}
@article{UBHD-68235495,
  author={Kopajtich, Robert and Breuer, Maximilian and Harting, Inga and Kotzaeridou, Urania and K{\"o}lker, Stefan and Sauer, Sven and Carl, Matthias and Hoffmann, Georg F. and Staufner, Christian},
  title={Biallelic IARS mutations cause growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and infantile hepatopathy},
  year={2016},
  pages={414-422},
  language={eng},
  issn={1537-6605},
  volume={99},
  number={2},
  note={Gesehen am 22.03.2018},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2016.05.027},
}
@article{UBHD-68575508,
  author={Kovacevic, Alexander and Garbade, Sven and Hoffmann, Georg F. and Gorenflo, Matthias and K{\"o}lker, Stefan and Staufner, Christian},
  title={Cardiac phenotype in propionic acidemia},
  subtitle={results of an observational monocentric study},
  year={2020},
  pages={41-48},
  language={eng},
  issn={1096-7206},
  volume={130},
  number={1},
  note={Gesehen am 11.05.2020},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2020.02.004},
}
@article{UBHD-69008221,
  author={Kovacevic, Alexander and Garbade, Sven and H{\"o}rster, Friederike and Hoffmann, Georg F. and Gorenflo, Matthias and Mereles, Derliz and K{\"o}lker, Stefan and Staufner, Christian},
  title={Detection of early cardiac disease manifestation in propionic acidemia - results of a monocentric cross-sectional study},
  year={2022},
  pages={349-358},
  language={eng},
  issn={1096-7206},
  volume={137},
  number={4},
  note={Online verf{\"u}gbar 2 November 2022, Artikelversion 14 November 2022 ; Gesehen am 19.01.2023},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2022.10.007},
}
@article{UBHD-69046272,
  author={Kovacevic, Alexander and Garbade, Sven and H{\"o}rster, Friederike and Hoffmann, Georg F. and Gorenflo, Matthias and Mereles, Derliz and K{\"o}lker, Stefan and Staufner, Christian},
  title={Evaluation of right ventricular function in patients with propionic acidemia},
  subtitle={a cross-sectional study},
  year={2023},
  pages={1-13},
  language={eng},
  issn={2227-9067},
  volume={10},
  note={Gesehen am 14.11.2023},
  journal={Children},
  doi={10.3390/children10010113},
}
@article{UBHD-68678619,
  author={Kr{\"a}mer, Thomas and B{\"o}hler, Thomas and Janecke, Andreas and Hoffmann, Georg F. and Linderkamp, Otwin},
  title={Anwendung der indirekten Kalorimetrie zur Ern{\"a}hrungssteuerung bei kleinen Fr{\"u}hgeborenen},
  year={1999},
  pages={389-393},
  language={ger},
  issn={1439-3824},
  volume={211},
  number={5},
  note={13. M{\"a}rz 2008 (online) ; Gesehen am 11.01.2021},
  journal={Klinische P{\"a}diatrie},
  doi={10.1055/s-2008-1043817},
}
@article{UBHD-68458077,
  author={Kremer, Laura S. and Hoffmann, Georg F.},
  title={Bi-allelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy},
  year={2016},
  pages={358-362},
  language={eng},
  issn={1537-6605},
  volume={98},
  number={2},
  note={Gesehen am 20.11.2019},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2015.12.009},
}
@article{UBHD-69313977,
  author={K{\"u}per, Katharina and Poschet, Gernot and Rossmann, Julia and Garbade, Sven and Spiegelhalter, Alexander and Wen, Dan and Hoffmann, Georg F. and Schmitt, Claus P. and Opladen, Thomas and Peters, Verena},
  title={Dipeptides in CSF and plasma},
  subtitle={diagnostic and therapeutic potential in neurological diseases},
  year={2025},
  pages={1-9},
  language={eng},
  issn={1438-2199},
  volume={57},
  number={Artikel-ID 2},
  note={Ver{\"o}ffentlicht: 13. Dezember 2024 ; Gesehen am 03.03.2025},
  journal={Amino acids},
  doi={10.1007/s00726-024-03434-1},
}
@article{UBHD-69116952,
  author={Kuilenburg, André van and Dobritzsch, Doreen and Meijer, Judith and Meinsma, Rutger and Benoist, Jean-François and Assmann, Birgit and Schubert-Bast, Susanne and Hoffmann, Georg F. and Duran, Marinus and de Vries, Maaike C. and Kurlemann, Gerd and Eyskens, François J. M. and Greed, Lawrence and Sass, J{\"o}rn Oliver and Schwab, K. Otfried and Sewell, Adrian C. and Walter, John and Hahn, Andreas and Zoetekouw, Lida and Ribes, Antonia and Lind, Suzanne and Hennekam, Raoul C. M.},
  title={Dihydropyrimidinase deficiency},
  subtitle={phenotype, genotype and structural consequences in 17 patients},
  year={2010},
  pages={639-648},
  language={eng},
  issn={1879-260X},
  volume={1802},
  number={7/8 vom: Juli/Aug.},
  note={Gesehen am 29.08.2023},
  journal={Biochimica et biophysica acta},
  doi={10.1016/j.bbadis.2010.03.013},
}
@article{UBHD-68583371,
  author={Kunz, Joachim and Awad, Saida Beatrix and Happich, Margit and Muckenthaler, Lena and Lindner, Martin and Gramer, Gwendolyn and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and Bruckner, Thomas and Muckenthaler, Martina and Kulozik, Andreas},
  title={Significant prevalence of sickle cell disease in Southwest Germany},
  subtitle={results from a birth cohort study indicate the necessity for newborn screening},
  year={2016},
  pages={397-402},
  language={eng},
  issn={1432-0584},
  volume={95},
  number={3},
  note={Published online: 12 December 2015 ; Gesehen am 03.06.2020},
  journal={Annals of hematology},
  doi={10.1007/s00277-015-2573-y},
}
@article{UBHD-68940023,
  author={Kurian, Manju A. and Li, Yan and Zhen, Juan and Meyer, Esther and Hai, Nebula and Christen, Hans-J{\"u}rgen and Hoffmann, Georg F. and Jardine, Philip and von Moers, Arpad and Mordekar, Santosh R and O'Callaghan, Finbar and Wassmer, Evangeline and Wraige, Elizabeth and Dietrich, Christa and Lewis, Timothy and Hyland, Keith and Heales, Simon JR and Sanger, Terence and Gissen, Paul and Assmann, Birgit E and Reith, Maarten EA and Maher, Eamonn R},
  title={Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome},
  subtitle={an observational cohort and experimental study},
  year={2011},
  pages={54-62},
  language={eng},
  issn={1474-4465},
  volume={10},
  number={1},
  note={Available online 25 November 2010 ; Gesehen am 11.07.2022},
  journal={The lancet},
  doi={10.1016/S1474-4422(10)70269-6},
}
@article{UBHD-69107870,
  author={Kuseyri H{\"u}bschmann, Oya and Mohr, Alexander and Friedman, Jennifer and Manti, Filippo and Horvath, Gabriella and Cortès-Saladelafont, Elisenda and Mercimek-Andrews, Saadet and Yildiz, Yilmaz and Pons, Roser and Kulhánek, Jan and Oppebøen, Mari and Koht, Jeanette Aimee and Podzamczer-Valls, Inés and Domingo-Jimenez, Rosario and Ibáñez, Salvador and Alcoverro-Fortuny, Oscar and Gómez-Alemany, Teresa and de Castro, Pedro and Alfonsi, Chiara and Zafeiriou, Dimitrios I. and López-Laso, Eduardo and Guder, Philipp and Santer, René and Honzík, Tomáš and Hoffmann, Georg F. and Garbade, Sven and Sivri, H. Serap and Leuzzi, Vincenzo and Jeltsch, Kathrin and García-Cazorla, Angeles and Opladen, Thomas and Harting, Inga},
  title={Brain MR patterns in inherited disorders of monoamine neurotransmitters},
  subtitle={an analysis of 70 patients},
  year={2021},
  pages={1070-1082},
  language={eng},
  issn={1573-2665},
  volume={44},
  number={4 vom: Juli},
  note={Online ver{\"o}ffentlicht: 14. Januar 2021 ; Gesehen am 09.08.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12360},
  url={https://doi.org/10.1002/jimd.12360},
  library={UB},
}
@article{UBHD-68909440,
  author={Kuseyri H{\"u}bschmann, Oya and Horvath, Gabriella and Cortès-Saladelafont, Elisenda and Yıldız, Yılmaz and Pons, Roser and Friedman, Jennifer and Mercimek-Andrews, Saadet and Wong, Suet-Na and Pearson, Toni S. and Zafeiriou, Dimitrios I. and Kulhánek, Jan and Kurian, Manju A. and López-Laso, Eduardo and Oppebøen, Mari and Kılavuz, Sebile and Wassenberg, Tessa and Goez, Helly and Scholl-B{\"u}rgi, Sabine and Porta, Francesco and Honzík, Tomáš and Santer, René and Burlina, Alberto and Sivri, H. Serap and Leuzzi, Vincenzo and Hoffmann, Georg F. and Jeltsch, Kathrin and H{\"u}bschmann, Daniel and Garbade, Sven F. and Assmann, Birgit and Fung, Cheuk-Wing and Guder, Philipp and Hong, Stacey Tay Kiat and Karall, Daniela and Kato, Mitsuhiro and Kavecan, Ivana and Koht, Jeanette Aimee and Kuster, Alice and L{\"u}cke, Thomas and Manti, Filippo and Mir, Pablo and M{\"u}hlhausen, Chris and {\"O}nenli Mungan, Halise Neslihan and Palacios, Natalia Alexandra Julia and Ramos, Joaquín Alejandro Fernández and Steel, Dora and Stevanović, Galina and Sykut-Cegielska, Jolanta and Verbeek, Marcel M. and García-Cazorla, Angeles and Opladen, Thomas},
  title={Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines},
  year={2021},
  pages={1-13},
  language={eng},
  issn={2041-1723},
  volume={12},
  number={Artikel-ID 5529},
  note={Gesehen am 21.04.2022},
  journal={Nature Communications},
  doi={10.1038/s41467-021-25515-5},
  url={https://doi.org/10.1038/s41467-021-25515-5},
  library={UB},
}
@article{UBHD-69107853,
  author={Kuseyri H{\"u}bschmann, Oya and Juliá-Palacios, Natalia Alexandra and Olivella, Mireia and Guder, Philipp and Zafeiriou, Dimitrios I. and Horvath, Gabriela Ana and Kulhánek, Jan and Pearson, Toni S. and Kuster, Alice and Cortès-Saladelafont, Elisenda and Ibáñez, Salvador and García-Jiménez, Maria Concepción and Honzík, Tomáš and Santer, René and Jeltsch, Kathrin and Garbade, Sven and Hoffmann, Georg F. and Opladen, Thomas and García-Cazorla, Ángeles},
  title={Integrative approach to predict severity in nonketotic hyperglycinemia},
  year={2022},
  pages={292-303},
  language={eng},
  issn={1531-8249},
  volume={92},
  number={2 vom: Aug.},
  note={Gesehen am 09.08.2023},
  journal={Annals of neurology},
  doi={10.1002/ana.26423},
}
@article{UBHD-68388001,
  author={Lampert, Anette and Hoffmann, Georg F. and Ries, Markus},
  title={Ten years after the international committee of medical journal editors’ clinical trial registration initiative, one quarter of phase 3 pediatric epilepsy clinical trials still remain unpublished},
  subtitle={a cross sectional analysis},
  year={2016},
  pages={12 S.},
  language={eng},
  issn={1932-6203},
  volume={11(2016},
  note={Gesehen am 08.05.2019},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0144973},
}
@article{UBHD-67957823,
  author={Lehmann, Ronny and Thiessen, Christiane and Frick, Barbara and Nikendei, Christoph and Hoffmann, Georg F. and T{\"o}nshoff, Burkhard and Huwendiek, S{\"o}ren},
  title={Improving pediatric basic life support performance through blended learning with web-based virtual patients},
  subtitle={randomized controlled trial},
  year={2015},
  pages={1-18},
  language={eng},
  issn={1438-8871},
  volume={17},
  note={Gesehen am 17.03.2016},
  journal={Journal of medical internet research},
  doi={10.2196/jmir.4141},
}
@article{UBHD-69332745,
  author={Lehmann, Ronny and Klinke Petrowsky, Michaela and Seitz, Anke and Meyburg, Jochen and Eppich, Walter and Hoffmann, Georg F. and T{\"o}nshoff, Burkhard and Huwendiek, S{\"o}ren},
  title={A novel blended and interprofessional approach to pediatric emergency training},
  subtitle={self-assessment, perception, and perceived long-term effects},
  year={2024},
  pages={1-11},
  language={eng},
  issn={1472-6920},
  volume={24},
  number={1},
  note={Gesehen am 22.04.2025},
  journal={BMC medical education},
  doi={10.1186/s12909-024-06381-3},
}
@article{UBHD-68453864,
  author={Lehmann, Ronny and Seitz, Anke and Meyburg, Jochen and Hoppe, Bettina and Hoffmann, Georg F. and T{\"o}nshoff, Burkhard and Huwendiek, S{\"o}ren},
  title={Pediatric in-hospital emergencies},
  subtitle={real life experiences, previous training and the need for training among physicians and nurses},
  year={2019},
  language={eng},
  issn={1756-0500},
  volume={12(2019) Artikel-Nummer 19},
  number={7 Seiten},
  note={Gesehen am 12.11.2019},
  journal={BMC Research Notes},
  doi={10.1186/s13104-019-4051-4},
  url={https://doi.org/10.1186/s13104-019-4051-4},
  library={UB},
}
@book{UBHD-68378153,
  author={Lehmann, Ronny and Meyburg, Jochen and Hoppe, Bettina and Hoffmann, Georg F. and T{\"o}nshoff, Burkhard},
  title={Pediatric in-hospital emergencies},
  subtitle={real life experiences, previous training and the need for training among physicians and nurses},
  publisher={BioMed Central},
  address={London},
  year={2019},
  pages={1 Online-Ressource},
  language={eng},
  note={In: BMC Research Notes, 12 (2019), Nr. 19. pp. 1-7. ISSN 1756-0500},
  doi={10.1186/s13104-019-4051-4},
  url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-259233},
  library={UB},
}
@article{UBHD-68373861,
  author={Lenz, Dominic and Staufner, Christian and W{\"a}chter, Selina and G{\"o}hring, Gudrun and K{\"o}lker, Stefan and Hoffmann, Georg F. and Jung-Klawitter, Sabine},
  title={Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS},
  subtitle={DHMCi004-A},
  year={2019},
  pages={4 S.},
  language={eng},
  issn={1876-7753},
  volume={35(2019) Artikel-Nummer 101398},
  number={4 Seiten},
  note={Gesehen am 28.03.2019},
  journal={Stem cell research},
  doi={10.1016/j.scr.2019.101398},
  url={https://doi.org/10.1016/j.scr.2019.101398},
  library={UB},
}
@article{UBHD-68393189,
  author={Lenz, Dominic and Staufner, Christian and W{\"a}chter, Selina and Hagedorn, Maike and Ebersold, Juliane and G{\"o}hring, Gudrun and K{\"o}lker, Stefan and Hoffmann, Georg F. and Jung-Klawitter, Sabine},
  title={Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1},
  year={2019},
  language={eng},
  issn={1876-7753},
  volume={37(2019) Artikel-Nummer 101428},
  number={5 Seiten},
  note={Gesehen am 27.05.2019},
  journal={Stem cell research},
  doi={10.1016/j.scr.2019.101428},
  url={https://doi.org/10.1016/j.scr.2019.101428},
  library={UB},
}
@article{UBHD-69241271,
  author={Lenz, Dominic and Schlieben, Lea D. and Shimura, Masaru and Bianzano, Alyssa and Smirnov, Dmitrii and Kopajtich, Robert and Berutti, Riccardo and Adam, R{\"u}diger and Aldrian, Denise and Baric, Ivo and Baumann, Ulrich and Bozbulut, Neslihan E. and Brugger, Melanie and Brunet, Theresa and Bufler, Philip and Burnytė, Birutė and Calvo, Pier L. and Crushell, Ellen and Dalgiç, Buket and Das, Anibh M. and Dezsőfi, Antal and Distelmaier, Felix and Fichtner, Alexander and Freisinger, Peter and Garbade, Sven and Gaspar, Harald and Goujon, Louise and Hadzic, Nedim and Hartleif, Steffen and Hegen, Bianca and Hempel, Maja and Henning, Stephan and Hoerning, Andre and Houwen, Roderick and Hughes, Joanne and Iorio, Raffaele and Iwanicka-Pronicka, Katarzyna and Jankofsky, Martin and Junge, Norman and Kanavaki, Ino and Kansu, Aydan and Kaspar, Sonja and Kathemann, Simone and Kelly, Deidre and Kirsaçlioğlu, Ceyda T. and Knoppke, Birgit and Kohl, Martina and K{\"o}lbel, Heike and K{\"o}lker, Stefan and Konstantopoulou, Vassiliki and Krylova, Tatiana and Kuloğlu, Zarife and Kuster, Alice and Laass, Martin W. and Lainka, Elke and Lurz, Eberhard and Mandel, Hanna and Mayerhanser, Katharina and Mayr, Johannes A. and McKiernan, Patrick and McClean, Patricia and McLin, Valerie and Mention, Karine and M{\"u}ller, Hanna and Pasquier, Laurent and Pavlov, Martin and Pechatnikova, Natalia and Peters, Bianca and Petković Ramadža, Danijela and Piekutowska-Abramczuk, Dorota and Pilic, Denisa and Rajwal, Sanjay and Rock, Nathalie and Roetig, Agnès and Santer, René and Schenk, Wilfried and Semenova, Natalia and Sokollik, Christiane and Sturm, Ekkehard and Taylor, Robert W. and Tschiedel, Eva and Urbonas, Vaidotas and Urreizti, Roser and Vermehren, Jan and Vockley, Jerry and Vogel, Georg-Friedrich and Wagner, Matias and van der Woerd, Wendy and Wortmann, Saskia B. and Zakharova, Ekaterina and Hoffmann, Georg F. and Meitinger, Thomas and Murayama, Kei and Staufner, Christian and Prokisch, Holger},
  title={Genetic landscape of pediatric acute liver failure of indeterminate origin},
  year={2024},
  pages={1075-1087},
  language={eng},
  issn={1527-3350},
  volume={79},
  number={5 vom: Mai},
  note={Gesehen am 07.08.2024},
  journal={Hepatology},
  doi={10.1097/HEP.0000000000000684},
}
@article{UBHD-69114527,
  author={Lenz, Dominic and Pahl, Jens and Hauck, Fabian and Alameer, Seham and Balasubramanian, Meena and Baric, Ivo and Boy, Nikolas and Church, Joseph A. and Crushell, Ellen and Dick, Anke and Distelmaier, Felix and Gujar, Jidnyasa and Indolfi, Giuseppe and Lurz, Eberhard and Peters, Bianca and Schwerd, Tobias and Serranti, Daniele and K{\"o}lker, Stefan and Klein, Christoph and Hoffmann, Georg F. and Prokisch, Holger and Greil, Johann and Cerwenka, Adelheid and Giese, Thomas and Staufner, Christian},
  title={NBAS variants are associated with quantitative and ualitative NK and B Cell deficiency},
  year={2021},
  pages={1781-1793},
  language={eng},
  issn={1573-2592},
  volume={41},
  number={8},
  note={Gesehen am 21.08.2023},
  journal={Journal of clinical immunology},
  doi={10.1007/s10875-021-01110-7},
  url={https://doi.org/10.1007/s10875-021-01110-7},
  library={UB},
}
@article{UBHD-68494004,
  author={Lenz, Dominic and Thiel, Christian and Straub, Beate Katharina and Harting, Inga and Dimitrov, Bianca and Kotzaeridou, Urania and K{\"o}lker, Stefan and Hoffmann, Georg F. and Staufner, Christian},
  title={SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)},
  year={2018},
  pages={1255-1265},
  language={eng},
  issn={1530-0366},
  volume={20},
  number={10},
  note={Gesehen am 27.02.2020},
  journal={Genetics in medicine},
  doi={10.1038/gim.2017.260},
}
@article{UBHD-68299619,
  author={Leuzzi, Vincenzo and Hoffmann, Georg F.},
  title={Neuromotor and cognitive outcomes of early treatment in tyrosine hydroxylase deficiency type B},
  year={2017},
  pages={501-502},
  language={eng},
  issn={1526-632X},
  volume={88},
  number={5},
  note={First published: December 20, 2016 ; Gesehen am 28.08.2018},
  journal={Neurology},
  doi={10.1212/WNL.0000000000003539},
}
@article{UBHD-68957610,
  author={Lichtenstein, Silke and Teufel-Sch{\"a}fer, Ulrike and Weiland, Caroline and Engel, N. and Engelmann, Guido and Hoffmann, Georg F. and Grulich-Henn, J{\"u}rgen},
  title={Adipositaspr{\"a}vention in Grundschulen},
  subtitle={nachhaltige Senkung des Adipositasrisikos bei Grundsch{\"u}lern mittels schulbasiertem Pr{\"a}ventionsprogramm},
  year={2011},
  pages={751-757},
  language={ger},
  issn={1433-0474},
  volume={159},
  number={8},
  note={Gesehen am 26.08.2022},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-011-2467-6},
}
@article{UBHD-68676303,
  author={Linderkamp, Otwin and Ruef, Peter and Zilow, Eugen and Hoffmann, Georg F.},
  title={Impaired deformability of erythrocytes and neutrophils in children with newly diagnosed insulin-dependent diabetes mellitus},
  year={1999},
  pages={865-869},
  language={eng},
  issn={1432-0428},
  volume={42},
  number={7},
  note={Gesehen am 29.12.2020},
  journal={Diabetologia},
  doi={10.1007/s001250051239},
}
@article{UBHD-68964264,
  author={Lindner, Martin and Gramer, Gwendolyn and Haege, Gisela and Fang-Hoffmann, Junmin and Schwab, Karl O. and Tacke, Uta and Trefz, Friedrich K. and Mengel, Eugen and Wendel, Udo and Leichsenring, Michael and Burgard, Peter and Hoffmann, Georg F.},
  title={Efficacy and outcome of expanded newborn screening for metabolic diseases},
  subtitle={report of 10 years from South-West Germany},
  year={2011},
  pages={1-10},
  language={eng},
  issn={1750-1172},
  volume={6},
  number={Artikel-ID 44},
  note={Gesehen am 14.09.2022},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/1750-1172-6-44},
}
@article{UBHD-69056877,
  author={Lindner, Martin and Hoffmann, Georg F. and Matern, Dietrich},
  title={Newborn screening for disorders of fatty-acid oxidation},
  subtitle={experience and recommendations from an expert meeting},
  year={2010},
  pages={521-526},
  language={eng},
  issn={1573-2665},
  volume={33},
  number={5 vom: Okt.},
  note={Gesehen am 28.03.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-010-9076-8},
}
@article{UBHD-68321597,
  author={Loeber, J. Gerard and Burgard, Peter and Rupp, Kathrin and Hoffmann, Georg F.},
  title={Newborn screening programmes in Europe; arguments and efforts regarding harmonization},
  subtitle={Part 1 - From blood spot to screening result},
  year={2012},
  pages={603-611},
  language={eng},
  issn={1573-2665},
  volume={35},
  number={4},
  note={Gesehen am 26.10.2018 ; Presented at the Annual Symposium of the SSIEM, Geneva, Switzerland, August 30 - September 2, 2011},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-012-9483-0},
}
@article{UBHD-68675564,
  author={Lukacs, Zoltan and Keil, A. and Peters, Verena and Kohlsch{\"u}tter, A. and Hoffmann, Georg F. and Cantz, Michael and Kopitz, J{\"u}rgen},
  title={Towards quality assurance in the determination of lysosomal enzymes},
  subtitle={a two-centre study},
  year={2003},
  pages={571-581},
  language={eng},
  issn={1573-2665},
  volume={26},
  number={6},
  note={This revised version was published online in August 2006 with corrections to the cover date ; Gesehen am 21.12.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1023/A:1025904132569},
}
@book{UBHD-67987524,
  author={Lutz, Thomas and Lampert, Anette and Hoffmann, Georg F. and Ries, Markus},
  title={Novel treatments for rare rheumatologic disorders},
  subtitle={analysis of the impact of 30 years of the US orphan drug act},
  publisher={BioMed Central},
  address={London},
  year={2016},
  pages={1 Online-Ressource (12 Seiten)},
  language={eng},
  note={Wissenschaftlicher Aufsatz aus:Orphanet Journal of Rare Diseases, 11 (2016), Nr. 60. pp. 1-12. ISSN 1750-1172},
  url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-207031},
  library={UB},
}
@article{UBHD-68387985,
  author={Lutz, Thomas and Lampert, Anette and Hoffmann, Georg F. and Ries, Markus},
  title={Novel treatments for rare rheumatologic disorders},
  subtitle={analysis of the impact of 30 years of the US orphan drug act},
  year={2016},
  pages={1-8},
  language={eng},
  issn={1750-1172},
  volume={11},
  number={Artikel-ID 60},
  note={Gesehen am 08.05.2019},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-016-0443-x},
}
@article{UBHD-68675881,
  author={Ly-Hartig, Thi Bach Nga and Peters, Verena and Gibson, K. Michael and Liesert, Michael and Buckel, Wolfgang and Wilcken, Bridget and Carpenter, Kevin and Ensenauer, Regina and Hoffmann, Georg F. and Mack, Matthias and Zschocke, Johannes},
  title={Mutations in the AUH gene cause 3-methylglutaconic aciduria type I},
  year={2003},
  pages={401-407},
  language={eng},
  issn={1098-1004},
  volume={21},
  number={4},
  note={Gesehen am 22.12.2020},
  journal={Human mutation},
  doi={10.1002/humu.10202},
}
@article{UBHD-68805566,
  author={M{\"a}rtner, E.M. Charlotte and Thimm, Eva and Guder, Philipp and Schiergens, Katharina A. and Rutsch, Frank and Roloff, Sylvia and Marquardt, Iris and Das, Anibh M. and Freisinger, Peter and Gr{\"u}nert, Sarah and Kr{\"a}mer, Johannes and Baumgartner, Matthias R. and Beblo, Skadi and Haase, Claudia and Dieckmann, Andrea and Lindner, Martin and N{\"a}ke, Andrea and Hoffmann, Georg F. and M{\"u}hlhausen, Chris and Walter, Magdalena and Garbade, Sven and Maier, Esther M. and K{\"o}lker, Stefan and Boy, Nikolas},
  title={The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1},
  subtitle={a national prospective follow-up study},
  year={2021},
  pages={1-12},
  language={eng},
  issn={2045-2322},
  volume={11},
  number={Artikel-ID 19300},
  note={Verlagskorrektur erschienen am 12. Oktober 2021 mit dem DOI 10.1038/s41598-021-00137-5 wegen falscher Affiliationsangabe f{\"u}r Herrn Nikolas Boy ; Gesehen am 26.11.2021},
  journal={Scientific reports},
  doi={10.1038/s41598-021-98809-9},
  url={https://doi.org/10.1038/s41598-021-98809-9},
  library={UB},
}
@article{UBHD-68807804,
  author={M{\"a}rtner, E.M. Charlotte and Maier, Esther M. and Mengler, Katharina and Thimm, Eva and Schiergens, Katharina A. and Marquardt, Thorsten and Santer, René and Weinhold, Natalie and Marquardt, Iris and Das, Anibh M. and Freisinger, Peter and Gr{\"u}nert, Sarah C. and Vossbeck, Judith and Steinfeld, Robert and Baumgartner, Matthias R. and Beblo, Skadi and Dieckmann, Andrea and N{\"a}ke, Andrea and Lindner, Martin and Heringer-Seifert, Jana and Lenz, Dominic and Hoffmann, Georg F. and M{\"u}hlhausen, Chris and Ensenauer, Regina and Garbade, Sven and K{\"o}lker, Stefan and Boy, Nikolas},
  title={Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1},
  subtitle={a national prospective multi-centre study},
  year={2021},
  pages={629-638},
  language={eng},
  issn={1573-2665},
  volume={44},
  number={3},
  note={First published: 03 December 2020 ; Gesehen am 03.12.2021},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12335},
  url={https://doi.org/10.1002/jimd.12335},
  library={UB},
}
@article{UBHD-69132102,
  author={Maier, Esther M. and M{\"u}tze, Ulrike and Janzen, Nils and Steuerwald, Ulrike and Nennstiel-Ratzel, Uta and Odenwald, Birgit and Schuhmann, Elfriede and Lotz-Havla, Amelie S. and Weiss, Katharina J. and Hammersen, Johanna and Weigel, Corina and Thimm, Eva and Gr{\"u}nert, Sarah and Hennermann, Julia B. and Freisinger, Peter and Kr{\"a}mer, Johannes and Das, Anibh M. and Illsinger, Sabine and Gramer, Gwendolyn and Fang-Hoffmann, Junmin and Garbade, Sven and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and K{\"o}lker, Stefan and R{\"o}schinger, Wulf},
  title={Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples},
  year={2023},
  pages={1-20},
  language={eng},
  issn={1573-2665},
  note={Vor der Ver{\"o}ffentlichung im Heft online ver{\"o}ffentlicht: 21. August 2023 ; Gesehen am 20.10.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12671},
}
@article{UBHD-69218593,
  author={Mayatepek, Ertan and Hoffmann, Georg F. and Larsson, A. and Becker, Katja and Bremer, Hans J.},
  title={5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anaemia},
  year={1995},
  pages={83-84},
  language={eng},
  issn={1573-2665},
  volume={18},
  number={1},
  note={Gesehen am 29.05.2024},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/BF00711382},
}
@article{UBHD-69218076,
  author={Mayatepek, Ertan and Hoffmann, Georg F. and Baumgartner, R. and Schulze, Andreas and Jakobs, C. and Trefz, Friedrich K. and Bremer, Hans J.},
  title={Atypical vitamin B12-unresponsive methylmalonic aciduria in a sibship with severe progressive encephalomyelopathy},
  subtitle={a new genetic disease?},
  year={1996},
  pages={398-403},
  language={eng},
  issn={1432-1076},
  volume={155},
  number={5},
  note={Im Titel ist 12 tiefgestellt ; Gesehen am 28.05.2024},
  journal={European journal of pediatrics},
  doi={10.1007/BF01955272},
}
@article{UBHD-69218605,
  author={Mayatepek, Ertan and Wanders, R. J. A. and Becker, M. and Bremer, Hans J. and Hoffmann, Georg F.},
  title={Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria},
  year={1995},
  pages={249-252},
  language={eng},
  issn={1573-2665},
  volume={18},
  number={2},
  note={Gesehen am 29.05.2024},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/BF00711780},
}
@article{UBHD-68719851,
  author={Mayr, Toni and Ferenci, Peter and Weiler, Markus and Fichtner, Alexander and Mehrabi, Arianeb and Hoffmann, Georg F. and Mohr, Isabelle and Pfeiffenberger, Jan and Weiss, Karl Heinz and Teufel-Sch{\"a}fer, Ulrike},
  title={Optimized trientine-dihydrochloride therapy in pediatric patients with wilson disease},
  subtitle={is weight-based dosing justified?},
  year={2021},
  pages={115-122},
  language={eng},
  issn={1536-4801},
  volume={72},
  number={1 vom: Jan.},
  note={Gesehen am 01.04.2021},
  journal={Journal of pediatric gastroenterology and nutrition},
  doi={10.1097/MPG.0000000000002902},
}
@article{UBHD-68306130,
  author={Mechler, Konstantin and Hoffmann, Georg F. and Dittmann, Ralf and Ries, Markus},
  title={Defining the hidden evidence in autism research},
  subtitle={forty per cent of rigorously designed clinical trials remain unpublished$da cross-sectional analysis},
  year={2017},
  pages={7 S.},
  language={eng},
  issn={1557-0657},
  volume={26 (2017},
  note={First published: 09 November 2016 ; Gesehen am 19.09.2018},
  journal={International journal of methods in psychiatric research},
  doi={10.1002/mpr.1546},
}
@article{UBHD-67870658,
  author={Mechler, Konstantin and Hoffmann, Georg F. and Ries, Markus},
  title={Pressure for drug development in lysosomal storage disorders},
  subtitle={a quantitative analysis thirty years beyond the US orphan drug act},
  year={2015},
  language={eng},
  issn={1750-1172},
  volume={10(2015) Artikel-Nr. 46},
  number={9 S.},
  note={Gesehen am 10.09.2015},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-015-0262-5},
  url={http://dx.doi.org/10.1186/s13023-015-0262-5},
  library={UB},
}
@book{UBHD-67930053,
  author={Mechler, Konstantin and Hoffmann, Georg F. and Ries, Markus},
  title={Pressure for drug development in lysosomal storage disorders},
  subtitle={a quantitative analysis thirty years beyond the US orphan drug act},
  publisher={BioMed Central},
  address={London},
  year={2015},
  pages={1 Online-Ressource (9 Seiten)},
  language={eng},
  note={Aus: Orphanet Journal of Rare Diseases, 10 (2015), Nr. 46. pp. 1-9. ISSN 1750-1172},
  url={http://www.ub.uni-heidelberg.de/archiv/19407},
  library={UB},
}
@article{UBHD-68013003,
  author={Mechler, Konstantin and Hoffmann, Georg F. and Ries, Markus},
  title={Ultra-orphan diseases},
  subtitle={a quantitative analysis of the natural history of molybdenum cofactor deficiency},
  year={2015},
  pages={965-970},
  language={eng},
  issn={1530-0366},
  volume={17},
  number={12},
  note={Gesehen am 01.08.2016},
  journal={Genetics in medicine},
  doi={10.1038/gim.2015.12},
}
@article{UBHD-69351244,
  author={Mengler, Katharina and Garbade, Sven and Gleich, Florian and Thimm, Eva and May, Petra and Lindner, Martin and L{\"u}sebrink, Natalia and Marquardt, Thorsten and H{\"u}bner, Vanessa and Kr{\"a}mer, Johannes and Neugebauer, Julia and Beblo, Skadi and Gillitzer, Claus and Gr{\"u}nert, Sarah C. and Hennermann, Julia B. and Kamrath, Clemens and Marquardt, Iris and N{\"a}ke, Andrea and Murko, Simona and Schmidt, Sebastian and Schnabel-Besson, Elena and Lommer-Steinhoff, Svenja and Hoffmann, Georg F. and Beime, Jan and Santer, René and K{\"o}lker, Stefan and M{\"u}tze, Ulrike},
  title={Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening},
  year={2024},
  pages={1-11},
  language={eng},
  issn={1098-4275},
  volume={154},
  note={Gesehen am 02.06.2025},
  journal={Pediatrics},
  doi={10.1542/peds.2023-064370},
}
@article{UBHD-68676218,
  author={Meyburg, Jochen and Schulze, Andreas and Kohlm{\"u}ller, Dirk and P{\"o}schl, Johannes and Linderkamp, Otwin and Hoffmann, Georg F. and Mayatepek, Ertan},
  title={Acylcarnitine profiles of preterm infants over the first four weeks of life},
  year={2002},
  pages={720-723},
  language={eng},
  issn={1530-0447},
  volume={52},
  number={5},
  note={Gesehen am 28.12.2020},
  journal={Pediatric research},
  doi={10.1203/00006450-200211000-00018},
}
@article{UBHD-68333418,
  author={Meyburg, Jochen and Opladen, Thomas and Schenk, Jens-Peter and Schmidt, Jan and Weitz, J{\"u}rgen and Okun, J{\"u}rgen G. and B{\"u}rger, Friederike and K{\"o}lker, Stefan and Hoffmann, Georg F.},
  title={Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders},
  year={2018},
  pages={81-90},
  language={eng},
  issn={1573-2665},
  volume={41},
  number={1},
  note={First online: 12 October 2017 ; Gesehen am 28.11.2018},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-017-0097-4},
}
@article{UBHD-69067528,
  author={Meyburg, Jochen and Hoffmann, Georg F.},
  title={Liver, liver cell and stem cell transplantation for the treatment of urea cycle defects},
  year={2010},
  pages={S77-S83},
  language={eng},
  issn={1096-7206},
  volume={100},
  note={Gesehen am 20.04.2023},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2010.01.011},
}
@article{UBHD-69067513,
  author={Meyburg, Jochen and H{\"o}rster, Friederike and Schmidt, Jan and P{\"o}schl, Johannes and Hoffmann, Georg F. and Schenk, Jens-Peter},
  title={Monitoring of intraportal liver cell application in children},
  year={2010},
  pages={629-638},
  language={eng},
  issn={1555-3892},
  volume={19},
  number={5},
  note={Gesehen am 20.04.2023},
  journal={Cell transplantation},
  doi={10.3727/096368909X485058},
}
@article{UBHD-68955719,
  author={Miller, Bradley and Freeze, Hudson H. and Hoffmann, Georg F. and Sarafoglou, Kyriakie},
  title={Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic)},
  year={2011},
  pages={101-103},
  language={eng},
  issn={1096-7206},
  volume={103},
  number={1},
  note={Gesehen am 19.08.2022},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2011.01.016},
}
@article{UBHD-68405757,
  author={Monostori, Péter and Klinke, Glynis and Garbade, Sven and Hoffmann, Georg F. and Langhans, Claus-Dieter and Haas, Dorothea and Okun, J{\"u}rgen G.},
  title={Extended diagnosis of purine and pyrimidine disorders from urine},
  subtitle={LC MS/MS assay development and clinical validation},
  year={2019},
  pages={17 S.},
  language={eng},
  issn={1932-6203},
  volume={14(2019},
  note={Gesehen am 08.07.2019},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0212458},
  url={https://doi.org/10.1371/journal.pone.0212458},
  library={UB},
}
@article{UBHD-69052451,
  author={Monostori, Péter and Godejohann, Markus and Janda, Joachim and Galla, Zsolt and Rácz, Gábor and Klinke, Glynis and Szatmári, Ildikó and Zsidegh, Petra and Kohlm{\"u}ller, Dirk and K{\"o}lker, Stefan and Hoffmann, Georg F. and Gramer, Gwendolyn and Okun, J{\"u}rgen G.},
  title={Identification of potential interferents of methylmalonic acid},
  subtitle={a previously unrecognized pitfall in clinical diagnostics and newborn screening},
  year={2023},
  pages={72-80},
  language={eng},
  issn={1873-2933},
  volume={111(2023) vom: Jan.},
  note={Online ver{\"o}ffentlicht am 3. Oktober 2022 ; Gesehen am 16.11.2023},
  journal={Clinical biochemistry},
  doi={10.1016/j.clinbiochem.2022.09.010},
}
@article{UBHD-68247082,
  author={Monostori, Péter and Klinke, Glynis and Richter, Sylvia and K{\"o}lker, Stefan and Hoffmann, Georg F. and Gramer, Gwendolyn and Okun, J{\"u}rgen G.},
  title={Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots},
  subtitle={Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders},
  year={2017},
  pages={16 S.},
  language={eng},
  issn={1932-6203},
  volume={12(2017},
  note={Gesehen am 26.04.2018},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0184897},
  url={http://dx.doi.org/10.1371/journal.pone.0184897},
  library={UB},
}
@article{UBHD-69072059,
  author={Morava-Kozicz, Eva and Wevers, Ron A. and Cantagrel, Vincent and Hoefsloot, Lies H. and Al-Gazali, Lihadh and Schoots, Jeroen and Rooij, Arno van and Huijben, Karin and Ravenswaaij-Arts, Connie M. A. van and Jongmans, Marjolein C. J. and Sykut-Cegielska, Jolanta and Hoffmann, Georg F. and Bluemel, Peter and Adamowicz, Maciej and Reeuwijk, Jeroen van and Ng, Bobby G. and Bergman, Jorieke E. H. and van Bokhoven, Hans and K{\"o}rner, Christian and Babovic-Vuksanovic, Dusica and Willemsen, Michel A. and Gleeson, Joseph G. and Lehle, Ludwig and Brouwer, Arjan P. M. de and Lefeber, Dirk J.},
  title={A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism},
  year={2010},
  pages={3210-3220},
  language={eng},
  issn={1460-2156},
  volume={133},
  number={11 vom: Nov.},
  note={Gesehen am 04.05.2023},
  journal={Brain},
  doi={10.1093/brain/awq261},
}
@article{UBHD-68967083,
  author={M{\"u}hlig, Anne K. and Steingr{\"o}ver, Johanna and Heidelbach, Hannah S. and Wingerath, Madelaine and Sachs, Wiebke and Hermans-Borgmeyer, Irm and Meyer-Schwesinger, Catherine and Choi, Hoon Young and Lim, Beom Jin and Patry, Christian and Hoffmann, Georg F. and Endlich, Nicole and Bracke, Katharina and Weiß, Mariella and Guse, Andreas H. and Lassé, Moritz and Rinschen, Markus M. and Braun, Fabian and Huber, Tobias B. and Puelles, Victor G. and Schmitt, Claus P. and Oh, Jun},
  title={The calcium-sensing receptor stabilizes podocyte function in proteinuric humans and mice},
  year={2022},
  pages={1186-1199},
  language={eng},
  issn={1523-1755},
  volume={101},
  number={6 vom: Juni},
  note={Gesehen am 25.09.2022},
  journal={Kidney international},
  doi={10.1016/j.kint.2022.01.036},
}
@article{UBHD-68784520,
  author={M{\"u}tze, Ulrike and Walter, Magdalena and Keller, Mareike and Gramer, Gwendolyn and Garbade, Sven and Gleich, Florian and Haas, Dorothea and Posset, Roland and Gr{\"u}nert, Sarah C. and Hennermann, Julia B. and Thimm, Eva and Fang-Hoffmann, Junmin and Syrbe, Steffen and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and K{\"o}lker, Stefan},
  title={Health outcomes of infants with vitamin B12 deficiency identified by newborn screening and early treated},
  year={2021},
  pages={42-48},
  language={eng},
  issn={1097-6833},
  volume={235(2021) vom: Aug.},
  note={Im Titel ist die Zahl 12 tiefgestellt ; Gesehen am 29.09.2021},
  journal={The journal of pediatrics},
  doi={10.1016/j.jpeds.2021.02.009},
}
@article{UBHD-68679973,
  author={M{\"u}tze, Ulrike and Garbade, Sven and Gramer, Gwendolyn and Lindner, Martin and Freisinger, Peter and Gr{\"u}nert, Sarah and Hennermann, Julia and Ensenauer, Regina and Thimm, Eva and Zirnbauer, Judith and Leichsenring, Michael and Gleich, Florian and H{\"o}rster, Friederike and Grohmann-Held, Karina and Boy, Nikolas and Fang-Hoffmann, Junmin and Burgard, Peter and Walter, Magdalena and Hoffmann, Georg F. and K{\"o}lker, Stefan},
  title={Long-term outcomes of individuals with metabolic diseases identified through newborn screening},
  year={2020},
  pages={11 S.},
  language={eng},
  issn={1098-4275},
  volume={146(2020},
  note={Gesehen am 14.01.2020},
  journal={Pediatrics},
  doi={10.1542/peds.2020-0444},
}
@article{UBHD-69194374,
  author={M{\"u}tze, Ulrike and Ottenberger, Alina and Gleich, Florian and Maier, Esther M. and Lindner, Martin and Husain, Ralf and Palm, Katja and Beblo, Skadi and Freisinger, Peter and Santer, René and Thimm, Eva and Vom Dahl, Stephan and Weinhold, Natalie and Grohmann-Held, Karina and Haase, Claudia and Hennermann, Julia B. and H{\"o}rbe-Blindt, Alexandra and Kamrath, Clemens and Marquardt, Iris and Marquardt, Thorsten and Behne, Robert Stefan Friedrich and Haas, Dorothea and Spiekerk{\"o}tter, Ute and Hoffmann, Georg F. and Garbade, Sven and Gr{\"u}nert, Sarah and K{\"o}lker, Stefan},
  title={Neurological outcome in long-chain hydroxy fatty acid oxidation disorders},
  year={2024},
  pages={883-898},
  language={eng},
  issn={2328-9503},
  volume={11},
  number={4},
  note={Gesehen am 22.03.2024},
  journal={Annals of Clinical and Translational Neurology},
  doi={10.1002/acn3.52002},
}
@article{UBHD-68880738,
  author={M{\"u}tze, Ulrike and Henze, Lucy and Gleich, Florian and Lindner, Martin and Gr{\"u}nert, Sarah and Spiekerk{\"o}tter, Ute and Santer, René and Blessing, Holger and Thimm, Eva and Ensenauer, Regina and Weigel, Johannes and Beblo, Skadi and Arélin, Maria and Hennermann, Julia B. and Marquardt, Thorsten and Marquardt, Iris and Freisinger, Peter and Kr{\"a}mer, Johannes and Dieckmann, Andrea and Weinhold, Natalie and Keller, Mareike and Walter, Magdalena and Schiergens, Katharina Anna and Maier, Esther M. and Hoffmann, Georg F. and Garbade, Sven and K{\"o}lker, Stefan},
  title={Newborn screening and disease variants predict neurological outcome in isovaleric aciduria},
  year={2021},
  pages={1-14},
  language={eng},
  issn={1573-2665},
  volume={44},
  number={4 vom: 25. Jan.},
  note={First published: 25.01.2021},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12364},
  url={https://doi.org/10.1002/jimd.12364},
  library={UB},
}
@article{UBHD-69346455,
  author={M{\"u}tze, Ulrike and Gleich, Florian and Haas, Dorothea and Urschitz, Michael S. and R{\"o}schinger, Wulf and Janzen, Nils and Hoffmann, Georg F. and Garbade, Sven and Syrbe, Steffen and K{\"o}lker, Stefan},
  title={Vitamin B12 deficiency newborn screening},
  year={2024},
  pages={1-10},
  language={eng},
  issn={1098-4275},
  volume={154},
  note={Online verf{\"u}gbar: 23. Juli 2024 ; Im Titel ist 12 tiefgestellt ; Gesehen am 20.05.2025},
  journal={Pediatrics},
  doi={10.1542/peds.2023-064809},
}
@article{UBHD-68966123,
  author={Nennstiel-Ratzel, Uta and Hoffmann, Georg F. and Lindner, Martin},
  title={Neugeborenenscreening auf Stoffwechsel- und Hormonst{\"o}rungen},
  subtitle={Herausforderungen in Klinik und Praxis},
  year={2011},
  pages={814-820},
  language={ger and eng},
  issn={1433-0474},
  volume={159},
  number={9},
  note={Gesehen am 21.09.2022},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-011-2442-2},
}
@book{UBHD-68129213,
  author={Nettesheim, Susanne and K{\"o}lker, Stefan and Posset, Roland and Hoffmann, Georg F. and Gleich, Florian and Garbade, Sven},
  title={Incidence, disease onset and short-term outcome in urea cycle disorders - cross-border surveillance in Germany, Austria and Switzerland},
  publisher={BioMed Central},
  address={London},
  year={2017},
  pages={1 Online-Ressource (8 Seiten)},
  language={eng},
  note={Aus: Orphanet Journal of Rare Diseases, 12 (2017), Nr. 111. pp. 1-8. ISSN 1750-1172 ; Gesehen am 16.06.2017},
  doi={10.1186/s13023-017-0661-x},
  url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-230873},
  library={UB},
}
@article{UBHD-68189543,
  author={Nettesheim, Susanne and K{\"o}lker, Stefan and Posset, Roland and Hoffmann, Georg F. and Gleich, Florian and Garbade, Sven},
  title={Incidence, disease onset and short-term outcome in urea cycle disorders - cross-border surveillance in Germany, Austria and Switzerland},
  year={2017},
  language={eng},
  issn={1750-1172},
  volume={12(2017) Artikel-Nummer 111},
  number={8 Seiten},
  note={Gesehen am 14.11.2017},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-017-0661-x},
  url={http://dx.doi.org/10.1186/s13023-017-0661-x},
  library={UB},
}
@article{UBHD-68627240,
  author={Niemann, Dorothee and Bertsche, Astrid and Meyrath, David and Oelsner, S. and Ewen, A. L. and Pickardt, Bj{\"o}rn von and Henhapl, T. and Hoffmann, Georg F. and Meyburg, Jochen and Bertsche, Thilo},
  title={Drug handling in a paediatric intensive care unit},
  subtitle={can errors be prevented by a three-step intervention?},
  year={2014},
  pages={62-67},
  language={eng},
  issn={1439-3824},
  volume={226},
  number={02},
  note={Gesehen am 13.08.2020},
  journal={Klinische P{\"a}diatrie},
  doi={10.1055/s-0033-1364030},
}
@article{UBHD-68700618,
  author={Niemann, Dorothee and Bertsche, Astrid and Meyrath, David and Koepf, Ellen D. and Traiser, Carolin and Seebald, Katja and Schmitt, Claus P. and Hoffmann, Georg F. and Haefeli, Walter E. and Bertsche, Thilo},
  title={A prospective three-step intervention study to prevent medication errors in drug handling in paediatric care},
  year={2015},
  pages={101-114},
  language={eng},
  issn={1365-2702},
  volume={24},
  number={1-2},
  note={First published: 03 June 2014 ; Gesehen am 17.02.2021},
  journal={Journal of clinical nursing},
  doi={10.1111/jocn.12592},
}
@article{UBHD-67594668,
  author={Nikendei, Christoph and J{\"u}nger, Jana and Schultz, Jobst-Hendrik and Bosse, Hans-Martin and Hoffmann, Katja and M{\"o}ltner, Andreas and Hancke, Rabea Judith and Conrad, Corinna and Huwendiek, S{\"o}ren and Hoffmann, Georg F. and Herzog, Wolfgang},
  title={Outcome of parent-physician communication skills training for pediatric residents},
  year={2011},
  pages={94-99},
  language={eng},
  issn={1873-5134},
  volume={82},
  number={1},
  note={Gesehen am 11.06.14},
  journal={Patient education and counseling},
  doi={10.1016/j.pec.2009.12.013},
}
@article{UBHD-68805303,
  author={Nota, Benjamin and Struys, Eduard A. and Pop, Ana and Jansen, Erwin E. and Fernandez Ojeda, Matilde R. and Kanhai, Warsha A. and Kranendijk, Martijn and van Dooren, Silvy J. M. and Bevova, Marianna R. and Sistermans, Erik A. and Nieuwint, Aggie W. M. and Barth, Magalie and Ben-Omran, Tawfeg and Hoffmann, Georg F. and de Lonlay, Pascale and McDonald, Marie T. and Meberg, Alf and Muntau, Ania C. and Nuoffer, Jean-Marc and Parini, Rossella and Read, Marie-Hélène and Renneberg, Axel and Santer, René and Strahleck, Thomas and van Schaftingen, Emile and van der Knaap, Marjo S. and Jakobs, Cornelis and Salomons, Gajja S.},
  title={Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria},
  year={2013},
  pages={627-631},
  language={eng},
  issn={1537-6605},
  volume={92},
  number={4},
  note={Gesehen am 25.11.2021},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2013.03.009},
}
@article{UBHD-69085882,
  author={Oberste-Berghaus, Corinna and H{\"o}ppner, Jakob and Burgard, Peter and Sch{\"u}ndeln, Michael Maria and Matar, Nora and M{\"u}ller, Gabriele and Krude, Heiko and Berner, Reinhard and Lee-Kirsch, Min Ae and Hauck, Fabian and Wainwright, Kerstin and Baumgarten, Sylvana and Atinga, Janet and Bauer, Jens J. and Manka, Eva and K{\"o}rholz, Julia and Kiewert, Cordula and Heinen, André and Kretschmer, Tanita and Kurth, Tobias and Mittnacht, Janna and Schramm, Christoph and Klein, Christoph and Graessner, Holm and Hiort, Olaf and Muntau, Ania C. and Gr{\"u}ters, Annette and Hoffmann, Georg F. and Choukair, Daniela},
  title={Transition for adolescents with a rare disease},
  subtitle={results of a nationwide German project},
  year={2023},
  pages={1-9},
  language={eng},
  issn={1750-1172},
  volume={18(2023) vom: Apr.},
  number={Artikel-ID 93},
  note={Gesehen am 15.06.2023},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-023-02698-2},
}
@article{UBHD-68770391,
  author={Okun, J{\"u}rgen G. and K{\"o}lker, Stefan and Schulze, Andreas and Kohlm{\"u}ller, Dirk and Vill, Katharina and Lindner, Martin and Hoffmann, Georg F. and Wanders, Ronald J. A and Mayatepek, Ertan},
  title={A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid},
  subtitle={diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency},
  year={2002},
  pages={91-98},
  language={eng},
  issn={1879-2618},
  volume={1584},
  number={2},
  note={Gesehen am 13.08.2021},
  journal={Biochimica et biophysica acta},
  doi={10.1016/S1388-1981(02)00296-2},
}
@article{UBHD-68901284,
  author={Okun, J{\"u}rgen G. and H{\"o}rster, Friederike and Farkas, Lilla and Feyh, Patrik and Hinz, Angela and Sauer, Sven and Hoffmann, Georg F. and Unsicker, Klaus and Mayatepek, Ertan and K{\"o}lker, Stefan},
  title={Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity},
  year={2002},
  pages={14674-14680},
  language={eng},
  issn={1083-351X},
  volume={277},
  number={17},
  note={Gesehen am 30.03.2022},
  journal={The journal of biological chemistry},
  doi={10.1074/jbc.M200997200},
}
@article{UBHD-67672315,
  author={Opladen, Thomas and Sengupta, Devjani and Moog, Ute and Fischer, Christine and B{\"u}rger, Friederike and Haas, Dorothea and Harting, Inga and Hoffmann, Georg F.},
  title={Aspartylglucosaminuria},
  subtitle={unusual neonatal presentation in qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family},
  year={2014},
  pages={36-42},
  language={eng},
  issn={1708-8283},
  volume={29},
  number={1},
  note={Gesehen am 10.09.2014},
  journal={Journal of child neurology},
  doi={10.1177/0883073812469049},
}
@article{UBHD-68973923,
  author={Opladen, Thomas and Hoffmann, Georg F. and H{\"o}rster, Friederike and Hinz, Anne-B{\"a}rbel and Neidhardt, Katharina and Klein, Christine and Wolf, Nicole},
  title={Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia},
  year={2011},
  pages={157-161},
  language={eng},
  issn={1531-8257},
  volume={26},
  number={1 vom: Jan.},
  note={First published online: 03 September 2010 ; Gesehen am 13.10.2022},
  journal={Movement disorders},
  doi={10.1002/mds.23329},
}
@article{UBHD-68639785,
  author={Opladen, Thomas and López-Laso, Eduardo and Cortès-Saladelafont, Elisenda and Pearson, Toni S. and Sivri, H. Serap and Yildiz, Yilmaz and Assmann, Birgit and Kurian, Manju A. and Leuzzi, Vincenzo and Heales, Simon and Pope, Simon and Porta, Francesco and García-Cazorla, Angeles and Honzík, Tomáš and Pons, Roser and Regal, Luc and Goez, Helly and Artuch, Rafael and Hoffmann, Georg F. and Horvath, Gabriella and Th{\"o}ny, Beat and Scholl-B{\"u}rgi, Sabine and Burlina, Alberto and Verbeek, Marcel M. and Mastrangelo, Mario and Friedman, Jennifer and Wassenberg, Tessa and Jeltsch, Kathrin and Kulhánek, Jan and Kuseyri H{\"u}bschmann, Oya},
  title={Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies},
  year={2020},
  pages={1-30},
  language={eng},
  issn={1750-1172},
  volume={15},
  number={Artikel-ID 126},
  note={Im Text ist "4" tiefgestellt ; Gesehen am 23.09.2020},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-020-01379-8},
}
@article{UBHD-68639786,
  author={Opladen, Thomas and López-Laso, Eduardo and Cortès-Saladelafont, Elisenda and Pearson, Toni S. and Sivri, H. Serap and Yildiz, Yilmaz and Assmann, Birgit and Kurian, Manju A. and Leuzzi, Vincenzo and Heales, Simon and Pope, Simon and Porta, Francesco and García-Cazorla, Angeles and Honzík, Tomáš and Pons, Roser and Regal, Luc and Goez, Helly and Artuch, Rafael and Hoffmann, Georg F. and Horvath, Gabriella and Th{\"o}ny, Beat and Scholl-B{\"u}rgi, Sabine and Burlina, Alberto and Verbeek, Marcel M. and Mastrangelo, Mario and Friedman, Jennifer and Wassenberg, Tessa and Jeltsch, Kathrin and Kulhánek, Jan and Kuseyri H{\"u}bschmann, Oya},
  title={Correction to},
  subtitle={Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies},
  year={2020},
  pages={1-5},
  language={eng},
  issn={1750-1172},
  volume={15},
  number={Artikel-ID 202},
  note={Gesehen am 23.09.2020},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-020-01464-y},
}
@article{UBHD-68258268,
  author={Opladen, Thomas and Hoffmann, Georg F. and Blau, Nenad},
  title={An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia},
  year={2012},
  pages={963-973},
  language={eng},
  issn={1573-2665},
  volume={35},
  number={6},
  note={Gesehen am 06.06.2018},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-012-9506-x},
}
@article{UBHD-69065521,
  author={Opladen, Thomas and Brennenstuhl, Heiko and Kuseyri H{\"u}bschmann, Oya and Call, Debora and Green, Kim and Schara, Ulrike and Rascher, Wolfgang and H{\"o}vel, Annegret and Assmann, Birgit and K{\"o}lker, Stefan and Westhoff, Jens and Walter, Magdalena and Ziegler, Andreas and Hoffmann, Georg F. and Kiening, Karl},
  title={Die intrazerebrale Gentherapie des Aromatischen-L-Aminos{\"a}ure-Decarboxylase-Mangels mit Eladocagene exuparvovec},
  year={2021},
  pages={738-747},
  language={ger},
  issn={1433-0474},
  volume={169},
  number={8},
  note={Gesehen am 14.04.2023},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-021-01232-7},
  url={https://doi.org/10.1007/s00112-021-01232-7},
  library={UB},
}
@article{UBHD-68614286,
  author={Opladen, Thomas and Lindner, Martin and Das, Anibh M. and Marquardt, Thorsten and Khan, Aneal and Emre, Sukru H. and Burton, Barbara K. and Barshop, Bruce A. and B{\"o}hm, Thea and Meyburg, Jochen and Zangerl, Kathrin and Mayorandan, Sebene and Burgard, Peter and D{\"u}rr, Ulrich H. N. and Rosenkranz, Bernd and Rennecke, J{\"o}rg and Derbinski, Jens and Yudkoff, Marc and Hoffmann, Georg F.},
  title={In vivo monitoring of urea cycle activity with 13C-acetate as a tracer of ureagenesis},
  year={2016},
  pages={19-26},
  language={eng},
  issn={1096-7206},
  volume={117},
  number={1},
  note={Published online 2015 ; Im Titel ist die Zahl "13" hochgestellt ; Gesehen am 07.07.2020},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2015.11.007},
}
@article{UBHD-69086233,
  author={Opladen, Thomas and Okun, J{\"u}rgen G. and Burgard, Peter and Blau, Nenad and Hoffmann, Georg F.},
  title={Phenylalanine loading in pediatric patients with dopa-responsive dystonia},
  subtitle={revised test protocol and pediatric cutoff values},
  year={2010},
  pages={697-703},
  language={eng},
  issn={1573-2665},
  volume={33},
  number={6 vom: Dez.},
  note={Gesehen am 16.06.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-010-9164-9},
}
@article{UBHD-68810784,
  author={Opladen, Thomas and Hoffmann, Georg F. and K{\"u}hn, Andrea and Blau, Nenad},
  title={Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia},
  year={2013},
  pages={195-197},
  language={eng},
  issn={1096-7206},
  volume={108},
  number={3},
  note={Gesehen am 09.12.2021},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2013.01.001},
}
@article{UBHD-68973950,
  author={Orth, Matthias and Rost, Imma and Hoffmann, Georg F. and Klein, Hanns-Georg},
  title={Praktische Umsetzung des Gendiagnostikgesetzes (GenDG) in der Laboratoriumsmedizin, dem humangenetischen Laboratorium und der humangenetischen Beratung},
  year={2011},
  pages={243-253},
  language={ger},
  issn={1439-0477},
  volume={35},
  number={5},
  note={Gesehen am 13.10.2022},
  journal={Laboratoriumsmedizin},
  doi={10.1515/JLM.2011.045},
}
@book{UBHD-67641934,
  editor={Hoffmann, Georg F.},
  title={P{\"a}diatrie},
  subtitle={Grundlagen und Praxis; ... 447 Tabellen},
  edition={4., vollst. {\"u}berarb. Aufl.},
  publisher={Springer},
  address={Berlin ; Heidelberg},
  year={20XX-},
  language={ger},
  isbn={978-3-642-41865-5 and 3-642-41865-1},
  keywords={Kind / Jugend / Krankheit ; P{\"a}diatrie / Jugendmedizin ; P{\"a}diatrie ; Kinderkrankheit},
  library={UB ; UW [Signatur: bestellt]},
}
@book{UBHD-68379436,
  editor={Hoffmann, Georg F. and Lentze, Michael J. and Spranger, J{\"u}rgen and Zepp, Fred},
  title={P{\"a}diatrie},
  subtitle={Grundlagen und Praxis},
  edition={4. Aufl.},
  publisher={Springer},
  address={Berlin, Heidelberg},
  year={2014},
  pages={Online-Ressource (CXII, 2289 S.)},
  language={ger},
  isbn={978-3-642-41866-2},
  doi={10.1007/978-3-642-41866-2},
  keywords={Kind / Jugend / Krankheit ; P{\"a}diatrie / Jugendmedizin ; P{\"a}diatrie ; Kinderkrankheit},
  url={http://dx.doi.org/10.1007/978-3-642-41866-2},
  library={UB ; UW},
}
@book{UBHD-68556662,
  editor={Hoffmann, Georg F. and Lentze, Michael J. and Spranger, J{\"u}rgen and Zepp, Fred and Berner, Reinhard},
  organization={Springer-Verlag GmbH},
  title={P{\"a}diatrie},
  subtitle={Grundlagen und Praxis},
  edition={5., vollst{\"a}ndig {\"u}berarbeitete Auflage},
  publisher={Springer},
  address={Berlin ; [Heidelberg]},
  year={[2020]},
  language={ger},
  isbn={978-3-662-60299-7 and 978-3-662-60306-2 and 3-662-60306-3},
  series={Springer Reference Medizin},
  library={UB ; UW [Signatur: bestellt]},
}
@article{UBHD-68210743,
  author={Pan, Yi and Shen, Nan and Jung-Klawitter, Sabine and Betzen, Christian and Hoffmann, Georg F. and Blau, Nenad},
  title={CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model},
  year={2016},
  pages={7 S.},
  language={eng},
  issn={2045-2322},
  volume={6(2016) Article number: 35794},
  number={7 Seiten},
  note={Gesehen am 17.01.2018},
  journal={Scientific reports},
  doi={10.1038/srep35794},
}
@article{UBHD-68337463,
  author={Patry, Christian and Kranig, Simon A. and Rafat, Neysan and Schaible, Thomas and T{\"o}nshoff, Burkhard and Hoffmann, Georg F. and Ries, Markus},
  title={Cross-sectional analysis on publication status and age representation of clinical studies addressing mechanical ventilation and ventilator-induced lung injury in infants and children},
  year={2018},
  pages={11 S.},
  language={eng},
  issn={2044-6055},
  volume={8},
  note={Gesehen am 07.12.2018},
  journal={BMJ open},
  doi={10.1136/bmjopen-2018-023524},
  url={http://dx.doi.org/10.1136/bmjopen-2018-023524},
  library={UB},
}
@article{UBHD-68490174,
  author={Patry, Christian and Betzen, Christian and Fichtner, Alexander and Westhoff, Jens and Fleming, Thomas and Eckstein, Volker and Bruckner, Thomas and Hoffmann, Georg F. and T{\"o}nshoff, Burkhard and Rafat, Neysan},
  title={Endothelial progenitor cells accelerate endothelial regeneration in an in vitro model of Shigatoxin-2a-induced injury via soluble growth factors},
  year={2018},
  pages={F861-F869},
  language={eng},
  issn={1522-1466},
  volume={315},
  number={4},
  note={Gesehen am 18.02.2020},
  journal={American journal of physiology},
  doi={10.1152/ajprenal.00633.2017},
}
@book{UBHD-67428179,
  editor={Sarafoglou, Kyriakie and Hoffmann, Georg F.},
  title={Pediatric endocrinology and inborn errors of metabolism},
  publisher={McGraw-Hill Medical},
  address={New York, NY [u.a.]},
  year={2009},
  pages={XIII, 949 S.},
  language={eng},
  isbn={978-0-07-143915-2 and 0-07-143915-3},
  note={Formerly CIP Uk. - Includes bibliographical references and index},
}
@article{UBHD-68978834,
  author={Peters, Verena and Jansen, Erwin E. W. and Jakobs, Cornelis and Riedl, Eva and Janssen, Bart and Yard, Benito A. and Wedel, Johannes and Hoffmann, Georg F. and Zschocke, Johannes and Gotthardt, Daniel and Fischer, Christine and K{\"o}ppel, Hannes},
  title={Anserine inhibits carnosine degradation but in human serum carnosinase (CN1) is not correlated with histidine dipeptide concentration},
  year={2011},
  pages={263-267},
  language={eng},
  issn={1873-3492},
  volume={412},
  number={3-4},
  note={Available online 21 October 2010 ; Gesehen am 26.10.2022},
  journal={Clinica chimica acta},
  doi={10.1016/j.cca.2010.10.016},
}
@article{UBHD-68612845,
  author={Peters, Verena and Lanthaler, Barbara and Amberger, Albert and Fleming, Thomas and Forsberg, Elisabete and Hecker, Markus and Wagner, Andreas H. and Yue, Wyatt W. and Hoffmann, Georg F. and Nawroth, Peter Paul and Zschocke, Johannes and Schmitt, Claus P.},
  title={Carnosine metabolism in diabetes is altered by reactive metabolites},
  year={2015},
  pages={2367-2376},
  language={eng},
  issn={1438-2199},
  volume={47},
  number={11},
  note={Gesehen am 02.07.2020},
  journal={Amino acids},
  doi={10.1007/s00726-015-2024-z},
}
@article{UBHD-68226610,
  author={Peters, Verena and Kebbewar, Moustafa and Janssen, Bart and Hoffmann, Georg F. and Schmitt, Claus P. and Schaefer, Franz and W{\"u}hl, Elke},
  title={CNDP1 genotype and renal survival in pediatric nephropathies},
  year={2016},
  pages={827-833},
  language={eng},
  issn={2191-0251},
  volume={29},
  number={7},
  note={Gesehen am 05.03.2018},
  journal={The journal of pediatric endocrinology and metabolism},
  doi={10.1515/jpem-2015-0262},
}
@article{UBHD-68901311,
  author={Peters, Verena and Penzien, J. M. and Reiter, G. and K{\"o}rner, C. and Hackler, R. and Assmann, Birgit and Fang-Hoffmann, Junmin and Schaefer, J. R. and Hoffmann, Georg F. and Heidemann, P. H.},
  title={Congenital disorder of Glycosylation IId (CDG-IId) - a new entity},
  subtitle={clinical presentation with Dandy-Walker malformation and myopathy},
  year={2002},
  pages={27-32},
  language={eng},
  issn={1439-1899},
  volume={33},
  number={01},
  note={Gesehen am 30.03.2022},
  journal={Neuropediatrics},
  doi={10.1055/s-2002-23597},
}
@article{UBHD-68675527,
  author={Peters, Verena and Fang-Hoffmann, Junmin and Hoffmann, Georg F.},
  title={Genetisch bedingte Erkrankungen der Glykoproteinbiosynthese},
  year={2003},
  pages={156-163},
  language={ger},
  issn={1619-3873},
  volume={2},
  journal={Neurop{\"a}diatrie in Klinik und Praxis},
}
@article{UBHD-68647360,
  author={Peters, Verena and Bonham, James R. and Hoffmann, Georg F. and Scott, Camilla and Langhans, Claus-Dieter},
  title={Qualitative urinary organic acid analysis},
  subtitle={10 years of quality assurance},
  year={2016},
  pages={683-687},
  language={eng},
  issn={1573-2665},
  volume={39},
  number={5},
  note={Published online: 4 May 2016 ; Gesehen am 12.10.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-016-9941-1},
}
@article{UBHD-69070066,
  author={Peters, Verena and Kebbewar, Moustafa and Jansen, Erwin W. and Jakobs, Cornelis and Riedl, Eva and Koeppel, Hannes and Frey, Dirk and Adelmann, Katja and Klingbeil, Kristina and Mack, Matthias and Hoffmann, Georg F. and Janssen, Bart and Zschocke, Johannes and Yard, Benito A.},
  title={Relevance of allosteric conformations and homocarnosine concentration on carnosinase activity},
  year={2010},
  pages={1607-1615},
  language={eng},
  issn={1438-2199},
  volume={38},
  number={5},
  note={Online ver{\"o}ffentlicht: 14. November 2009 ; Gesehen am 28.04.2023},
  journal={Amino acids},
  doi={10.1007/s00726-009-0367-z},
}
@article{UBHD-68869098,
  author={Pfeil, Johannes and Listl, Stefan and Hoffmann, Georg F. and K{\"o}lker, Stefan and Lindner, Martin and Burgard, Peter},
  title={Newborn screening by tandem mass spectrometry for glutaric aciduria type 1},
  subtitle={a cost-effectiveness analysis},
  year={2013},
  pages={1-11},
  language={eng},
  issn={1750-1172},
  volume={8},
  number={Artikel-ID 167},
  note={Gesehen am 20.01.2022},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/1750-1172-8-167},
}
@book{UBHD-67987947,
  author={Pfeil, Johannes and Listl, Stefan and Hoffmann, Georg F. and K{\"o}lker, Stefan and Lindner, Martin and Burgard, Peter},
  title={Newborn screening by tandem mass spectrometry for glutaric aciduria type 1},
  subtitle={a cost-effectiveness analysis},
  publisher={BioMed Central},
  address={London},
  year={2016},
  pages={1 Online-Ressource (11 Seiten)},
  language={eng},
  note={Aus: Orphanet Journal of Rare Diseases, 8 (2013), Nr. 167. pp. 1-11. ISSN 1750-1172},
  url={http://www.ub.uni-heidelberg.de/archiv/20746},
  library={UB},
}
@article{UBHD-68426708,
  author={Pilotto, Andrea and Blau, Nenad and Leks, Edytha and Schulte, Claudia and Deuschl, Christian and Zipser, Carl and Piel, David and Freisinger, Peter and Gramer, Gwendolyn and K{\"o}lker, Stefan and Haas, Dorothea and Burgard, Peter and Nawroth, Peter and Hoffmann, Georg F. and Scheffler, Klaus and Berg, Daniela and Trefz, Friedrich K.},
  title={Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria},
  year={2019},
  pages={398-406},
  language={eng},
  issn={1573-2665},
  volume={42},
  number={3},
  note={Gesehen am 04.09.2019},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12049},
}
@article{UBHD-68772040,
  author={Pilotto, Andrea and Zipser, Carl M. and Leks, Edytha and Haas, Dorothea and Gramer, Gwendolyn and Freisinger, Peter and Schaeffer, Eva and Liepelt-Scarfone, Inga and Brockmann, Kathrin and Maetzler, Walter and Schulte, Claudia and Deuschle, Christian and Hauser, Ann Kathrin and Hoffmann, Georg F. and Scheffler, Klaus and Spronsen, Francjan J. van and Padovani, Alessandro and Trefz, Friedrich K. and Berg, Daniela},
  title={Phenylalanine effects on brain function in adult Phenylketonuria},
  year={2021},
  pages={e399-e411},
  language={eng},
  issn={1526-632X},
  volume={96},
  number={3},
  note={Gesehen am 19.08.2021 ; First published: October 22, 2020},
  journal={Neurology},
  doi={10.1212/WNL.0000000000011088},
}
@article{UBHD-68634347,
  author={Poisa-Beiro, Laura and Thoma, Judith and Landry, Jonathan and Sauer, Sven and Yamamoto, Akihisa and Eckstein, Volker and Romanov, Natalie and Raffel, Simon and Hoffmann, Georg F. and Bork, Peer and Benes, Vladimir and Gavin, Anne-Claude and Tanaka, Motomu and Ho, Anthony Dick},
  title={Glycogen accumulation, central carbon metabolism, and aging of hematopoietic stem and progenitor cells},
  year={2020},
  language={eng},
  issn={2045-2322},
  volume={10(2020) Artikel-Nummer 11597},
  number={11 Seiten},
  note={Gesehen am 03.09.2020},
  journal={Scientific reports},
  doi={10.1038/s41598-020-68396-2},
}
@article{UBHD-69154120,
  author={Posset, Roland and Zielonka, Matthias and Gleich, Florian and Garbade, Sven and Hoffmann, Georg F. and K{\"o}lker, Stefan},
  title={The challenge of understanding and predicting phenotypic diversity in urea cycle disorders},
  year={2023},
  pages={1007-1016},
  language={eng},
  issn={1573-2665},
  volume={46},
  number={6 vom: Nov.},
  note={Online ver{\"o}ffentlicht: 13. September 2023 ; Gesehen am 18.12.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12678},
}
@article{UBHD-68445030,
  author={Posset, Roland and Baumgartner, Matthias R. and Zielonka, Matthias and Hoffmann, Georg F. and Burgard, Peter and K{\"o}lker, Stefan},
  title={Impact of diagnosis and therapy on cognitive function in urea cycle disorders},
  year={2019},
  pages={116-128},
  language={eng},
  issn={1531-8249},
  volume={86},
  number={1},
  note={Gesehen am 24.10.2019},
  journal={Annals of neurology},
  doi={10.1002/ana.25492},
}
@article{UBHD-69245782,
  author={Posset, Roland and Garbade, Sven and Gleich, Florian and Nagamani, Sandesh C. S. and Gropman, Andrea L. and Epp, Friederike and Ramdhouni, Nesrine and Druck, Ann-Catrin and Hoffmann, Georg F. and K{\"o}lker, Stefan and Zielonka, Matthias and Schulze, Andreas and García-Cazorla, Angeles and Ficicioglu, Can and Harding, Cary O. and Lam, Christina and Coughlin, Curtis R. and Le Mons, Cynthia and Wong, Derek and Dobbelaere, Dries and Diaz, George A. and Berry, Gerard T. and Enns, Gregory M. and Wilkening, Greta and Lawrence Merritt, J. and Seminara, Jennifer and Konczal, Laura and Burrage, Lindsay C. and Breilyn, Margo and Lindner, Martin and Baumgartner, Matthias R. and Mew, Nicholas Ah. and Gallagher, Renata C. and McCandless, Shawn E. and Berry, Susan A. and Stricker, Tamar},
  title={Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders},
  year={2024},
  pages={1-9},
  language={eng},
  issn={1096-7206},
  volume={141},
  note={Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) consortia study group: Andreas Schulze, Angeles García-Cazorla, Can Ficicioglu, Cary O. Harding, Christina Lam, Curtis R. Coughlin, Cynthia Le Mons, Derek Wong, Dries Dobbelaere, George A. Diaz, Gerard T. Berry, Gregory M. Enns, Greta Wilkening, J. Lawrence Merritt, Jennifer Seminara, Laura Konczal, Lindsay C. Burrage, Margo Breilyn, Martin Lindner, Matthias R. Baumgartner, Nicholas Ah. Mew, Renata C. Gallagher, Shawn E. McCandless, Susan A. Berry, Tamar Stricker ; Gesehen am 30.07.2024},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2023.108112},
}
@article{UBHD-68657271,
  author={Posset, Roland and Garbade, Sven and Gleich, Florian and Gropman, Andrea L. and de Lonlay, Pascale and Hoffmann, Georg F. and Garcia-Cazorla, Angeles and Nagamani, Sandesh C. S. and Baumgartner, Matthias R. and Schulze, Andreas and Dobbelaere, Dries and Yudkoff, Marc and K{\"o}lker, Stefan and Zielonka, Matthias},
  title={Long-term effects of medical management on growth and weight in individuals with urea cycle disorders},
  year={2020},
  pages={13 S.},
  language={eng},
  issn={2045-2322},
  volume={10(2020},
  note={Gesehen am 04.11.2020},
  journal={Scientific reports},
  doi={10.1038/s41598-020-67496-3},
}
@article{UBHD-69239026,
  author={Posset, Roland and Garbade, Sven and Gleich, Florian and Scharré, Svenja and Okun, J{\"u}rgen G. and Gropman, Andrea L. and Nagamani, Sandesh C. S. and Druck, Ann-Catrin and Epp, Friederike and Hoffmann, Georg F. and K{\"o}lker, Stefan and Zielonka, Matthias},
  title={Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders},
  year={2024},
  pages={1-12},
  language={eng},
  issn={1530-0366},
  volume={26},
  note={Online verf{\"u}gbar: 3. Dezember 2023, Artikelversion: 13. Februar 2024 ; Gesehen am 31.07.2024},
  journal={Genetics in medicine},
  doi={10.1016/j.gim.2023.101039},
}
@article{UBHD-68696619,
  author={Posset, Roland and K{\"o}lker, Stefan and Gleich, Florian and Okun, J{\"u}rgen G. and Gropman, Andrea L. and Nagamani, Sandesh C. S. and Scharre, Svenja and Probst, Joris and Walter, Magdalena and Hoffmann, Georg F. and Garbade, Sven and Zielonka, Matthias},
  title={Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders},
  year={2020},
  pages={390-397},
  language={eng},
  issn={1096-7206},
  volume={131},
  number={4},
  note={Gesehen am 08.02.2021},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2020.10.013},
}
@article{UBHD-68447572,
  author={Posset, Roland and Garbade, Sven and Boy, Nikolas and Hoffmann, Georg F. and K{\"o}lker, Stefan and Burgard, Peter},
  title={Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders},
  subtitle={a successful strategy for clinical research of rare diseases},
  year={2019},
  pages={93-106},
  language={eng},
  issn={1573-2665},
  volume={42},
  number={1},
  note={Gesehen am 29.10.2019},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12031},
}
@article{UBHD-68034681,
  author={Posset, Roland and Opp, Silvana and V{\"o}lkl, Alfred and Mohr, Heribert and Hoffmann, Georg F. and K{\"o}lker, Stefan and Sauer, Sven and Okun, J{\"u}rgen G.},
  title={Understanding cerebral L-lysine metabolism},
  subtitle={the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type I},
  year={2015},
  pages={265-272},
  language={eng},
  issn={1573-2665},
  volume={38},
  number={2},
  note={Published online: 12 September 2014 ; Gesehen am 04.10.2016},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-014-9762-z},
}
@article{UBHD-69072539,
  author={Prasad, Asuri and Hoffmann, Georg F.},
  title={Early onset epilepsy and inherited metabolic disorders},
  subtitle={diagnosis and management},
  year={2010},
  pages={350-358},
  language={eng},
  issn={2057-0155},
  volume={37},
  number={3 vom: Mai},
  note={Elektronische Reproduktion der Druckausgabe ; Gesehen am 05.05.2023},
  journal={The journal / Canadian Neurological Sciences Federation},
  doi={10.1017/S0317167100010246},
}
@article{UBHD-68902174,
  author={Prietsch, Viola and Hoffmann, Georg F.},
  title={Diagnostik und Therapie angeborener Stoffwechselkrankheiten},
  year={2002},
  pages={62-69},
  language={ger},
  issn={1619-3873},
  volume={1},
  number={2},
  journal={Neurop{\"a}diatrie in Klinik und Praxis},
}
@article{UBHD-68675934,
  author={Prietsch, Viola and Mayatepek, Ertan and Krastel, Hermann and Haas, Dorothea and Zundel, Dorothee and Waterham, Hans R. and Wanders, Ronald J. A. and Gibson, K. Michael and Hoffmann, Georg F.},
  title={Mevalonate kinase deficiency},
  subtitle={enlarging the clinical and biochemical spectrum},
  year={2003},
  pages={258-261},
  language={eng},
  issn={1098-4275},
  volume={111},
  number={2},
  note={Gesehen am 22.12.2020},
  journal={Pediatrics},
  doi={10.1542/peds.111.2.258},
}
@article{UBHD-68902208,
  author={Prietsch, Viola and Peters, Verena and Hackler, R. and Jakobi, R. and Assmann, Birgit and Fang-Hoffmann, Junmin and K{\"o}rner, Christian and Helwig-Rolig, Angelika and Schaefer, J. R. and Hoffmann, Georg F.},
  title={A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy},
  year={2002},
  pages={126-130},
  language={eng},
  issn={1573-2665},
  volume={25},
  number={2},
  note={Gesehen am 31.03.2022},
  journal={Journal of inherited metabolic disease},
  doi={10.1023/A:1015628810892},
}
@article{UBHD-68653402,
  author={Probst, Joris and K{\"o}lker, Stefan and Okun, J{\"u}rgen G. and Kumar, Amrish and Gursky, Eduard and Posset, Roland and Hoffmann, Georg F. and Peravali, Ravindra and Zielonka, Matthias},
  title={Chronic hyperammonemia causes a hypoglutamatergic and hyperGABAergic metabolic state associated with neurobehavioral abnormalities in zebrafish larvae},
  year={2020},
  pages={12 S.},
  language={eng},
  issn={1090-2430},
  volume={331(2020) Artikel-Nummer 113330},
  number={12 Seiten},
  note={Gesehen am 23.10.2020},
  journal={Experimental neurology},
  doi={10.1016/j.expneurol.2020.113330},
}
@article{UBHD-68578695,
  author={Puusepp, Sanna and Hoffmann, Georg F. and Kotzaeridou, Urania},
  title={Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency},
  year={2018},
  pages={407-419},
  language={eng},
  issn={1476-5438},
  volume={26},
  number={3},
  note={Gesehen am 18.05.2020},
  journal={European journal of human genetics},
  doi={10.1038/s41431-017-0001-6},
}
@article{UBHD-69197815,
  author={Rascher, Wolfgang and Klingebiel, Thomas and Herting, Egbert and Hoffmann, Georg F. and Berner, Reinhard and Kr{\"a}geloh-Mann, Ingeborg and G{\"a}rtner, Jutta and Zepp, Fred and Schara, Ulrike},
  title={Arzneimittel f{\"u}r neuartige Therapien - Perspektiven, Chancen, Herausforderungen},
  year={2021},
  pages={18-28},
  language={ger and eng},
  issn={1433-0474},
  volume={169},
  number={Suppl1},
  note={Online ver{\"o}ffentlicht: 18. November 2020 ; Gesehen am 05.04.2024},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-020-01056-x},
}
@article{UBHD-69197841,
  author={Rascher, Wolfgang and Klingebiel, Thomas and Herting, Egbert and Hoffmann, Georg F. and Berner, Reinhard and Kr{\"a}geloh-Mann, Ingeborg and G{\"a}rtner, Jutta and Zepp, Fred and Schara, Ulrike},
  title={Arzneimittel f{\"u}r neuartige Therapien: Kurzfassung der Stellungnahme der Deutschen Gesellschaft f{\"u}r Kinder- und Jugendmedizin e.V. (DGKJ)},
  year={2021},
  pages={57-59},
  language={ger},
  issn={1433-0474},
  volume={169},
  number={1},
  note={Online ver{\"o}ffentlicht: 02 December 2020 ; Gesehen am 05.04.2024},
  journal={Monatsschrift Kinderheilkunde},
}
@article{UBHD-69197817,
  author={Rascher, Wolfgang and Klingebiel, Thomas and Herting, Egbert and Hoffmann, Georg F. and Berner, Reinhard and Kr{\"a}geloh-Mann, Ingeborg and G{\"a}rtner, Jutta and Zepp, Fred and Schara, Ulrike},
  title={Erratum zu: Arzneimittel f{\"u}r neuartige Therapien - Perspektiven, Chancen, Herausforderungen},
  subtitle={Stellungnahme der Deutschen Gesellschaft f{\"u}r Kinder- und Jugendmedizin e.V. (DGKJ)},
  year={2021},
  pages={60-61},
  language={ger},
  issn={1433-0474},
  volume={169},
  number={1},
  note={Gesehen am 05.04.2024 ; Online ver{\"o}ffentlicht: 18. November 2020 ; Gesehen am 05.04.2024},
  journal={Monatsschrift Kinderheilkunde},
}
@article{UBHD-68239846,
  author={Rath, Matthias and Korenke, Christoph and Hoffmann, Georg F.},
  title={Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease},
  year={2017},
  pages={296-297},
  language={eng},
  issn={1878-5883},
  volume={379},
  note={Gesehen am 05.04.2018},
  journal={Journal of the neurological sciences},
  doi={10.1016/j.jns.2017.06.034},
}
@article{UBHD-69074271,
  author={Rauschenberger, Katharina and Sch{\"o}ler, Katja and Sass, J{\"o}rn Oliver and Sauer, Sven and Djuric, Zdenka and Rumig, Cordula and Wolf, Nicole I. and Okun, J{\"u}rgen G. and K{\"o}lker, Stefan and Schwarz, Heinz and Fischer, Christine and Grziwa, Beate and Runz, Heiko and N{\"u}mann, Astrid and Shafqat, Naeem and Kavanagh, Kathryn L. and H{\"a}mmerling, G{\"u}nter J. and Wanders, Ronald J. A. and Shield, Julian P. H. and Wendel, Udo and Stern, David and Nawroth, Peter Paul and Hoffmann, Georg F. and Bartram, Claus R. and Arnold, Bernd and Bierhaus, Angelika and Oppermann, Udo and Steinbeisser, Herbert and Zschocke, Johannes},
  title={A non-enzymatic function of 17β-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival},
  year={2010},
  pages={51-62},
  language={eng},
  issn={1757-4684},
  volume={2},
  number={2 vom: Feb.},
  note={Gesehen am 10.05.2023},
  journal={EMBO molecular medicine},
  doi={10.1002/emmm.200900055},
}
@article{UBHD-68990245,
  author={Reischl-Hajiabadi, Anna Theresa and Garbade, Sven and Feyh, Patrik and Weiss, Karl Heinz and M{\"u}tze, Ulrike and K{\"o}lker, Stefan and Hoffmann, Georg F. and Gramer, Gwendolyn},
  title={Maternal vitamin B12 deficiency detected by newborn screening},
  subtitle={evaluation of causes and characteristics},
  year={2022},
  pages={1-17},
  language={eng},
  issn={2072-6643},
  volume={14},
  note={Im Titel erscheint die Ziffer 12 tiefgestellt ; Gesehen am 29.11.2022},
  journal={Nutrients},
  doi={10.3390/nu14183767},
}
@article{UBHD-69267816,
  author={Reischl-Hajiabadi, Anna Theresa and Okun, J{\"u}rgen G. and Kohlm{\"u}ller, Dirk and Manukjan, Georgi and Hegert, Sebastian and Durner, J{\"u}rgen and Schuhmann, Elfriede and H{\"o}rster, Friederike and M{\"u}tze, Ulrike and Feyh, Patrik and Hoffmann, Georg F. and R{\"o}schinger, Wulf and Janzen, Nils and Opladen, Thomas},
  title={Newborn screening for aromatic l-amino acid decarboxylase deficiency},
  subtitle={strategies, results, and implication for prevalence calculations},
  year={2024},
  pages={108148-1-108148-7},
  language={eng},
  issn={1096-7206},
  volume={141},
  note={Gesehen am 28.10.2024},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2024.108148},
}
@article{UBHD-69227553,
  author={Reischl-Hajiabadi, Anna Theresa and Schnabel-Besson, Elena and Gleich, Florian and Mengler, Katharina and Lindner, Martin and Burgard, Peter and Posset, Roland and Lommer-Steinhoff, Svenja and Gr{\"u}nert, Sarah and Thimm, Eva and Freisinger, Peter and Hennermann, Julia B. and Kr{\"a}mer, Johannes and Gramer, Gwendolyn and Lenz, Dominic and Christ, Stine and H{\"o}rster, Friederike and Hoffmann, Georg F. and Garbade, Sven and K{\"o}lker, Stefan and M{\"u}tze, Ulrike},
  title={Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias},
  year={2024},
  pages={674-689},
  language={eng},
  issn={1573-2665},
  volume={47},
  number={4 vom: Juli},
  note={Erstmals ver{\"o}ffentlicht: 02 April 2024 ; Gesehen am 01.07.2024},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12731},
}
@article{UBHD-69007727,
  author={Rossmann, Julia and Christ, Stine and Richter, Sylvia and Garbade, Sven and Hoffmann, Georg F. and Opladen, Thomas and Okun, J{\"u}rgen G.},
  title={Validated UPLC-MS/MS method for the analysis of vitamin B6 pyridoxal 5́-phosphate, pyridoxal, pyridoxine, pyridoxamine, and pyridoxic acid in human cerebrospinal fluid},
  year={2022},
  pages={1-9},
  language={eng},
  issn={1873-376X},
  volume={1212},
  number={Artikel-ID 123503},
  note={Gesehen am 18.01.2023},
  journal={Journal of chromatography},
  doi={10.1016/j.jchromb.2022.123503},
}
@article{UBHD-68866808,
  author={Saffari, Afshin and Cannet, Claire and Blaschek, Astrid and Hahn, Andreas and Hoffmann, Georg F. and Johannsen, Jessika and Kirsten, Romy and Kockaya, Musa and K{\"o}lker, Stefan and M{\"u}ller-Felber, Wolfgang and Roos, Andreas and Sch{\"a}fer, Hartmut and Schara, Ulrike and Spraul, Manfred and Trefz, Friedrich K. and Vill, Katharina and Wick, Wolfgang and Weiler, Markus and Okun, J{\"u}rgen G. and Ziegler, Andreas},
  title={1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy},
  year={2021},
  pages={1-16},
  language={eng},
  issn={1750-1172},
  volume={16},
  number={Artikel-ID 441},
  note={Im Text ist "1" hochgestellt ; Gesehen am 15.01.2022},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-021-02075-x},
  url={https://doi.org/10.1186/s13023-021-02075-x},
  library={UB},
}
@article{UBHD-68716876,
  author={Saffari, Afshin and Ziegler, Andreas and Merkenschlager, Andreas and Kr{\"u}ger, Stefan and K{\"o}lker, Stefan and Hoffmann, Georg F. and Syrbe, Steffen},
  title={Axenfeld-Rieger anomaly and neuropsychiatric problems},
  subtitle={more than meets the eye},
  year={2020},
  pages={192-197},
  language={eng},
  issn={1439-1899},
  volume={51},
  number={03},
  note={Gesehen am 25.03.2021},
  journal={Neuropediatrics},
  doi={10.1055/s-0039-3402037},
}
@article{UBHD-68442713,
  author={Saffari, Afshin and Weiler, Markus and Hoffmann, Georg F. and Ziegler, Andreas},
  title={Gentherapien f{\"u}r neuromuskul{\"a}re Erkrankungen},
  year={2019},
  pages={809-816},
  language={ger},
  issn={1433-0407},
  volume={90},
  number={8},
  note={Gesehen am 21.10.2019},
  journal={Der Nervenarzt},
  doi={10.1007/s00115-019-0761-z},
}
@article{UBHD-69346284,
  author={Saffari, Afshin and Niesert, Moritz and Cannet, Claire and Blaschek, Astrid and Hahn, Andreas and Johannsen, Jessika and Kockaya, Musa and K{\"o}lbel, Heike and Hoffmann, Georg F. and Claus, Peter and K{\"o}lker, Stefan and M{\"u}ller-Felber, Wolfgang and Roos, Andreas and Schara-Schmidt, Ulrike and Trefz, Friedrich K. and Vill, Katharina and Wick, Wolfgang and Weiler, Markus and Okun, J{\"u}rgen G. and Ziegler, Andreas},
  title={Identification of biochemical determinants for diagnosis and prediction of severity in 5q spinal muscular atrophy using 1H-nuclear magnetic resonance metabolic profiling in patient-derived biofluids},
  year={2024},
  pages={1-19},
  language={eng},
  issn={1422-0067 and 1661-6596},
  volume={25},
  note={Die Ziffer 1 ist im Titel hochgestellt ; Gesehen am 20.05.2025},
  journal={International journal of molecular sciences},
  doi={10.3390/ijms252212123},
}
@article{UBHD-68259938,
  author={Saffari, Afshin and K{\"o}lker, Stefan and Hoffmann, Georg F. and Ebrahimi-Fakhari, Darius},
  title={Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases},
  year={2017},
  pages={631-640},
  language={eng},
  issn={1573-2665},
  volume={40},
  number={5},
  note={First online: 05 May 2017 ; Gesehen am 11.06.2018},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-017-0048-0},
}
@article{UBHD-68389614,
  author={Saffari, Afshin and K{\"o}lker, Stefan and Hoffmann, Georg F. and Weiler, Markus and Ziegler, Andreas},
  title={Novel challenges in spinal muscular atrophy},
  subtitle={How to screen and whom to treat?},
  year={2019},
  pages={197-205},
  language={eng},
  issn={2328-9503},
  volume={6},
  number={1},
  note={First published: 13 November 2018 ; Gesehen am 14.05.2019},
  journal={Annals of Clinical and Translational Neurology},
  doi={10.1002/acn3.689},
}
@article{UBHD-68870948,
  author={Saffari, Afshin and Schr{\"o}ter, Julian and Garbade, Sven and Alecu, Julian E. and Ebrahimi-Fakhari, Darius and Hoffmann, Georg F. and K{\"o}lker, Stefan and Ries, Markus and Syrbe, Steffen},
  title={Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy},
  subtitle={a systematic cross-sectional analysis of 160 published cases},
  year={2022},
  pages={1-13},
  language={eng},
  issn={1554-8635},
  volume={18},
  number={7},
  note={Online ver{\"o}ffentlicht: 24. November 2021 ; Gesehen am 11.10.2022},
  journal={Autophagy},
  doi={10.1080/15548627.2021.1990671},
}
@article{UBHD-68431902,
  author={Saffari, Afshin and Br{\"o}sse, Ines and Tilburg, Cornelis M. van and Hoffmann, Georg F. and K{\"o}lker, Stefan and Witt, Olaf and Milde, Till and Ziegler, Andreas and Syrbe, Steffen},
  title={Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study},
  year={2019},
  pages={1-13},
  language={eng},
  issn={1750-1172},
  volume={14},
  number={Artikel-ID 96},
  note={Gesehen am 20.09.2019},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-019-1077-6},
  url={https://doi.org/10.1186/s13023-019-1077-6},
  library={UB},
}
@book{UBHD-68412598,
  author={Saffari, Afshin and Br{\"o}sse, Ines and Tilburg, Cornelis M. van and Hoffmann, Georg F. and K{\"o}lker, Stefan and Witt, Olaf and Milde, Till and Ziegler, Andreas and Syrbe, Steffen},
  title={Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age},
  subtitle={a multicenter retrospective study},
  publisher={BioMed Central},
  address={London},
  year={2019},
  pages={1 Online-Ressource},
  language={eng},
  note={In: Orphanet journal of rare diseases, 14 (2019), Nr. 96. pp. 1-13. ISSN 1750-1172},
  url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-264004},
  library={UB},
}
@article{UBHD-69243309,
  author={Sandmann, Christoph and Syrbe, Steffen and Hebe, Joachim and Kreft, Jannis and Stark, Sebastian and Milde, Till and V{\"o}lkers, Mirko and Hoffmann, Georg F. and Gorenflo, Matthias and Kovacevic, Alexander},
  title={Long-term use of everolimus for refractory arrhythmia in a child with tuberous sclerosis complex},
  year={2024},
  pages={1-6},
  language={eng},
  issn={1552-4833},
  volume={194},
  note={Online ver{\"o}ffentlicht: 21. Dezember 2023 ; Gesehen am 14.08.2024},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.a.63508},
  keywords={Tuber{\"o}se Hirnsklerose},
}
@article{UBHD-68970956,
  author={Sauer, Sven and Merle, Uta and Opp, Silvana and Haas, Dorothea and Hoffmann, Georg F. and Stremmel, Wolfgang and Okun, J{\"u}rgen G.},
  title={Severe dysfunction of respiratory chain and cholesterol metabolism in Atp7b−/− mice as a model for Wilson disease},
  year={2011},
  pages={1607-1615},
  language={eng},
  issn={1879-260X},
  volume={1812},
  number={12},
  note={Gesehen am 06.10.2022 ; Im Titel ist der Ausdruck "-/-" hochgestellt},
  journal={Biochimica et biophysica acta},
  doi={10.1016/j.bbadis.2011.08.011},
}
@article{UBHD-68111665,
  author={Sauer, Sven and Okun, J{\"u}rgen G. and Fricker, Gert and Mahringer, Anne and M{\"u}ller, Ines and Hoffmann, Georg F. and H{\"o}rster, Friederike and K{\"o}lker, Stefan},
  title={Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood–brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency},
  year={2006},
  pages={899-910},
  language={eng},
  issn={1471-4159},
  volume={97},
  number={3},
  note={Gesehen am 20.04.2017},
  journal={Journal of neurochemistry},
  doi={10.1111/j.1471-4159.2006.03813.x},
}
@article{UBHD-68970974,
  author={Sauer, Sven and Opp, Silvana and Hoffmann, Georg F. and Koeller, David M. and Okun, J{\"u}rgen G. and K{\"o}lker, Stefan},
  title={Therapeutic modulation of cerebral l-lysine metabolism in a mouse model for glutaric aciduria type I},
  year={2011},
  pages={157-170},
  language={eng},
  issn={1460-2156},
  volume={134},
  number={1},
  note={Advance Access publication October 4, 2010 ; Gesehen am 06.10.2022},
  journal={Brain},
  doi={10.1093/brain/awq269},
}
@article{UBHD-68936210,
  author={Schmoch, Thomas and Westhoff, Jens and Decker, Sebastian and Skarabis, Annabell and Hoffmann, Georg F. and Dohna-Schwake, Christian and Felderhoff-M{\"u}ser, Ursula and Skolik, Caroline and Feißt, Manuel and Klose, Christina and Bruckner, Thomas and Luntz, Steffen P. and Weigand, Markus A. and Sohn, Kai and Brenner, Thorsten},
  title={Next-generation sequencing diagnostics of bacteremia in pediatric sepsis},
  year={2021},
  pages={1-10},
  language={eng},
  issn={1536-5964},
  volume={100},
  note={Gesehen am 30.06.2022},
  journal={Medicine},
  doi={10.1097/MD.0000000000026403},
}
@article{UBHD-69124833,
  author={Schnabel-Besson, Elena and K{\"o}lker, Stefan and Gleich, Florian and Feyh, Patrik and H{\"o}rster, Friederike and Haas, Dorothea and Fang-Hoffmann, Junmin and Morath, Marina and Gramer, Gwendolyn and R{\"o}schinger, Wulf and Garbade, Sven and Hoffmann, Georg F. and Okun, J{\"u}rgen G. and M{\"u}tze, Ulrike},
  title={Combined newborn screening allows comprehensive identification also of attenuated phenotypes for methylmalonic acidurias and homocystinuria},
  year={2023},
  pages={1-15},
  language={eng},
  issn={2072-6643},
  volume={15},
  note={Ver{\"o}ffentlicht: 28. Juli 2023 ; Gesehen am 27.09.2023},
  journal={Nutrients},
  doi={10.3390/nu15153355},
}
@article{UBHD-69064164,
  author={Schr{\"o}ter, Julian and Dattner, Tal and H{\"u}llein, Jennifer and Jayme, Alejandra and Heuveline, Vincent and Hoffmann, Georg F. and K{\"o}lker, Stefan and Lenz, Dominic and Opladen, Thomas and Popp, Bernt and Schaaf, Christian P. and Staufner, Christian and Syrbe, Steffen and Uhrig, Sebastian and H{\"u}bschmann, Daniel and Brennenstuhl, Heiko},
  title={aRgus: multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment},
  year={2023},
  pages={1077-1083},
  language={eng},
  issn={2001-0370},
  volume={21},
  note={Gesehen am 11.04.2023},
  journal={Computational and structural biotechnology journal},
  doi={10.1016/j.csbj.2023.01.027},
}
@article{UBHD-69087216,
  author={Schr{\"o}ter, Julian and Popp, Bernt and Brennenstuhl, Heiko and Driedger, Jan Henje and Jestaedt, Leonie and Arélin, Maria and Gr{\"a}fe, Daniel and Neuser, Sonja Anna and Parker, Michael and Lemke, Johannes and Hoffmann, Georg F. and K{\"o}lker, Stefan and Harting, Inga and Syrbe, Steffen},
  title={Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies},
  year={2022},
  pages={298-306},
  language={eng},
  issn={1476-5438},
  volume={30},
  number={3},
  note={Gesehen am 19.06.2023},
  journal={European journal of human genetics},
  doi={10.1038/s41431-021-01027-0},
  url={https://doi.org/10.1038/s41431-021-01027-0},
  library={UB},
}
@article{UBHD-68740526,
  author={Schr{\"o}ter, Julian and Driedger, Jan Henje and Garbade, Sven and Hoffmann, Georg F. and K{\"o}lker, Stefan and Ries, Markus and Syrbe, Steffen},
  title={Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies},
  year={2021},
  pages={516-523},
  language={eng},
  issn={1530-0366},
  volume={23},
  number={3},
  note={Published: 21 October 2020 ; Gesehen am 25.05.2021},
  journal={Genetics in medicine},
  doi={10.1038/s41436-020-01001-z},
  url={https://doi.org/10.1038/s41436-020-01001-z},
  library={UB},
}
@article{UBHD-69101725,
  author={Schr{\"o}ter, Julian and Syring, Hanna and G{\"o}hring, Gudrun and K{\"o}lker, Stefan and Opladen, Thomas and Hoffmann, Georg F. and Syrbe, Steffen and Jung-Klawitter, Sabine},
  title={Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy},
  year={2022},
  pages={1-5},
  language={eng},
  issn={1876-7753},
  volume={64(2022) vom: Okt.},
  number={Artikel-ID 102879},
  note={Gesehen am 27.07.2023},
  journal={Stem cell research},
  doi={10.1016/j.scr.2022.102879},
  url={https://doi.org/10.1016/j.scr.2022.102879},
  library={UB},
}
@article{UBHD-68976684,
  author={Schr{\"o}ter, Julian and Syring, Hanna and G{\"o}ring, Gudrun and K{\"o}lker, Stefan and Opladen, Thomas and Hoffmann, Georg F. and Syrbe, Steffen and Jung-Klawitter, Sabine},
  title={Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy},
  year={2022},
  pages={1-5},
  language={eng},
  issn={1876-7753},
  volume={64},
  number={Artikel-ID 102879},
  note={Online verf{\"u}gbar 29 July 2022, Version des Artikels 2 August 2022 ; Gesehen am 20.10.2022},
  journal={Stem cell research},
  doi={10.1016/j.scr.2022.102879},
}
@article{UBHD-68938289,
  author={Schr{\"o}ter, Julian and Syring, Hanna and G{\"o}hring, Gudrun and K{\"o}lker, Stefan and Opladen, Thomas and Hoffmann, Georg F. and Syrbe, Steffen and Jung-Klawitter, Sabine},
  title={Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathy},
  year={2022},
  pages={1-4},
  language={eng},
  issn={1876-7753},
  volume={62},
  number={Artikel-ID 102818},
  note={Gesehen am 06.07.2022},
  journal={Stem cell research},
  doi={10.1016/j.scr.2022.102818},
  url={https://doi.org/10.1016/j.scr.2022.102818},
  library={UB},
}
@article{UBHD-68242371,
  author={Schubert, Julian and Hoffmann, Georg F. and Rating, Dietz},
  title={PRRT2 Mutations are the major cause of benign familial infantile seizures},
  year={2012},
  pages={1439-1443},
  language={eng},
  issn={1098-1004},
  volume={33},
  number={10},
  note={Gesehen am 12.04.2018},
  journal={Human mutation},
  doi={10.1002/humu.22126},
}
@article{UBHD-68901213,
  author={Schulze, Andreas and Mayatepek, Ertan and Hoffmann, Georg F.},
  title={Evaluation of 6-year application of the enzymatic colorimetric phenylalanine assay in the setting of neonatal screening for phenylketonuria. In memoriam Horst Bickel.},
  year={2002},
  pages={27-37},
  language={eng},
  issn={1873-3492},
  volume={317},
  number={1},
  note={Available online 18 October 2001 ; Gesehen am 30.03.2022},
  journal={Clinica chimica acta},
  doi={10.1016/S0009-8981(01)00736-7},
}
@article{UBHD-68675586,
  author={Schulze, Andreas and Lindner, Martin and Kohlm{\"u}ller, Dirk and Vill, Katharina and Mayatepek, Ertan and Hoffmann, Georg F.},
  title={Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry},
  subtitle={results, outcome, and implications},
  year={2003},
  pages={1399-1406},
  language={eng},
  issn={1098-4275},
  volume={111},
  number={6},
  note={Gesehen am 21.12.2020},
  journal={Pediatrics},
  doi={10.1542/peds.111.6.1399},
}
@article{UBHD-68675950,
  author={Schulze, Andreas and Bachert, Peter and Schlemmer, Heinz-Peter and Harting, Inga and Polster, Tilman and Salomons, Gajja S. and Verhoeven, Nanda M. and Jakobs, Cornelis and Fowler, Brian and Hoffmann, Georg F. and Mayatepek, Ertan},
  title={Lack of creatine in muscle and brain in an adult with GAMT deficiency},
  year={2003},
  pages={248-251},
  language={eng},
  issn={1531-8249},
  volume={53},
  number={2},
  note={Gesehen am 22.12.2020},
  journal={Annals of neurology},
  doi={10.1002/ana.10455},
}
@article{UBHD-69188624,
  author={Seidl, Marie and Scharré, Svenja and Posset, Roland and Druck, Ann-Catrin and Epp, Friederike and Okun, J{\"u}rgen G. and Dimitrov, Bianca and Hoffmann, Georg F. and K{\"o}lker, Stefan and Zielonka, Matthias},
  title={ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae},
  year={2024},
  pages={1-11},
  language={eng},
  issn={1096-7206},
  volume={141},
  note={Online verf{\"u}gbar: 28. November 2023, Artikelversion: 18. Dezember 2023 ; Gesehen am 06.03.2024},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2023.108097},
}
@article{UBHD-69112833,
  author={Semino, Francesca and Schr{\"o}ter, Julian and Willemsen, Marjolein H. and Bast, Thomas and Biskup, Saskia and Beck-Woedl, Stefanie and Brennenstuhl, Heiko and Schaaf, Christian P. and K{\"o}lker, Stefan and Hoffmann, Georg F. and Haack, Tobias and Syrbe, Steffen},
  title={Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder},
  year={2021},
  pages={1094-1100},
  language={eng},
  issn={1098-1004},
  volume={42},
  number={9},
  note={Gesehen am 15.08.2023},
  journal={Human mutation},
  doi={10.1002/humu.24245},
  url={https://doi.org/10.1002/humu.24245},
  library={UB},
}
@article{UBHD-68681865,
  author={Serpi, Mario and Hoffmann, Georg F. and Kircheisen, R. and Vnencak-Jones, C. and Feist, D. and Wermuth, B. and Zilow, E. and Springer, W. and T{\"o}nshoff, Burkhard and Dominick, H. C.},
  title={Intestinale Transportst{\"o}rung},
  subtitle={Ungew{\"o}hnliches Leitsymptom bei einem Neugeborenem mit Carbamylphosphat-Synthetasemangel},
  year={1999},
  pages={375-383},
  language={ger},
  issn={0030-9346},
  volume={56},
  journal={P{\"a}diatrische Praxis},
}
@article{UBHD-68494910,
  author={Shen, Nan and Heintz, Caroline and Thiel, Christian and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and Blau, Nenad},
  title={Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation},
  year={2016},
  pages={328-335},
  language={eng},
  issn={1096-7206},
  volume={117},
  number={3},
  note={Gesehen am 28.02.2020},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2016.01.004},
}
@article{UBHD-68434599,
  author={Shibata, Naoaki and Hasegawa, Yuki and Yamada, Kenji and Kobayashi, Hironori and Purevsuren, Jamiyan and Yang, Yanling and Dung, Vu Chi and Khanh, Nguyen Ngoc and Verma, Ishwar C. and Bijarnia-Mahay, Sunita and Lee, Dong Hwan and Niu, Dau-Ming and Hoffmann, Georg F. and Shigematsu, Yosuke and Fukao, Toshiyuki and Fukuda, Seiji and Taketani, Takeshi and Yamaguchi, Seiji},
  title={Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries},
  subtitle={Selective screening vs. expanded newborn screening},
  year={2018},
  pages={5-10},
  language={eng},
  issn={2214-4269},
  volume={16},
  note={Gesehen am 01.10.2019},
  journal={Molecular genetics and metabolism reports},
  doi={10.1016/j.ymgmr.2018.05.003f per},
}
@article{UBHD-67846894,
  author={Šimaitė, Deimantė and Hoffmann, Georg F. and Blau, Nenad},
  title={Recessive mutations in PCBD1 cause a new type of early-onset diabetes},
  year={2014},
  pages={3557-3564},
  language={eng},
  issn={1939-327X},
  volume={63},
  number={10},
  note={Gesehen am 16.07.2015},
  journal={Diabetes},
  doi={10.2337/db13-1784},
}
@article{UBHD-68422019,
  author={Simm, Franziska and Griesbeck, Anne and Choukair, Daniela and Weiß, Birgit and Paramasivam, Nagarajan and Klammt, J{\"u}rgen and Schlesner, Matthias and Wiemann, Stefan and Martinez, Cristina and Hoffmann, Georg F. and Pf{\"a}ffle, Roland Werner and Bettendorf, Markus and Rappold, Gudrun},
  title={Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency},
  year={2018},
  pages={728-736},
  language={eng},
  issn={1530-0366},
  volume={20},
  number={7},
  note={Advance online publication: 26 October 2017 ; Gesehen am 19.08.2019},
  journal={Genetics in medicine},
  doi={10.1038/gim.2017.165},
}
@article{UBHD-68974266,
  author={Simonetti, Giacomo D. and Schwertz, Rainer and Klett, Martin and Hoffmann, Georg F. and Schaefer, Franz and W{\"u}hl, Elke},
  title={Determinants of blood pressure in preschool children},
  year={2011},
  pages={292-298},
  language={eng},
  issn={1524-4539},
  volume={123},
  number={3},
  note={Gesehen am 14.10.2022},
  journal={Circulation},
  doi={10.1161/CIRCULATIONAHA.110.958769},
}
@article{UBHD-68381178,
  author={Sláma, Tomáš and Garbade, Sven and K{\"o}lker, Stefan and Hoffmann, Georg F. and Ries, Markus},
  title={Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis},
  subtitle={a cross-sectional study},
  year={2019},
  pages={295-302},
  language={eng},
  issn={1573-2665},
  volume={42},
  number={2},
  note={First published: 27 December 2018 ; Gesehen am 17.04.2019},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12010},
}
@article{UBHD-67660545,
  author={Sommerburg, Olaf and Lindner, Martin and Stahl, Mirjam and Muckenthaler, Martina and Kohlm{\"u}ller, Dirk and Happich, Margit and Kulozik, Andreas and Mall, Marcus A. and Hoffmann, Georg F.},
  title={Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations},
  year={2014},
  pages={15-23},
  language={eng},
  issn={1873-5010},
  volume={13},
  number={1},
  note={Gesehen am 13.08.2014},
  journal={Journal of cystic fibrosis},
  doi={10.1016/j.jcf.2013.06.003},
}
@article{UBHD-68956963,
  author={Sommerburg, Olaf and Stahl, Mirjam and H{\"a}mmerling, Susanne Hedwig and Gramer, Gwendolyn and Muckenthaler, Martina and Okun, J{\"u}rgen G. and Kohlm{\"u}ller, Dirk and Happich, Margit and Kulozik, Andreas and Mall, Marcus A. and Hoffmann, Georg F.},
  title={Final results of the southwest German pilot study on cystic fibrosis newborn screening},
  subtitle={evaluation of an IRT/PAP protocol with IRT-dependent safety net},
  year={2022},
  pages={422-433},
  language={eng},
  issn={1873-5010},
  volume={21},
  number={3 vom: Mai},
  note={Available online 9 November 2021 ; Gesehen am 24.08.2022},
  journal={Journal of cystic fibrosis},
  doi={10.1016/j.jcf.2021.10.007},
}
@article{UBHD-67877379,
  author={Sommerburg, Olaf and Stahl, Mirjam and Muckenthaler, Martina and Kohlm{\"u}ller, Dirk and Happich, Margit and Kulozik, Andreas and Hoffmann, Georg F. and Mall, Marcus A.},
  title={Five years of experience with biochemical cystic fibrosis newborn screening based on IRT/PAP in Germany},
  year={2015},
  pages={655-664},
  language={eng},
  issn={1099-0496},
  volume={50},
  number={7},
  note={Gesehen am 24.09.2015},
  journal={Pediatric pulmonology},
  doi={10.1002/ppul.23190},
}
@article{UBHD-69113884,
  author={Sommerburg, Olaf and Lindner, Martin and Muckenthaler, Martina and Kohlm{\"u}ller, Dirk and Leible, Svenja and Feneberg, Reinhard and Kulozik, Andreas and Mall, Marcus A. and Hoffmann, Georg F.},
  title={Initial evaluation of a biochemical cystic fibrosis newborn screening by sequential analysis of immunoreactive trypsinogen and pancreatitis-associated protein (IRT/PAP) as a strategy that does not involve DNA testing in a Northern European population},
  year={2010},
  pages={S263-271},
  language={eng},
  issn={1573-2665},
  volume={33},
  number={Suppl 2},
  note={Gesehen am 18.08.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-010-9174-7},
}
@article{UBHD-68290165,
  author={Sommerburg, Olaf and Mall, Marcus A. and Hoffmann, Georg F.},
  title={Das Mukoviszidosescreening wird in Deutschland eingef{\"u}hrt},
  subtitle={was m{\"u}ssen die P{\"a}diater in der Praxis wissen?},
  year={2017},
  pages={49-54},
  language={ger},
  issn={1433-0474},
  volume={165},
  number={1},
  note={First online: 02 December 2016 ; Gesehen am 30.07.2018},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-016-0216-6},
}
@article{UBHD-68290168,
  author={Sommerburg, Olaf and Stahl, Mirjam and Okun, J{\"u}rgen G. and Kulozik, Andreas and Hoffmann, Georg F. and Mall, Marcus A.},
  title={Neugeborenenscreening auf Mukoviszidose in Deutschland},
  subtitle={Vergleich des neuen Screening-Protokolls mit einem Alternativprotokoll =},
  year={2017},
  pages={59-66},
  language={ger},
  issn={1439-3824},
  volume={229},
  number={2},
  note={Publikationsdatum: 25. April 2017 (online) ; Gesehen am 30.07.2018},
  journal={Klinische P{\"a}diatrie},
  doi={10.1055/s-0042-124187},
}
@article{UBHD-68745891,
  author={Sonnek, Benedikt and Driedger, Jan Henje and M{\"u}tze, Ulrike and Schubert-Bast, Susanne and Bast, Thomas and Balke, Doreen and Reuner, Gitta and Schuler, Elisabeth and Klabunde-Cherwon, Annick and Hoffmann, Georg F. and K{\"o}lker, Stefan and Syrbe, Steffen},
  title={Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS)},
  year={2021},
  pages={121-127},
  language={eng},
  issn={1532-2130},
  volume={30},
  note={Online 24 October 2020 ; Gesehen am 08.06.2021},
  journal={European journal of paediatric neurology},
  doi={10.1016/j.ejpn.2020.10.010},
}
@article{UBHD-69185097,
  author={Specht, Sabine and Zhukova, Irina and Westhoff, Jens and Erb, Larissa Diana and Ziegler, Andreas and K{\"o}lker, Stefan and Hoffmann, Georg F. and Hagmann, Sébastien and Syrbe, Steffen},
  title={Fat embolism syndrome in Duchenne muscular dystrophy},
  subtitle={report on a novel case and systematic literature review},
  year={2024},
  pages={91-100},
  language={eng},
  issn={1532-2130},
  volume={48(2024) vom: Jan.},
  note={Online verf{\"u}gbar: 6. Dezember 2023, Artikelversion: 13. Dezember 2023 ; Gesehen am 23.02.2024},
  journal={European journal of paediatric neurology},
  doi={10.1016/j.ejpn.2023.11.012},
}
@article{UBHD-68556374,
  author={Spronsen, F. J. van and Himmelreich, Nastassja and R{\"u}fenacht, Véronique and Shen, Nan and Vliet, Danique van and Al-Owain, Mohammed and Ramzan, Khushnooda and Alkhalifi, Salwa M. and Lunsing, Roelineke J. and Heiner-Fokkema, Rebecca M. and Rassi, Anahita and Gemperle-Britschgi, Corinne and Hoffmann, Georg F. and Blau, Nenad and Th{\"o}ny, Beat},
  title={Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia},
  subtitle={from attention deficit to severe dystonia and intellectual disability},
  year={2018},
  pages={249-253},
  language={eng},
  issn={1468-6244},
  volume={55},
  number={4},
  note={Gesehen am 23.03.2020 ; Published online first 9 August 2017},
  journal={Journal of medical genetics},
  doi={10.1136/jmedgenet-2017-104875},
}
@article{UBHD-68576392,
  author={Staufner, Christian and Lindner, Martin and Straub, Beate Katharina and K{\"o}lker, Stefan and Haas, Dorothea and Hoffmann, Georg F.},
  title={Adenosine kinase deficiency},
  subtitle={expanding the clinical spectrum and evaluating therapeutic options},
  year={2016},
  pages={273-283},
  language={eng},
  issn={1573-2665},
  volume={39},
  number={2},
  note={Published online: 7 December 2015 ; Gesehen am 13.05.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-015-9904-y},
}
@article{UBHD-68564563,
  author={Staufner, Christian and Leibner, Alexander and Moog, Ute and Diwan, Gaurav and Dikow, Nicola and Russell, Robert B. and Garbade, Sven and K{\"o}lker, Stefan and Hoffmann, Georg F. and Lenz, Dominic},
  title={Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients},
  year={2020},
  pages={610-621},
  language={eng},
  issn={1530-0366},
  volume={22},
  number={3},
  note={Published online: 25 November 2019 ; Gesehen am 15.04.2020},
  journal={Genetics in medicine},
  doi={10.1038/s41436-019-0698-4},
}
@article{UBHD-68220706,
  author={Staufner, Christian and Feyh, Patrik and Gramer, Gwendolyn and Ediga, Raga and Sauer, Sven and Okun, J{\"u}rgen G. and Fang-Hoffmann, Junmin and Hoffmann, Georg F. and K{\"o}lker, Stefan},
  title={Genetic cause and prevalence of hydroxyprolinemia},
  year={2016},
  pages={625-632},
  language={eng},
  issn={1573-2665},
  volume={39},
  number={5},
  note={Gesehen am 15.02.2018},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-016-9940-2},
}
@article{UBHD-68356925,
  author={Staufner, Christian and K{\"o}lker, Stefan and Hoffmann, Georg F. and Harting, Inga},
  title={MRI and 1H-MRS in adenosine kinase deficiency},
  year={2016},
  pages={697-703},
  language={eng},
  issn={1432-1920},
  volume={58},
  number={7},
  note={Gesehen am 11.02.2019 ; Im Titel ist "1" im 1H-MRS hochgestellt},
  journal={Neuroradiology},
  doi={10.1007/s00234-016-1676-z},
}
@article{UBHD-68576374,
  author={Staufner, Christian and Straub, Beate Katharina and K{\"o}lker, Stefan and Thiel, Christian and Dikow, Nicola and Harting, Inga and Beisse, Flemming and Burgard, Peter and Kotzaeridou, Urania and Lenz, Dominic and Hoffmann, Georg F.},
  title={Recurrent acute liver failure due to NBAS deficiency},
  subtitle={phenotypic spectrum, disease mechanisms, and therapeutic concepts},
  year={2016},
  pages={3-16},
  language={eng},
  issn={1573-2665},
  volume={39},
  number={1},
  note={Published online: 5 November 2015 ; Gesehen am 13.05.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-015-9896-7},
}
@article{UBHD-69077859,
  author={Stich, Maximilian and Benning, Louise and Speer, Claudius and Garbade, Sven and Bartenschlager, Marie and Kim, Heeyoung and Jeltsch, Kathrin and Tabatabai, Julia and Niesert, Moritz and Janda, Aleš and Renk, Hanna and Elling, Roland and Hoffmann, Georg F. and Kr{\"a}usslich, Hans-Georg and M{\"u}ller, Barbara and Bartenschlager, Ralf and T{\"o}nshoff, Burkhard},
  title={Live-virus neutralization of the omicron variant in children and adults 14 months after SARS-CoV-2 wild-type infection},
  year={2023},
  pages={1-11},
  language={eng},
  issn={1096-9071},
  volume={95},
  note={Gesehen am 22.05.2023},
  journal={Journal of medical virology},
  doi={10.1002/jmv.28582},
  url={https://doi.org/10.1002/jmv.28582},
  library={UB},
}
@article{UBHD-68866484,
  author={Stich, Maximilian and Elling, Roland and Renk, Hanna and Janda, Ales̆ and Garbade, Sven and M{\"u}ller, Barbara and Kr{\"a}usslich, Hans-Georg and Fabricius, Dorit and Zernickel, Maria and Meissner, Peter and Huzly, Daniela and Grulich-Henn, J{\"u}rgen and Haddad, Anneke and G{\"o}rne, Tessa and Spielberger, Benedikt Daniel and Fritsch, Linus and Nieters, Alexandra and Hengel, Hartmut and Dietz, Andrea N. and Stamminger, Thomas and Ganzenm{\"u}ller, Tina and Ruetalo Buschinger, Natalia and Peter, Andreas and Remppis, Jonathan and Iftner, Thomas and Jeltsch, Kathrin and Waterboer, Tim and Franz, Axel Rainer and Hoffmann, Georg F. and Engel, Corinna and Debatin, Klaus-Michael and T{\"o}nshoff, Burkhard and Henneke, Philipp},
  title={Transmission of severe acute respiratory syndrome coronavirus 2 in households with children, Southwest Germany, May–August 2020},
  year={2021},
  pages={3009-3019},
  language={eng},
  issn={1080-6059},
  volume={27},
  number={12},
  note={Gesehen am 14.01.2022},
  journal={Emerging infectious diseases},
  doi={10.3201/eid2712.210978},
}
@article{UBHD-69055984,
  author={Stich, Maximilian and Benning, Louise and Speer, Claudius and Garbade, Sven and Bartenschlager, Marie and Kim, Heeyoung and Gleich, Florian and Jeltsch, Kathrin and Haase, Bettina and Janda, Ales̆ and Renk, Hanna and Elling, Roland and Schnitzler, Paul and Waterboer, Tim and Hoffmann, Georg F. and Kr{\"a}usslich, Hans-Georg and M{\"u}ller, Barbara and Bartenschlager, Ralf and T{\"o}nshoff, Burkhard},
  title={Waning immunity 14 months after SARS-CoV-2 infection},
  year={2022},
  pages={1-4},
  language={eng},
  issn={1098-4275},
  volume={150},
  note={Accepted: August 02 2022 ; Gesehen am 27.03.2023},
  journal={Pediatrics},
  doi={10.1542/peds.2022-057151},
}
@article{UBHD-68590111,
  author={Stockklausner, Clemens and Raffel, Simon and Klermund, Julia and Bandapalli, Obul Reddy and Beier, Fabian and Br{\"u}mmendorf, Tim Henrik and B{\"u}rger, Friederike and Sauer, Sven and Hoffmann, Georg F. and Lorenz, Holger and Tagliaferri, Laura and Nowak, Daniel and Hofmann, Wolf-Karsten and B{\"u}rgermeister, Rebecca and Kerber, Carolin and Rausch, Tobias and Korbel, Jan Oliver and Luke, Brian and Trumpp, Andreas and Kulozik, Andreas},
  title={A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition},
  year={2015},
  pages={911-927},
  language={eng},
  issn={1945-4589},
  volume={7},
  number={11},
  note={Gesehen am 23.06.2020},
  journal={Aging},
}
@article{UBHD-68387986,
  author={Stockklausner, Clemens and Lampert, Anette and Hoffmann, Georg F. and Ries, Markus},
  title={Novel treatments for rare cancers},
  subtitle={the U.S. orphan drug act is delivering : a cross-sectional analysis},
  year={2016},
  pages={487-493},
  language={eng},
  issn={1549-490X},
  volume={21},
  number={4},
  note={Gesehen am 08.05.2019},
  journal={The oncologist},
  doi={10.1634/theoncologist.2015-0397},
}
@book{UBHD-65847873,
  editor={Hoffmann, Georg F. and Grau, Armin J.},
  title={Stoffwechselerkrankungen in der Neurologie},
  subtitle={53 Tabellen},
  publisher={Thieme},
  address={Stuttgart [u.a.]},
  year={2004},
  pages={XVI, 212 S},
  language={ger},
  isbn={3-13-136321-5 and 978-3-13-136321-3},
  series={RRN - Referenz-Reihe Neurologie : Klinische Neurologie},
  keywords={Stoffwechselkrankheit / Angeborene Krankheit / Neurologie},
  library={ZP [Signatur: <ZP> JP 1539]},
}
@book{UBHD-67595817,
  editor={Hoffmann, Georg F. and Grau, Armin J.},
  title={Stoffwechselerkrankungen in der Neurologie},
  subtitle={53 Tabellen},
  publisher={Thieme},
  address={Stuttgart [u.a.]},
  year={2004},
  pages={Online-Ressource (XVI, 212 S.)},
  language={ger},
  isbn={978-3-13-188571-5},
  series={Referenz-Reihe Neurologie: Klinische Neurologie},
  doi={10.1055/b-002-11387},
  keywords={Stoffwechselkrankheit / Angeborene Krankheit / Neurologie},
}
@article{UBHD-68264319,
  author={Syrbe, Steffen and M{\"u}tze, Ulrike and Hoffmann, Georg F. and Korenke, Christoph},
  title={Delineating SPTAN1 associated phenotypes},
  subtitle={from isolated epilepsy to encephalopathy with progressive brain atrophy},
  year={2017},
  pages={2322-2336},
  language={eng},
  issn={1460-2156},
  volume={140},
  number={9},
  note={ Published: 24 August 2017 ; Gesehen am 22.06.2018},
  journal={Brain},
  doi={10.1093/brain/awx195},
}
@article{UBHD-68264886,
  author={Tagliaferri, Laura and Kunz, Joachim and Happich, Margit and Bruckner, Thomas and H{\"u}bschmann, Daniel and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and Muckenthaler, Martina and Kulozik, Andreas},
  title={Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC)},
  year={2017},
  pages={51-55},
  language={eng},
  issn={1521-7035},
  volume={175},
  note={Available online 2 December 2016 ; Gesehen am 25.06.2018},
  journal={Clinical immunology},
  doi={10.1016/j.clim.2016.11.016},
}
@article{UBHD-69094410,
  author={Tesorero, Rafael and Janda, Joachim and H{\"o}rster, Friederike and Feyh, Patrik and M{\"u}tze, Ulrike and Hauke, Jana and Schwarz, Kathrin and Kunz, Joachim and Hoffmann, Georg F. and Okun, J{\"u}rgen G.},
  title={A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry},
  year={2023},
  pages={1-16},
  language={eng},
  issn={1932-6203},
  volume={18},
  note={Gesehen am 07.07.2023},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0283024},
}
@article{UBHD-68594212,
  author={Teufel-Sch{\"a}fer, Ulrike and Peccerella, Teresa and Engelmann, Guido and Bruckner, Thomas and Flechtenmacher, Christa and Millonig, Gunda and Stickel, Felix and Hoffmann, Georg F. and Schirmacher, Peter and Mueller, Sebastian and Bartsch, Helmut and Seitz, Helmut K.},
  title={Detection of carcinogenic etheno-DNA adducts in children and adolescents with non-alcoholic steatohepatitis (NASH)},
  year={2015},
  pages={426-435},
  language={eng},
  issn={2304-389X},
  volume={4},
  number={6},
  note={Gesehen am 30.06.2020},
  journal={Hepatobiliary surgery and nutrition},
}
@book{UBHD-68399750,
  author={Teufel-Sch{\"a}fer, Ulrike and Burgard, Peter and Meyburg, Jochen and Lindner, Martin and P{\"o}schl, Johannes and Ruef, Peter and Hoffmann, Georg F. and K{\"o}lker, Stefan},
  title={High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders},
  publisher={BioMed Central},
  address={London},
  year={2019},
  pages={1 Online-Ressource (7 Seiten)},
  language={eng},
  note={In: Orphanet Journal of Rare Diseases, 14 (2019), Nr. 80. pp. 1-7. ISSN 1750-1172},
  doi={10.1186/s13023-019-1055-z},
  url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-263412},
  library={UB},
}
@article{UBHD-68394810,
  author={Teufel-Sch{\"a}fer, Ulrike and Burgard, Peter and Meyburg, Jochen and P{\"o}schl, Johannes and Hoffmann, Georg F. and K{\"o}lker, Stefan},
  title={High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders},
  year={2019},
  pages={1-7},
  language={eng},
  issn={1750-1172},
  volume={14},
  number={Artikel-ID 80},
  note={Gesehen am 03.06.2019},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-019-1055-z},
}
@article{UBHD-67246260,
  author={Teufel-Sch{\"a}fer, Ulrike and Weitz, J{\"u}rgen and Flechtenmacher, Christa and Schmidt, Jan and Hoffmann, Georg F. and K{\"o}lker, Stefan},
  title={High urgency liver transplantation in ornithine transcarbamylase deficiency presenting with acute liver failure},
  year={2011},
  language={eng},
  issn={1399-3046},
  volume={15(2011},
  journal={Pediatric transplantation},
  doi={10.1111/j.1399-3046.2009.01171.x},
}
@article{UBHD-69098314,
  author={Thalwitzer, Kim M. and Driedger, Jan Henje and Xian, Julie and Saffari, Afshin and Zacher, Pia and B{\"o}lsterli, Bigna K. and McKeown Ruggiero, Sarah and Sullivan, Katie Rose and Datta, Alexandre N. and Kellinghaus, Christoph and Althaus, J{\"u}rgen and Wiemer-Kruel, Adelheid and van Baalen, Andreas and Pampel, Armin and Alber, Michael and Braakman, Hilde M. H. and Debus, Otfried Martin and Denecke, Jonas and Hobbiebrunken, Elke and Breitweg, Ina and Diehl, Danielle and Eitel, Hans Christian and Gburek-Augustat, Janina and Preisel, Martin and Schlump, Jan-Ulrich and Laufs, Mirjam and Mammadova, Dilbar and Wurst, Carsten and Prager, Christine and L{\"o}hr-Nilles, Christa and Martin, Peter and Garbade, Sven and Platzer, Konrad and Benkel-Herrenbrueck, Ira and Egler, Kerstin and Fazeli, Walid and Lemke, Johannes R. and Runkel, Eva and Klein, Barbara and Linden, Tobias and Schr{\"o}ter, Julian and Steffeck, Heike and Thies, Bastian and Deimling, Florian von and Illsinger, Sabine and Borggr{\"a}fe, Ingo and Classen, Georg and Wieczorek, Dagmar and Ramantani, Georgia and K{\"o}lker, Stefan and Hoffmann, Georg F. and Ries, Markus and Helbig, Ingo and Syrbe, Steffen},
  title={Natural history and developmental trajectories of individuals with disease-causing variants in STXBP1},
  year={2023},
  pages={e879-e891},
  language={eng},
  issn={1526-632X},
  volume={101},
  number={9},
  note={Gesehen am 17.07.2023},
  journal={Neurology},
  doi={10.1212/WNL.0000000000207550},
}
@article{UBHD-68873769,
  author={Thiel, Christian and Meßner-Schmitt, Dorothea and Hoffmann, Georg F. and K{\"o}rner, Christian},
  title={Screening for congenital disorders of glycosylation in the first weeks of life},
  year={2013},
  pages={887-892},
  language={eng},
  issn={1573-2665},
  volume={36},
  number={5},
  note={Published online: 19 September 2012 ; Gesehen am 03.02.2022},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-012-9531-9},
}
@article{UBHD-68697209,
  author={T{\"o}nshoff, Burkhard and M{\"u}ller, Barbara and Elling, Roland and Renk, Hanna and Meissner, Peter and Hengel, Hartmut and Garbade, Sven and Kieser, Meinhard and Jeltsch, Kathrin and Grulich-Henn, J{\"u}rgen and Euler, Julia and Stich, Maximilian and Chobanyan-J{\"u}rgens, Kristine and Zernickel, Maria and Janda, Aleš and W{\"o}lfle, Lena and Stamminger, Thomas and Iftner, Thomas and Ganzenmueller, Tina and Schmitt, Christian and G{\"o}rne, Tessa and Laketa, Vibor and Olberg, Sylvia and Plaszczyca, Anna and Cortese, Mirko and Bartenschlager, Ralf and Pape, Constantin and Remme, Roman and Huzly, Daniela and Panning, Marcus and Weigang, Sebastian and Giese, Sebastian and Ciminski, Kevin and Ankerhold, Jakob and Engel, Corinna and Hoffmann, Georg F. and Kr{\"a}usslich, Hans-Georg},
  title={Prevalence of SARS-CoV-2 infection in children and their parents in southwest Germany},
  year={2021},
  pages={586-593},
  language={eng},
  issn={2168-6211},
  volume={175},
  number={6},
  note={Gesehen am 09.02.2021},
  journal={JAMA pediatrics},
  doi={10.1001/jamapediatrics.2021.0001},
}
@article{UBHD-68230528,
  author={Unsinn, Caroline and Hoffmann, Georg F.},
  title={Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013},
  year={2016},
  language={eng},
  issn={1750-1172},
  volume={11(2016) Artikel-Nummer 116},
  number={11 Seiten},
  note={Gesehen am 14.03.2018},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-016-0493-0},
}
@article{UBHD-69281483,
  author={Urban, Oliver Y. and Driedger, Jan Henje and Garbade, Sven and Hoffmann, Georg F. and K{\"o}lker, Stefan and Ries, Markus and Syrbe, Steffen},
  title={Systematic quantitative modeling of the natural history of Aicardi syndrome},
  subtitle={a cross sectional study of 245 published cases},
  year={2024},
  pages={1-11},
  language={eng},
  issn={1750-1172},
  volume={19},
  number={Artikel-ID 457},
  note={Gesehen am 09.12.2024},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-024-03375-8},
}
@article{UBHD-68081729,
  author={Wassenberg, Tessa and Jeltsch, Kathrin and Hoffmann, Georg F. and Assmann, Birgit and Blau, Nenad and Opladen, Thomas},
  title={Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency},
  year={2017},
  language={eng},
  issn={1750-1172},
  volume={12(2017) Artikel-Nummer 12},
  number={21 Seiten},
  note={Gesehen am 08.02.2017},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-016-0522-z},
  url={http://dx.doi.org/10.1186/s13023-016-0522-z},
  library={UB},
}
@book{UBHD-68089929,
  author={Wassenberg, Tessa and Jeltsch, Kathrin and Hoffmann, Georg F. and Assmann, Birgit and Blau, Nenad and Opladen, Thomas},
  title={Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency},
  publisher={BioMed Central},
  address={London},
  year={2017},
  pages={1 Online-Ressource (21 Seiten)},
  language={eng},
  note={Wissenschaftlicher Aufsatz aus: Orphanet Journal of Rare Diseases, 12 (2017), Nr. 12. pp. 1-21. ISSN 1750-1172},
  doi={10.1186/s13023-016-0522-z},
  url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-225085},
  library={UB},
}
@article{UBHD-68585654,
  author={Weidler, Sophia and Sommerburg, Olaf and Mall, Marcus A. and Hoffmann, Georg F. and Kohlm{\"u}ller, Dirk and Okun, J{\"u}rgen G.},
  title={A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening},
  year={2016},
  pages={752-758},
  language={eng},
  issn={1873-5010},
  volume={15},
  number={6},
  note={Gesehen am 09.06.2020},
  journal={Journal of cystic fibrosis},
  doi={10.1016/j.jcf.2016.07.002},
}
@article{UBHD-68641228,
  author={Weigand, Tim and Colbatzky, Florian and Pfeffer, Tilman and Garbade, Sven and Klingbeil, Kristina and Becker, Michael and Zemva, Johanna and Bulkescher, Ruben and Sch{\"u}rfeld, Robin and Thiel, Christian and Volk, Nadine and Reuss, David and Hoffmann, Georg F. and Freichel, Marc and Hecker, Markus and Poth, Tanja and Fleming, Thomas and Poschet, Gernot and Schmitt, Claus P. and Peters, Verena},
  title={A global Cndp1-knock-out selectively increases renal carnosine and anserine concentrations in an age- and gender-specific manner in mice},
  year={2020},
  pages={1-20},
  language={eng},
  issn={1422-0067 and 1661-6596},
  volume={21},
  note={In der Verantwortlichkeitsangabe ist Herr Florian Colbatzky zweimal genannt ; Gesehen am 29.09.2020},
  journal={International journal of molecular sciences},
  doi={10.3390/ijms21144887},
}
@article{UBHD-68129684,
  author={Weirich, Angela and Hoffmann, Georg F.},
  title={Erich von Baeyer (1909-1990)},
  subtitle={Medizinstudent in der Weimarer Republik und Portr{\"a}tzeichner von Professoren der Heidelberger Universit{\"a}t},
  year={2011},
  pages={167-178},
  language={ger},
  issn={1432-6116},
  volume={16.2012},
  journal={Heidelberg},
}
@incollection{UBHD-69226807,
  author={Weirich, Angela and Hoffmann, Georg F.},
  title={Von der privaten, {\"u}berwiegend karitativen Kinderheilanstalt (1860) zur staatlichen Universit{\"a}tskinderklinik Heidelberg (1923)},
  year={2010},
  pages={29-54},
  language={ger},
  isbn={978-3-87409-489-4},
  booktitle={Entwicklungen und Perspektiven der Kinder- und Jugendmedizin},
  editor={Hoffmann, Georg F.},
  keywords={Universit{\"a}tsklinikum Heidelberg / Kinderklinik / Geschichte 1900-2000 / Geschichte 1800-1900 / Geschichte 2000-2020 / Universit{\"a}tsklinik / Heidelberg},
}
@article{UBHD-68640893,
  author={Westhoff, Jens and Heigwer, Jana and Bruckner, Thomas and T{\"o}nshoff, Burkhard and Hoffmann, Georg F. and Gehrig, Jochen},
  title={In vivo high-content screening in zebrafish for developmental nephrotoxicity of approved drugs},
  year={2020},
  pages={15 S.},
  language={eng},
  issn={2296-634X},
  volume={8(2020) Artikel-Nummer 583},
  number={15 Seiten},
  note={Gesehen am 28.09.2020},
  journal={Frontiers in cell and developmental biology},
  doi={10.3389/fcell.2020.00583},
  url={https://doi.org/10.3389/fcell.2020.00583},
  library={UB},
}
@article{UBHD-69178573,
  author={Willemsen, Michèl A. and Verbeek, Marcel M. and Kamsteeg, Erik-Jan and Rijk-van Andel, Johanneke F. de and Aeby, Alec and Blau, Nenad and Burlina, Alberto and Donati, Maria A. and Geurtz, Ben and Grattan-Smith, Padraic J. and Haeussler, Martin and Hoffmann, Georg F. and Jung, Hans and Klerk, Johannis B. de and Van der Knaap, Marjo S. and Kok, Fernando and Leuzzi, Vincenzo and Lonlay, Pascale de and Megarbane, Andre and Monaghan, Hugh and Renier, Willy O. and Rondot, Pierre and Ryan, Monique M. and Seeger, J{\"u}rgen and Smeitink, Jan A. and Steenbergen-Spanjers, Gerry C. and Wassmer, Evangeline and Weschke, Bernhard and Wijburg, Frits A. and Wilcken, Bridget and Zafeiriou, Dimitrios I. and Wevers, Ron A.},
  title={Tyrosine hydroxylase deficiency},
  subtitle={a treatable disorder of brain catecholamine biosynthesis},
  year={2010},
  pages={1810-1822},
  language={eng},
  issn={1460-2156},
  volume={133},
  number={6 vom: Juni},
  note={Published: 29 April 2010 ; Gesehen am 07.02.2024},
  journal={Brain},
  doi={10.1093/brain/awq087},
}
@article{UBHD-68561076,
  author={Wolf, Nicole and Rating, Dietz and Hoffmann, Georg F.},
  title={ATAD1 encephalopathy and stiff baby syndrome},
  subtitle={a recognizable clinical presentation},
  year={2018},
  pages={2 S.},
  language={eng},
  issn={1460-2156},
  volume={141(2018},
  note={Gesehen am 03.04.2020},
  journal={Brain},
  doi={10.1093/brain/awy095},
}
@article{UBHD-68713625,
  author={Wolf, Nicole and Harting, Inga and Boltshauser, E. and Wiegand, G. and Koch, Martin Jean and Schmitt-Mechelke, T. and Martin, E. and Zschocke, Johannes and Uhlenberg, B. and Hoffmann, Georg F. and Weber, L. and Ebinger, Friedrich and Rating, Dietz},
  title={Leukoencephalopathy with ataxia, hypodontia, and hypomyelination},
  year={2005},
  pages={1461-1464},
  language={eng},
  issn={1526-632X},
  volume={64},
  number={8},
  note={Gesehen am 17.03.2021},
  journal={Neurology},
  doi={10.1212/01.WNL.0000158615.56071.E3},
}
@article{UBHD-68323639,
  author={Boy, Nikolas and Heringer-Seifert, Jana and Haege, Gisela and Glahn, Esther M. and Hoffmann, Georg F. and Garbade, Sven and Burgard, Peter and K{\"o}lker, Stefan and Staufner, Christian and Kool, Marcel},
  organization={Workshop for Pediatric Research <52., 2016, Frankfurt am Main>},
  title={Abstracts of the 52nd Workshop for Pediatric Research},
  subtitle={Frankfurt, Germany. 27-28 October 2016},
  year={2017},
  pages={1-9},
  language={eng},
  issn={2194-7791},
  volume={4},
  journal={Molecular and Cellular Pediatrics},
  doi={10.1186/s40348-017-0071-0},
}
@article{UBHD-68436366,
  author={Yakovenko, Vira and Bettendorf, Markus and Hoffmann, Georg F. and Grulich-Henn, J{\"u}rgen},
  title={Risk factors for childhood overweight and obesity in Ukraine and Germany},
  year={2019},
  pages={247-252},
  language={eng},
  issn={1308-5735},
  volume={11},
  number={3},
  note={Gesehen am 08.10.2019},
  journal={Journal of clinical research in pediatric endocrinology},
  doi={10.4274/jcrpe.galenos.2019.2018.0157},
}
@article{UBHD-69107381,
  author={Yıldız, Yılmaz and Kuseyri H{\"u}bschmann, Oya and Akg{\"o}z Karaosmanoğlu, Ayça and Manti, Filippo and Karaca, Meryem and Schwartz, Ida Vanessa and Pons, Roser and López-Laso, Eduardo and Palacios, Natalia Alexandra Julia and Porta, Francesco and Kavecan, Ivana and Balcı, Mehmet Cihan and Dy-Hollins, Marisela E. and Wong, Suet-Na and Oppebøen, Mari and Medeiros, Leonardo Simão and de Paula, Leila Cristina Pedroso and García-Cazorla, Angeles and Hoffmann, Georg F. and Jeltsch, Kathrin and Leuzzi, Vincenzo and G{\"o}kçay, G{\"u}lden and H{\"u}bschmann, Daniel and Harting, Inga and {\"O}z{\"o}n, Z. Alev and Sivri, Serap and Opladen, Thomas},
  title={Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism},
  year={2023},
  pages={1-16},
  language={eng},
  issn={1573-2665},
  note={Gesehen am 08.08.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12658},
  url={https://doi.org/10.1002/jimd.12658},
  library={UB},
}
@article{UBHD-69226050,
  author={Zaunseder, Elaine and M{\"u}tze, Ulrike and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and K{\"o}lker, Stefan and Heuveline, Vincent and Thiele, Ines},
  title={Personalized metabolic whole-body models for newborns and infants predict growth and biomarkers of inherited metabolic diseases},
  year={2024},
  pages={24 S.},
  language={eng},
  issn={1932-7420},
  volume={36},
  note={Online verf{\"u}gbar: 3. Juli 2024, Artikelversion:  6. August 2024 ; Gesehen am 25.06.2024},
  journal={Cell metabolism},
  doi={10.1016/j.cmet.2024.05.006},
}
@article{UBHD-69000475,
  author={Zepp, Fred and Hoffmann, Georg F.},
  title={Stoffwechsel- und Gendiagnostik},
  subtitle={Einf{\"u}hrung zum Thema},
  year={2011},
  pages={813},
  language={ger},
  issn={1433-0474},
  volume={159},
  number={9},
  note={Gesehen am 22.12.2022},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-011-2441-3},
}
@article{UBHD-68373663,
  author={Zielonka, Matthias and Probst, Joris and Carl, Matthias and Hoffmann, Georg F. and K{\"o}lker, Stefan and Okun, J{\"u}rgen G.},
  title={Bioenergetic dysfunction in a zebrafish model of acute hyperammonemic decompensation},
  year={2019},
  pages={91-99},
  language={eng},
  issn={1090-2430},
  volume={314},
  note={Gesehen am 27.03.2019},
  journal={Experimental neurology},
  doi={10.1016/j.expneurol.2019.01.008},
}
@article{UBHD-68295769,
  author={Zielonka, Matthias and Garbade, Sven and K{\"o}lker, Stefan and Hoffmann, Georg F. and Ries, Markus},
  title={Corrigendum: Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis},
  year={2018},
  pages={474},
  language={eng},
  issn={1530-0366},
  volume={20},
  number={4},
  note={Gesehen am 17.08.2018 ; Online publication, 28 September 2017 ; An erratum to this article was published on 09 January 2018 ; The original article was published on 06 April 2017},
  journal={Genetics in medicine},
  doi={10.1038/gim.2017.87},
}
@article{UBHD-68296150,
  author={Zielonka, Matthias and Garbade, Sven and K{\"o}lker, Stefan and Hoffmann, Georg F. and Ries, Markus},
  title={A cross-sectional quantitative analysis of the natural history of Farber disease},
  subtitle={an ultra-orphan condition with rheumatologic and neurological cardinal disease features},
  year={2018},
  pages={524-530},
  language={eng},
  issn={1530-0366},
  volume={20},
  number={5},
  note={Advance online publication 19 October 2017 ; Published: 19 October 2017 ; Gesehen am 16.08.2018},
  journal={Genetics in medicine},
  doi={10.1038/gim.2017.133},
}
@article{UBHD-68381181,
  author={Zielonka, Matthias and Garbade, Sven and K{\"o}lker, Stefan and Hoffmann, Georg F. and Ries, Markus},
  title={A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease},
  subtitle={an ultra-orphan multisystemic lysosomal storage disorder},
  year={2019},
  pages={347-352},
  language={eng},
  issn={1530-0366},
  volume={21},
  number={2},
  note={Published: 06 June 2018 ; Gesehen am 17.04.2019},
  journal={Genetics in medicine},
  doi={10.1038/s41436-018-0051-3},
}
@article{UBHD-68647364,
  author={Zielonka, Matthias and Makhseed, Nawal and Blau, Nenad and Bettendorf, Markus and Hoffmann, Georg F. and Opladen, Thomas},
  title={Dopamine-responsive growth-hormone deficiency and central hypothyroidism in sepiapterin reductase deficiency},
  year={2015},
  pages={109-113},
  language={eng},
  issn={2192-8312},
  volume={24},
  note={Gesehen am 12.10.2020},
  journal={JIMD reports},
  doi={10.1007/8904_2015_450},
}
@article{UBHD-68679924,
  author={Zielonka, Matthias and K{\"o}lker, Stefan and Gleich, Florian and Hoffmann, Georg F. and Garbade, Sven and Posset, Roland},
  title={Early prediction of phenotypic severity in Citrullinemia Type 1},
  year={2019},
  pages={1858-1871},
  language={eng},
  issn={2328-9503},
  volume={6},
  number={9},
  note={Gesehen am 14.01.2021},
  journal={Annals of Clinical and Translational Neurology},
  doi={10.1002/acn3.50886},
  url={https://doi.org/10.1002/acn3.50886},
  library={UB},
}
@article{UBHD-68770235,
  author={Zielonka, Matthias and Garbade, Sven and Gleich, Florian and Okun, J{\"u}rgen G. and Nagamani, Sandesh C. S. and Gropman, Andrea L. and Hoffmann, Georg F. and K{\"o}lker, Stefan and Posset, Roland},
  title={From genotype to phenotype},
  subtitle={early prediction of disease severity in argininosuccinic aciduria},
  year={2020},
  pages={946-960},
  language={eng},
  issn={1098-1004},
  volume={41},
  number={5},
  note={Gesehen am 12.08.2021},
  journal={Human mutation},
  doi={10.1002/humu.23983},
  url={https://doi.org/10.1002/humu.23983},
  library={UB},
}
@article{UBHD-68341018,
  author={Zielonka, Matthias and Breuer, Maximilian and Okun, J{\"u}rgen G. and Carl, Matthias and Hoffmann, Georg F. and K{\"o}lker, Stefan},
  title={Pharmacologic rescue of hyperammonemia-induced toxicity in zebrafish by inhibition of ornithine aminotransferase},
  year={2018},
  pages={24 S.},
  language={eng},
  issn={1932-6203},
  volume={13},
  note={Gesehen am 17.12.2018},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0203707},
  url={http://dx.doi.org/10.1371/journal.pone.0203707},
  library={UB},
}
@article{UBHD-68296094,
  author={Zielonka, Matthias and Garbade, Sven and K{\"o}lker, Stefan and Hoffmann, Georg F. and Ries, Markus},
  title={Quantitative clinical characteristics of 53 patients with MPS VII},
  subtitle={a cross-sectional analysis},
  year={2017},
  pages={983-988},
  language={eng},
  issn={1530-0366},
  volume={19},
  number={9},
  note={Gesehen am 17.08.2018 ; Advance online publication 6 April 2017 ; A corrigendum to this article was published on 28 September 2017},
  journal={Genetics in medicine},
  doi={10.1038/gim.2017.10},
}
@article{UBHD-69322834,
  author={Zielonka, Matthias and K{\"o}lker, Stefan and Garbade, Sven and Gleich, Florian and Nagamani, Sandesh C. S. and Gropman, Andrea L. and Druck, Ann-Catrin and Ramdhouni, Nesrine and G{\"o}de, Laura and Hoffmann, Georg F. and Posset, Roland},
  title={Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders},
  year={2024},
  pages={108566-1-108566-9},
  language={eng},
  issn={1096-7206},
  volume={143},
  note={Gesehen am 27.03.2025},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2024.108566},
}
@article{UBHD-68400595,
  author={Zielonka, Matthias and Garbade, Sven and K{\"o}lker, Stefan and Hoffmann, Georg F. and Ries, Markus},
  title={Ultra-orphan lysosomal storage diseases},
  subtitle={a cross-sectional quantitative analysis of the natural history of alpha-mannosidosis},
  year={2019},
  pages={975-983},
  language={eng},
  issn={1573-2665},
  volume={42},
  number={5},
  note={Gesehen am 30.10.2019},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12138},
}
@article{UBHD-69346282,
  author={Zoch, Michéle and Gierschner, Christian and Andreeff, Anne-Katrin and Henke, Elisa and Sedlmayr, Martin and M{\"u}ller, Gabriele and Tippmann, Jenny and Hebestreit, Helge and Choukair, Daniela and Hoffmann, Georg F. and Fritz-Kebede, Fleur and Toepfner, Nicole and Berner, Reinhard and Biergans, Stephanie Dagmar and Verb{\"u}cheln, Raphael and Schaaf, Jannik and Fleck, Julia and Wirth, Felix Nikolaus and Schepers, Josef and Praßer, Fabian},
  title={Secondary use of patient data within decentralized studies using the example of rare diseases in Germany},
  subtitle={a data scientist's exploration of process and lessons learned},
  year={2024},
  pages={1-11},
  language={eng},
  issn={2055-2076},
  volume={10},
  number={Artikel-ID 20552076241265219},
  note={Online ver{\"o}ffentlicht am 10. August 2024 ; Gesehen am 20.05.2025},
  journal={Digital health},
  doi={10.1177/20552076241265219},
}
@article{UBHD-68901922,
  author={Zschocke, Johannes and Penzien, Johannes M. and Bielen, Rainer and Casals, Núria and Aledo, Rosa and Pié, Juan and Hoffmann, Georg F. and Hegardt, Fausto G. and Mayatepek, Ertan},
  title={The diagnosis of mitochondrial HMG-CoA synthase deficiency},
  year={2002},
  pages={778-780},
  language={eng},
  issn={1097-6833},
  volume={140},
  number={6},
  note={Gesehen am 31.03.2022},
  journal={The journal of pediatrics},
  doi={10.1067/mpd.2002.123854},
}
@article{UBHD-68675904,
  author={Zschocke, Johannes and Preusse, Astrid and Sarnavka, Vladimir and Fumic, Ksenija and Mardešic, Duško and Hoffmann, Georg F. and Baric, Ivo},
  title={The molecular basis of phenylalanine hydroxylase deficiency in Croatia},
  year={2003},
  pages={6 S.},
  language={eng},
  issn={1098-1004},
  volume={21},
  note={Gesehen am 22.12.2020},
  journal={Human mutation},
  doi={10.1002/humu.9115},
}
@article{UBHD-68901943,
  author={Zschocke, Johannes and Schindler, S. and Hoffmann, Georg F. and Albani, Michael},
  title={Nature and nurture in vitamin B12 deficiency},
  year={2002},
  pages={75-76},
  language={eng},
  issn={1468-2044},
  volume={87},
  number={1},
  note={Gesehen am 31.03.2022},
  journal={Archives of disease in childhood},
  doi={10.1136/adc.87.1.75},
}
@book{UBHD-68129673,
  author={Zschocke, Johannes and Hoffmann, Georg F.},
  title={Vademecum metabolicum},
  subtitle={manual of metabolic paediatrics},
  edition={1. ed.},
  publisher={Schattauer},
  address={Stuttgart},
  year={1999},
  pages={111 S.},
  language={eng},
  isbn={3-7945-2039-4 and 978-3-7945-2039-8},
  note={Dt. Orig.-Ausg. unter demselben Titel erschienen},
  keywords={Stoffwechselkrankheit / Angeborene Krankheit},
}
@book{UBHD-65151008,
  author={Zschocke, Johannes and Hoffmann, Georg F. and Bachmann, Claude},
  title={Vademecum metabolicum},
  subtitle={Diagnose und Therapie erblicher Stoffwechselerkrankungen},
  edition={2., {\"u}berarb. und erw. Aufl.},
  publisher={Milupa},
  address={Friedrichsdorf},
  year={1999},
  pages={111 S},
  language={ger},
  isbn={3-7945-2029-7 and 978-3-7945-2029-9},
  note={Engl. Ausg. unter demselben Titel erschienen},
  keywords={Stoffwechselkrankheit / Angeborene Krankheit},
}
@book{UBHD-66720594,
  author={Zschocke, Johannes and Hoffmann, Georg F.},
  title={Vademecum metabolicum},
  subtitle={manual of metabolic paediatrics},
  edition={2. ed.},
  publisher={Schattauer},
  address={Stuttgart},
  year={2004},
  pages={X, 164 S.},
  language={eng},
  isbn={3-7945-2385-7 and 978-3-7945-2385-6},
  note={Dt. Orig.-Ausg. unter demselben Titel erschienen},
  keywords={Stoffwechselkrankheit / Angeborene Krankheit},
}
@book{UBHD-65813910,
  author={Zschocke, Johannes and Hoffmann, Georg F.},
  title={Vademecum metabolicum},
  subtitle={Diagnose und Therapie erblicher Stoffwechselkrankheiten},
  edition={3., vollst. {\"u}berarb. und erw. Aufl.},
  publisher={Schattauer},
  address={[Stuttgart]},
  year={2004},
  pages={164 S.},
  language={ger},
  isbn={3-7945-2375-X and 978-3-7945-2375-7},
  note={Engl. Ausg. unter demselben Titel erschienen},
  keywords={Stoffwechselkrankheit / Angeborene Krankheit},
}
@book{UBHD-67376459,
  author={Zschocke, Johannes and Hoffmann, Georg F.},
  title={Vademecum Metabolicum},
  subtitle={manuel de pédiatrie métabolique},
  publisher={Schattauer},
  address={[Stuttgart]},
  year={2005},
  pages={XIII, 168 S.},
  language={fre},
  isbn={3-7945-2439-X and 978-3-7945-2439-6},
  keywords={Stoffwechselkrankheit / Angeborene Krankheit},
}
@book{UBHD-67406895,
  author={Zschocke, Johannes and Hoffmann, Georg F.},
  title={Vademecum Metabolicum},
  subtitle={manuale pediatrico di malattie metaboliche ereditarie},
  edition={3a ed. italiana},
  publisher={Ed. Medico Scientifiche},
  address={Torino},
  year={2005},
  pages={X, 211 S.},
  language={ita},
  isbn={88-7110-162-6 and 978-88-7110-162-0},
  keywords={Stoffwechselkrankheit / Angeborene Krankheit},
}
@book{UBHD-68129678,
  author={Zschocke, Johannes and Hoffmann, Georg F.},
  title={Vademecum Metabolicum},
  subtitle={diagnosis and treatment of inborn errors of metabolism},
  edition={3rd. rev. ed.},
  publisher={Schattauer},
  address={Stuttgart},
  year={2011},
  pages={X, 174 S.},
  language={eng},
  isbn={978-3-7945-2816-5},
  series={Milupa metabolics},
  keywords={Stoffwechselkrankheit / Angeborene Krankheit},
}
@book{UBHD-67594663,
  author={Zschocke, Johannes and Hoffmann, Georg F.},
  title={Vademecum Metabolicum},
  subtitle={Diagnose und Therapie erblicher Stoffwechselkrankheiten; 40 Tabellen},
  edition={4., vollst{\"a}ndig {\"u}berarb. und erw. Aufl.},
  publisher={Schattauer},
  address={Stuttgart},
  year={2012},
  pages={X, 742 S.},
  language={ger},
  isbn={978-3-7945-2815-8},
  keywords={Stoffwechselkrankheit / Angeborene Krankheit},
}
@book{UBHD-68129685,
  author={Zschocke, Johannes and Hoffmann, Georg F.},
  title={Vademecum Metabolicum},
  subtitle={Diagnostic et Traitement des Maladies Héréditaires du Métabolisme},
  edition={2ème édition},
  publisher={Schattauer},
  address={[Stuttgart]},
  year={2017},
  pages={X, 173 Seiten},
  language={fre},
  isbn={978-3-7945-3238-4 and 3-7945-3238-4},
  keywords={Stoffwechselkrankheit / Angeborene Krankheit},
}
@article{UBHD-69145675,
  author={Zumbaum-Fischer, Franziska and Hartmann, Mechthild and Kotzaeridou, Urania and Heyer, Anne and Resch, Franz and Hoffmann, Georg F. and Friederich, Hans-Christoph},
  title={Die Interdisziplin{\"a}re Familienmedizinische Sprechstunde in der Kinderheilkunde - ein integrativer Ansatz f{\"u}r komplex belastete Familien mit einem chronisch kranken Kind},
  year={2023},
  pages={510-515},
  language={ger},
  issn={1439-1058},
  volume={73},
  number={12},
  note={Artikel online ver{\"o}ffentlicht: 14. September 2023 ; Gesehen am 23.11.2023},
  journal={Psychotherapie, Psychosomatik, medizinische Psychologie},
  doi={10.1055/a-2136-7397},
}
@article{UBHD-68299998,
  author={Zwickler, Tamaris and Haege, Gisela and Riderer, Alina and H{\"o}rster, Friederike and Hoffmann, Georg F. and Burgard, Peter and K{\"o}lker, Stefan},
  title={Metabolic decompensation in methylmalonic aciduria},
  subtitle={which biochemical parameters are discriminative?},
  year={2012},
  pages={797-806},
  language={eng},
  issn={1573-2665},
  volume={35},
  number={5},
  note={Gesehen am 29.08.2018},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-011-9426-1},
}
@article{UBHD-67579286,
  author={Zwickler, Tamaris and Riderer, Alina and Haege, Gisela and Hoffmann, Georg F. and K{\"o}lker, Stefan and Burgard, Peter},
  title={Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia},
  year={2014},
  pages={31-37},
  language={eng},
  issn={1573-2665},
  volume={37},
  number={1},
  note={Gesehen am 08.05.2014},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-013-9621-3},
}