@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-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-68463207,
  author={Behringer, Sidney and Wingert, Victoria and Oria, Victor and Schumann, Anke and Gr{\"u}nert, Sarah and Cieslar-Pobuda, Artur and K{\"o}lker, Stefan and Lederer, Ann-Kathrin and Jacobsen, Donald W. and Staerk, Judith and Schilling, Oliver and Spiekerk{\"o}tter, Ute and Hannibal, Luciana},
  title={Targeted metabolic profiling of methionine cycle metabolites and redox thiol pools in mammalian plasma, cells and urine},
  year={2019},
  pages={27 S.},
  language={eng},
  issn={2218-1989},
  volume={9(2019},
  note={Gesehen am 03.12.2019},
  journal={Metabolites},
  doi={10.3390/metabo9100235},
}
@article{UBHD-69272299,
  author={Betzler, Isabel R. and Hempel, Maja and M{\"u}tze, Ulrike and K{\"o}lker, Stefan and Winkler, Eva C. and Dikow, Nicola and Garbade, Sven and Schaaf, Christian P. and Brennenstuhl, Heiko},
  title={Comparative analysis of gene and disease selection in genomic newborn screening studies},
  year={2024},
  pages={945-970},
  language={eng},
  issn={1573-2665},
  volume={47},
  number={5 vom: Sept.},
  note={Ver{\"o}ffentlicht: 16 May 2024 ; Gesehen am 11.11.2024},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12750},
}
@article{UBHD-69356597,
  author={Betzler, Isabel R. and Hempel, Maja and M{\"u}tze, Ulrike and K{\"o}lker, Stefan and Winkler, Eva C. and Dikow, Nicola and Garbade, Sven and Schaaf, Christian P. and Brennenstuhl, Heiko},
  title={Response to Downie et al.},
  year={2025},
  pages={1-2},
  language={eng},
  issn={1573-2665},
  volume={48},
  note={Online ver{\"o}ffentlicht: 14 Januar 2025 ; Gesehen am 16.06.2025},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12837},
}
@article{UBHD-68626401,
  author={Bezerra, Gustavo A. and Foster, William R. and Bailey, Henry J. and Hicks, Kevin G. and Sauer, Sven and Dimitrov, Bianca and McCorvie, Thomas J. and Okun, J{\"u}rgen G. and Rutter, Jared and K{\"o}lker, Stefan and Yue, Wyatt W.},
  title={Crystal structure and interaction studies of human DHTKD1 provide insight into a mitochondrial megacomplex in lysine catabolism},
  year={2020},
  pages={693-706},
  language={eng},
  issn={2052-2525},
  volume={7},
  note={Gesehen am 11.08.2020},
  journal={IUCrJ},
  doi={10.1107/S205225252000696X},
}
@article{UBHD-68263860,
  author={Biagosch, Caroline and K{\"o}lker, Stefan and Sauer, Sven},
  title={Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism},
  year={2017},
  pages={2220-2228},
  language={eng},
  issn={1879-260X},
  volume={1863},
  number={9},
  note={Available online 22 May 2017 ; Gesehen am 21.06.2018},
  journal={Biochimica et biophysica acta},
  doi={10.1016/j.bbadis.2017.05.018},
}
@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-68114432,
  author={Boy, Nikolas and Heringer-Seifert, Jana and Seitz, Angelika and K{\"o}lker, Stefan and Harting, Inga},
  title={Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity},
  year={2017},
  language={eng},
  issn={1750-1172},
  volume={12(2017) Artikel-Nummer 77},
  number={13 Seiten},
  note={Gesehen am 281.04.2017},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-017-0612-6},
  url={http://dx.doi.org/10.1186/s13023-017-0612-6},
  library={UB},
}
@book{UBHD-68113351,
  author={Boy, Nikolas and Heringer-Seifert, Jana and Seitz, Angelika and K{\"o}lker, Stefan and Harting, Inga},
  title={Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity},
  publisher={BioMed Central},
  address={London},
  year={2017},
  pages={1 Online-Ressource (13 Seiten)},
  language={eng},
  note={Aus: Orphanet Journal of Rare Diseases, 12 (2017), Nr. 77. pp. 1-13. ISSN 1750-1172},
  doi={10.1186/s13023-017-0612-6},
  url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-228746},
  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-68408602,
  author={Boy, Nikolas and Garbade, Sven and Heringer-Seifert, Jana and Seitz, Angelika and K{\"o}lker, Stefan and Harting, Inga},
  title={Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1},
  year={2019},
  pages={117-127},
  language={eng},
  issn={1573-2665},
  volume={42},
  number={1},
  note={Gesehen am 15.07.2019},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12033},
}
@book{UBHD-68447579,
  author={Boy, Nikolas and Garbade, Sven and Heringer-Seifert, Jana and Seitz, Angelika and K{\"o}lker, Stefan and Harting, Inga},
  title={Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1},
  year={2019},
  pages={117-127},
  language={eng},
  issn={1573-2665},
  note={Gesehen am 29.10.2019},
  doi={10.1002/jimd.12033},
}
@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-69106990,
  author={Boy, Nikolas and Mohr, Alexander and Garbade, Sven and Freisinger, Peter and Heringer-Seifert, Jana and Seitz, Angelika and K{\"o}lker, Stefan and Harting, Inga},
  title={Subdural hematoma in glutaric aciduria type 1},
  subtitle={high excreters are prone to incidental SDH despite newborn screening},
  year={2021},
  pages={1343-1352$10},
  language={eng},
  issn={1573-2665},
  volume={44},
  number={6},
  note={Gesehen am 07.08.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12436},
  url={https://doi.org/10.1002/jimd.12436},
  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-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-68388373,
  author={B{\"u}rger, Corinna and Garbade, Sven and K{\"o}lker, Stefan and Burgard, Peter},
  title={Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events},
  year={2019},
  pages={243-253},
  language={eng},
  issn={1573-2665},
  volume={42},
  number={2},
  note={First published: 27 December 2018 ; Gesehen am 09.05.2019},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12013},
}
@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-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-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-69032572,
  author={Dello Strologo, Luca and Spada, Marco and Vici, Carlo Dionisi and Atti, Marta Ciofi Degli and Rheault, Michelle and Bjerre, Anna Kristina and Boyer, Olivia and Calvo, Pier Luigi and D'Antiga, Lorenzo and Harshman, Lyndsay A. and H{\"o}rster, Friederike and K{\"o}lker, Stefan and Jahnukainen, Timo and Knops, Noël and Krug, Pauline and Krupka, Kai and Lee, Angela and Levtchenko, Elena and Marks, Stephen D. and Stojanovic, Jelena and Martelli, Laura and Mazariegos, George and Montini, Giovanni and Shenoy, Mohan and Sidhu, Sangeet and Spada, Marco and Tangeras, Trine and Testa, Sara and Vijay, Suresh and Wac, Katarzyna and Wennberg, Lars and Concepcion, Waldo and Garbade, Sven and T{\"o}nshoff, Burkhard},
  title={Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia},
  subtitle={a multicenter analysis},
  year={2022},
  pages={265-272},
  language={eng},
  issn={1096-7206},
  volume={137},
  number={3 vom: Nov.},
  note={Gesehen am 01.02.2023},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2022.09.010},
}
@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-68704953,
  author={Dimitrov, Bianca and Molema, Femke and Williams, Monique and Schmiesing, Jessica and M{\"u}hlhausen, Chris and Baumgartner, Matthias R. and Schumann, Anke and K{\"o}lker, Stefan},
  title={Organic acidurias},
  subtitle={major gaps, new challenges, and a yet unfulfilled promise},
  year={2021},
  pages={9-21},
  language={eng},
  issn={1573-2665},
  volume={44},
  number={1},
  note={First published: 15 May 2020 ; Gesehen am 01.03.2021},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12254},
  url={https://doi.org/https://doi.org/10.1002/jimd.12254},
  library={UB},
}
@article{UBHD-69338859,
  author={Doll, Elena Sophia and Lerch, Seraina Petra and Schmalenberger, Katja and Alex, Karla and K{\"o}lker, Stefan and Brennenstuhl, Heiko and Pereira, Stacey and Smith, Hadley S. and Winkler, Eva C. and Mahal, Julia and Ditzen, Beate},
  title={How do parents decide on genetic testing in pediatrics?},
  subtitle={A systematic review},
  year={2025},
  pages={1-14},
  language={eng},
  issn={1530-0366},
  volume={27},
  note={Online verf{\"u}gbar: 19. Februar 2025 ; Gesehen am 24.04.2025},
  journal={Genetics in medicine},
  doi={10.1016/j.gim.2025.101390},
}
@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-68711529,
  author={Ebrahimi-Fakhari, Darius and Saffari, Afshin and Ziegler, Andreas and K{\"o}lker, Stefan},
  title={Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia},
  year={2020},
  pages={2929-2944},
  language={eng},
  issn={1460-2156},
  volume={143},
  number={10 vom: Okt.},
  note={Gesehen am 11.03.2021},
  journal={Brain},
  doi={10.1093/brain/awz307},
}
@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-68186430,
  author={Ebrahimi-Fakhari, Darius and Saffari, Afshin and Wahlster, Lara and K{\"o}lker, Stefan},
  title={Impaired mitochondrial dynamics and mitophagy in neuronal models of tuberous sclerosis complex},
  year={2016},
  pages={1053-1070},
  language={eng},
  issn={2211-1247},
  volume={17},
  number={4},
  note={Gesehen am 06.11.2017},
  journal={Cell reports},
  doi={10.1016/j.celrep.2016.09.054},
}
@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-68319623,
  author={Evers, Christina and Staufner, Christian and Granzow, Martin and Paramasivam, Nagarajan and Hinderhofer, Katrin and Kaufmann, Lilian 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-69100903,
  author={Galy, Bruno and Ferring-Appel, Dunja and Sauer, Sven and Kaden, Sylvia and Lyoumi, Saïd and Puy, Herve and K{\"o}lker, Stefan and Gr{\"o}ne, Hermann-Josef and Hentze, Matthias W.},
  title={Iron regulatory proteins secure mitochondrial iron sufficiency and function},
  year={2010},
  pages={194-201},
  language={eng},
  issn={1932-7420},
  volume={12},
  number={2 vom: Aug.},
  note={Gesehen am 25.07.2023},
  journal={Cell metabolism},
  doi={10.1016/j.cmet.2010.06.007},
}
@article{UBHD-68467201,
  author={Garbade, Sven and Boy, Nikolas and Heringer-Seifert, Jana and K{\"o}lker, Stefan and Harting, Inga},
  title={Age-related changes and reference values of bicaudate ratio and sagittal brainstem diameters on MRI},
  year={2018},
  pages={269-275},
  language={eng},
  issn={1439-1899},
  volume={49},
  number={04},
  note={Gesehen am 12.12.2019},
  journal={Neuropediatrics},
  doi={10.1055/s-0038-1660475},
}
@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-67953400,
  author={Garbade, Sven and Burgard, Peter and K{\"o}lker, Stefan},
  title={Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models},
  subtitle={a cohort study in 180 patients},
  year={2014},
  pages={763-773},
  language={eng},
  issn={1573-2665},
  volume={37},
  number={5},
  note={Gesehen am 09.03.2016},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-014-9676-9},
}
@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-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-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-68263925,
  author={Gr{\"u}nert, Sarah and K{\"o}lker, Stefan},
  title={3-methylcrotonyl-CoA carboxylase deficiency},
  subtitle={clinical, biochemical, enzymatic and molecular studies in 88 individuals},
  year={2012},
  language={eng},
  issn={1750-1172},
  volume={7(2012) Artikel-Nr. 31},
  number={24 S.},
  note={Published: 29 May 2012 ; Gesehen am 21.06.2018},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/1750-1172-7-31},
}
@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-68301545,
  author={Habarou, Florence and Haack, Tobias and Nitschke, Patrick and K{\"o}lker, Stefan and Korenke, Christoph and Marquardt, Iris},
  title={Biallelic mutations in LIPT2 cause a mitochondrial lipoylation defect associated with severe neonatal encephalopathy},
  year={2017},
  pages={283-290},
  language={eng},
  issn={1537-6605},
  volume={101},
  number={2},
  note={Available online 27 July 2017 ; Gesehen am 03.09.2018},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2017.07.001},
}
@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-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-68068842,
  author={Harting, Inga and Boy, Nikolas and Heringer-Seifert, Jana and Seitz, Angelika and Bendszus, Martin and K{\"o}lker, Stefan},
  title={1 H-MRS in glutaric aciduria type 1},
  subtitle={impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites},
  year={2015},
  pages={829-838},
  language={eng},
  issn={1573-2665},
  volume={38},
  number={5},
  note={Gesehen am 03.01.2017 ; Im Titel ist "1" in 1 H-MRS hochgestellt},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-015-9826-8},
}
@article{UBHD-68562480,
  author={Heard, Jean-Michel and K{\"o}lker, Stefan},
  title={Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network},
  year={2020},
  pages={1-10},
  language={eng},
  issn={1750-1172},
  volume={15},
  number={Artikel-ID 3},
  note={Gesehen am 07.04.2020},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-019-1280-5},
}
@article{UBHD-68403473,
  author={Heard, Jean-Michel and Bellettato, Cinzia and K{\"o}lker, Stefan},
  title={Research activity and capability in the European reference network MetabERN},
  year={2019},
  pages={1-9},
  language={eng},
  issn={1750-1172},
  volume={14},
  number={Artikel-ID 119},
  note={Gesehen am 02.07.2019},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-019-1091-8},
}
@article{UBHD-68443719,
  author={Heringer-Seifert, Jana and Burgard, Peter and K{\"o}lker, Stefan},
  title={Impact of age at onset and newborn screening on outcome in organic acidurias},
  year={2016},
  pages={341-353},
  language={eng},
  issn={1573-2665},
  volume={39},
  number={3},
  note={Published online: 21 December 2015 ; Gesehen am 22.10.2019},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-015-9907-8},
}
@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-68819355,
  author={H{\"o}rster, Friederike and Tuncel, Ali Tunç and Gleich, Florian and Plessl, Tanja and Froese, Sean D. and Garbade, Sven and K{\"o}lker, Stefan and Baumgartner, Matthias R.},
  title={Delineating the clinical spectrum of isolated methylmalonic acidurias},
  subtitle={cblA and mut},
  year={2021},
  pages={193-214},
  language={eng},
  issn={1573-2665},
  volume={44},
  number={1},
  note={First published: 05 August 2020 ; Gesehen am 13.12.2021},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12297},
  url={https://doi.org/10.1002/jimd.12297},
  library={UB},
}
@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-68669836,
  author={Illsinger, Sabine and Korenke, Christoph and Boesch, Sylvia and Nocker, Michael and Karall, Daniela and Nuoffer, Jean M. and Laugwitz, Lucia and Mayr, Johannes A. and Scholl-B{\"u}rgi, Sabine and Freisinger, Peter and Kowald, Tobias and K{\"o}lker, Stefan and Prokisch, Holger and Haack, Tobias B.},
  title={Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants},
  subtitle={expanding the neurological spectrum and therapeutic approaches},
  year={2020},
  pages={8 S.},
  language={eng},
  issn={1878-0849},
  volume={63(2020},
  note={Gesehen am 07.12.2020},
  journal={European journal of medical genetics},
  doi={10.1016/j.ejmg.2020.104046},
}
@article{UBHD-68445729,
  author={Imle, Roland and Carl, Matthias and Himmelreich, Nastassja and Thiel, Christian and Gr{\"o}ne, Hermann-Josef and Poschet, Gernot and V{\"o}lkers, Mirko and G{\"u}low, Karsten and K{\"o}lker, Stefan and Sauer, Sven},
  title={ADP-dependent glucokinase regulates energy metabolism via ER-localized glucose sensing},
  year={2019},
  pages={12 S.},
  language={eng},
  issn={2045-2322},
  volume={9(2019) Artikel-Nummer 14248},
  number={12 Seiten},
  note={Gesehen am 25.10.2019},
  journal={Scientific reports},
  doi={10.1038/s41598-019-50566-6},
}
@article{UBHD-68572302,
  author={Jamiolkowski, Dagmar and K{\"o}lker, Stefan and Glahn, Esther M. and Barić, Ivo and Zeman, Jiri and Baumgartner, Matthias R. and M{\"u}hlhausen, Chris and Garcia‐Cazorla, Angels and Gleich, Florian and Haege, Gisela and Burgard, Peter},
  title={Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders},
  year={2016},
  pages={231-241},
  language={eng},
  issn={1573-2665},
  volume={39},
  number={2},
  note={Published online: 27 August 2015 ; Gesehen am 30.04.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-015-9887-8},
}
@article{UBHD-68447592,
  author={Keller, Rebecca and K{\"o}lker, Stefan and Gramer, Gwendolyn and Okun, J{\"u}rgen G. and Gleich, Florian},
  title={Newborn screening for homocystinurias},
  subtitle={recent recommendations versus current practice},
  year={2019},
  pages={128-139},
  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.12034},
}
@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-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-68714967,
  author={K{\"o}lker, Stefan and Burgard, Peter and Sauer, Sven and Okun, J{\"u}rgen G.},
  title={Current concepts in organic acidurias},
  subtitle={understanding intra- and extracerebral disease manifestation},
  year={2013},
  pages={635-644},
  language={eng},
  issn={1573-2665},
  volume={36},
  number={4},
  note={Gesehen am 15.12.2021},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-013-9600-8},
}
@article{UBHD-68032810,
  author={K{\"o}lker, Stefan and Gleich, Florian and Haege, Gisela and Staufner, Christian and Burgard, Peter},
  title={Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders},
  subtitle={part 1 : the initial presentation},
  year={2015},
  pages={1155-1156},
  language={eng},
  issn={1573-2665},
  volume={38},
  number={6},
  note={Gesehen am 27.09.2016},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-015-9867-z},
}
@article{UBHD-68032823,
  author={K{\"o}lker, Stefan and Boy, Nikolas and Burgard, Peter and Gleich, Florian and H{\"o}rster, Friederike and Haege, Gisela},
  title={Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders},
  subtitle={part 2 : the evolving clinical phenotype},
  year={2015},
  pages={1157-1158},
  language={eng},
  issn={1573-2665},
  volume={38},
  number={6},
  note={Gesehen am 27.09.2016},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-015-9868-y},
}
@book{UBHD-66261523,
  author={K{\"o}lker, Stefan},
  title={Glutarazidurie Typ I und Methylmalonazidurie},
  subtitle={Mechanismus und Pr{\"a}vention der zerebralen Sch{\"a}digung},
  year={2006},
  pages={Getr. Z{\"a}hlung},
  language={ger and eng},
  note={Enth{\"a}lt Zeitschriftenaufs{\"a}tze. - Teilw. dt., teilw. engl},
  school={Heidelberg, Univ., Habil.-Schr., 2006},
  library={UB [Signatur: 2007 U 145]},
}
@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-68462492,
  author={K{\"o}lker, Stefan},
  title={Metabolism of amino acid neurotransmitters},
  subtitle={the synaptic disorder underlying inherited metabolic diseases},
  year={2018},
  pages={1055-1063},
  language={eng},
  issn={1573-2665},
  volume={41},
  number={6},
  note={Gesehen am 02.12.2019},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-018-0201-4},
}
@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-68032790,
  author={K{\"o}lker, Stefan and Gleich, Florian and Haege, Gisela and Staufner, Christian and Burgard, Peter},
  title={The phenotypic spectrum of organic acidurias and urea cycle disorders},
  subtitle={part 1: the initial presentation},
  year={2015},
  pages={1041-1057},
  language={eng},
  issn={1573-2665},
  volume={38},
  number={6},
  note={Gesehen am 27.09.2016},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-015-9839-3},
}
@article{UBHD-68032800,
  author={K{\"o}lker, Stefan and Boy, Nikolas and Burgard, Peter and Gleich, Florian and H{\"o}rster, Friederike and Haege, Gisela},
  title={The phenotypic spectrum of organic acidurias and urea cycle disorders},
  subtitle={part 2 : the evolving clinical phenotype},
  year={2015},
  pages={1059-1074},
  language={eng},
  issn={1573-2665},
  volume={38},
  number={6},
  note={Gesehen am 27.09.2016},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-015-9840-x},
}
@article{UBHD-68916157,
  author={K{\"o}lker, Stefan and Gleich, Florian and M{\"u}tze, Ulrike and Opladen, Thomas},
  title={Rare disease registries are key to evidence-based personalized medicine},
  subtitle={highlighting the european experience},
  year={2022},
  pages={1-11},
  language={eng},
  issn={1664-2392},
  volume={13},
  number={Artikel-ID 832063},
  note={Gesehen am 31.05.2022},
  journal={Frontiers in endocrinology},
  url={https://www.frontiersin.org/article/10.3389/fendo.2022.832063},
  library={UB},
}
@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-68320644,
  author={Komatsuzaki, Shoko and Ediga, Raga and Okun, J{\"u}rgen G. and K{\"o}lker, Stefan and Sauer, Sven},
  title={Impairment of astrocytic glutaminolysis in glutaric aciduria type I},
  year={2018},
  pages={91-99},
  language={eng},
  issn={1573-2665},
  volume={41},
  number={1},
  note={First online: 02 November 2017 ; Gesehen am 24.10.2018},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-017-0096-5},
}
@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-69141391,
  author={Kožich, Viktor and Sokolová, Jitka and Morris, Andrew A. M. and Pavlíková, Markéta and Gleich, Florian and K{\"o}lker, Stefan and Krijt, Jakub and Dionisi-Vici, Carlo and Baumgartner, Matthias R. and Blom, Henk J. and Huemer, Martina},
  title={Cystathionine β-synthase deficiency in the E-HOD registry-part I},
  subtitle={pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis},
  year={2021},
  pages={677-692},
  language={eng},
  issn={1573-2665},
  volume={44},
  number={3},
  note={Online published: 09 December 2020 ; Gesehen am 09.11.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12338},
}
@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-68561827,
  author={Luciani, Alessandro and Schumann, Anke and Berquez, Marine and Chen, Zhiyong and Nieri, Daniela and Failli, Mario and Debaix, Huguette and Festa, Beatrice Paola and Tokonami, Natsuko and Raimondi, Andrea and Cremonesi, Alessio and Carrella, Diego and Forny, Patrick and K{\"o}lker, Stefan and Camassei, Francesca Diomedi and Diaz, Francisca and Moraes, Carlos T. and Bernardo, Diego Di and Baumgartner, Matthias R. and Devuyst, Olivier},
  title={Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency},
  year={2020},
  pages={21 S.},
  language={eng},
  issn={2041-1723},
  volume={11(2020) Artikel-Nummer 970},
  number={21 Seiten},
  note={Gesehen am 06.04.2020},
  journal={Nature Communications},
  doi={10.1038/s41467-020-14729-8},
}
@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-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-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-68538863,
  author={Molema, Femke and Gleich, Florian and Burgard, Peter and van der Ploeg, Ans T. and Summar, Marshall L. and Chapman, Kimberly A. and Barić, Ivo and Lund, Allan M. and K{\"o}lker, Stefan and Williams, Monique},
  title={Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders},
  subtitle={on the basis of information from a European multicenter registry},
  year={2019},
  pages={1162-1175},
  language={eng},
  issn={1573-2665},
  volume={42},
  number={6},
  note={Gesehen am 18.03.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12066},
}
@article{UBHD-69242166,
  author={Molema, Femke and Martinelli, Diego and H{\"o}rster, Friederike and K{\"o}lker, Stefan and Tangeraas, Trine and Koning, Barbara de and Dionisi-Vici, Carlo and Williams, Monique},
  title={Liver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism},
  subtitle={an overview on European data},
  year={2021},
  pages={593-605},
  language={eng},
  issn={1573-2665},
  volume={44},
  number={3 vom: Mai},
  note={"First published: 30 September 2020".- Frontdoor des Artikels ; Gesehen am 12.08.2024},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12318},
}
@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-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-68983038,
  author={M{\"u}tze, Ulrike and Mengler, Katharina and Boy, Nikolas and Gleich, Florian and Opladen, Thomas and Garbade, Sven and K{\"o}lker, Stefan},
  title={How longitudinal observational studies can guide screening strategy for rare diseases},
  year={2022},
  pages={889-901},
  language={eng},
  issn={1573-2665},
  volume={45},
  number={5},
  note={Gesehen am 08.11.2022},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12508},
  url={https://doi.org/10.1002/jimd.12508},
  library={UB},
}
@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-68570482,
  author={Muhle-Goll, Claudia and K{\"o}lker, Stefan and T{\"o}nshoff, Burkhard and Fichtner, Alexander and Westhoff, Jens},
  title={Urinary NMR profiling in pediatric acute kidney injury},
  subtitle={a pilot study},
  year={2020},
  pages={16 S.},
  language={eng},
  issn={1422-0067 and 1661-6596},
  volume={21(2020},
  note={Gesehen am 27.04.2020},
  journal={International journal of molecular sciences},
  doi={10.3390/ijms21041187},
  url={https://doi.org/10.3390/ijms21041187},
  library={UB},
}
@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-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-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-69043443,
  author={Opladen, Thomas and Gleich, Florian and Kozich, Viktor and Scarpa, Maurizio and Martinelli, Diego and Schaefer, Franz and Jeltsch, Kathrin and Juliá-Palacios, Natalia and García-Cazorla, Ángels and Dionisi-Vici, Carlo and K{\"o}lker, Stefan},
  title={U-IMD},
  subtitle={the first Unified European registry for inherited metabolic diseases},
  year={2021},
  pages={1-10},
  language={eng},
  issn={1750-1172},
  volume={16},
  number={Artikel-ID 95},
  note={Gesehen am 20.02.2023},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-021-01726-3},
  url={https://doi.org/10.1186/s13023-021-01726-3},
  library={UB},
}
@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-69121055,
  author={P{\"o}schl, Johannes and K{\"o}lker, Stefan and Bast, Thomas and Br{\"u}ssau, J{\"u}rgen and Ruef, Peter and Linderkamp, Otwin and Bettendorf, Markus},
  title={Gamma-Hydroxybutyric Acid Sedation in Neonates and Children Undergoing MR Imaging},
  year={2007},
  pages={217-219},
  language={eng},
  issn={1439-3824},
  volume={219},
  number={04},
  note={Gesehen am 12.09.2023},
  journal={Klinische P{\"a}diatrie},
  doi={10.1055/s-2007-973056},
}
@article{UBHD-68221136,
  author={Posset, Roland and Burgard, Peter and K{\"o}lker, Stefan},
  title={Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders},
  year={2016},
  pages={661-672},
  language={eng},
  issn={1573-2665},
  volume={39},
  number={5},
  note={Gesehen am 16.02.2018},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-016-9938-9},
}
@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-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-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-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-67664012,
  author={R{\"u}egger, Corinne M. and Lindner, Martin and K{\"o}lker, Stefan and Staufner, Christian and Burgard, Peter},
  title={Cross-sectional observational study of 208 patients with non-classical urea cycle disorders},
  year={2014},
  pages={21-30},
  language={eng},
  issn={1573-2665},
  volume={37},
  number={1},
  note={Gesehen am 21.08.2014},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-013-9624-0},
}
@article{UBHD-67998163,
  author={Ruppert, Thomas and Okun, J{\"u}rgen G. and K{\"o}lker, Stefan and Morath, Marina and Sauer, Sven},
  title={Molecular and biochemical alterations in tubular epithelial cells of patients with isolated methylmalonic aciduria},
  year={2015},
  pages={7049-7059},
  language={eng},
  issn={1460-2083},
  volume={24},
  number={24},
  note={Gesehen am 21.06.2016},
  journal={Human molecular genetics},
  doi={10.1093/hmg/ddv405},
}
@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-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-69107415,
  author={Sauer, Sven and Opp, Silvana and Schumann, Anke and Okun, J{\"u}rgen G. and K{\"o}lker, Stefan and Morath, Marina},
  title={Erratum to: Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic acidurias},
  year={2010},
  pages={93},
  language={eng},
  issn={1573-2665},
  volume={33},
  number={1},
  note={Gesehen am 08.08.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-010-9064-z},
}
@article{UBHD-68109405,
  author={Sauer, Sven and Opp, Silvana and Mahringer, Anne and Kamiński, Marcin and Thiel, Christian and Okun, J{\"u}rgen G. and Fricker, Gert and Morath, Marina and K{\"o}lker, Stefan},
  title={Glutaric aciduria type I and methylmalonic aciduria},
  subtitle={simulation of cerebral import and export of accumulating neurotoxic dicarboxylic acids in in vitro models of the blood-brain barrier and the choroid plexus},
  year={2010},
  pages={552-560},
  language={eng},
  issn={1879-260X},
  volume={1802},
  number={6},
  note={Gesehen am 12.04.2017},
  journal={Biochimica et biophysica acta},
  doi={10.1016/j.bbadis.2010.03.003},
}
@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-69107445,
  author={Sauer, Sven and Opp, Silvana and Schumann, Anke and Okun, J{\"u}rgen G. and K{\"o}lker, Stefan and Morath, Marina},
  title={Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic acidurias},
  year={2009},
  pages={720-727},
  language={eng},
  issn={1573-2665},
  volume={32},
  number={6},
  note={Gesehen am 08.08.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-009-1197-6},
}
@article{UBHD-68132865,
  author={Sauer, Sven and Opp, Silvana and Komatsuzaki, Shoko and Burgard, Peter and Okun, J{\"u}rgen G. and K{\"o}lker, Stefan},
  title={Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I},
  year={2015},
  pages={768-777},
  language={eng},
  issn={1879-260X},
  volume={1852},
  number={5},
  note={Gesehen am 30.06.2017},
  journal={Biochimica et biophysica acta},
  doi={10.1016/j.bbadis.2014.12.022},
}
@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-68929644,
  author={Scharping, Mara and Brennenstuhl, Heiko and Garbade, Sven and Wild, Beate and Posset, Roland and Zielonka, Matthias and K{\"o}lker, Stefan and Haun, Markus W. and Opladen, Thomas},
  title={Unmet needs of parents of children with Urea Cycle disorders},
  year={2022},
  pages={1-15},
  language={eng},
  issn={2227-9067},
  volume={9},
  note={Gesehen am 10.06.2022},
  journal={Children},
  doi={10.3390/children9050712},
  url={https://doi.org/10.3390/children9050712},
  library={UB},
}
@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-68283270,
  author={Sch{\"o}nberger, Jan and M{\"o}hlenbruch, Markus Alfred and Seitz, Angelika and Bußmann, Cornelia and B{\"a}chli, Heidi and K{\"o}lker, Stefan},
  title={Chiari-like displacement due to spontaneous intracranial hypotension in an adolescent},
  subtitle={successful treatment by epidural blood patch},
  year={2017},
  pages={678-681},
  language={eng},
  issn={1532-2130},
  volume={21},
  number={4},
  note={Gesehen am 06.07.2018},
  journal={European journal of paediatric neurology},
  doi={10.1016/j.ejpn.2017.02.004},
}
@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-69090716,
  author={Schumann, Anke and Brutsche, Marion and Havermans, Monique and Gr{\"u}nert, Sarah and K{\"o}lker, Stefan and Groß, Olaf and Hannibal, Luciana and Spiekerk{\"o}tter, Ute},
  title={The impact of metabolic stressors on mitochondrial homeostasis in a renal epithelial cell model of methylmalonic aciduria},
  year={2023},
  pages={1-15},
  language={eng},
  issn={2045-2322},
  volume={13(2023) vom: Mai},
  number={Artikel-ID 7677},
  note={Gesehen am 28.06.2023},
  journal={Scientific reports},
  doi={10.1038/s41598-023-34373-8},
}
@article{UBHD-68687304,
  author={Schumann, Anke and K{\"o}lker, Stefan},
  title={Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria},
  subtitle={a 42-year follow-up},
  year={2013},
  pages={472-476},
  language={eng},
  issn={1096-7206},
  volume={110},
  number={4},
  note={Gesehen am 10.02.2021},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2013.08.021},
}
@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-69354815,
  author={Servais, Aude and Zacchia, Miriam and Dehoux, Laurène and Shroff, Rukshana and Brassier, Anais and Taurisano, Roberta and K{\"o}lker, Stefan and Oh, Jun and Ariceta, Gema and Stojanovic, Jelena and H{\"o}rster, Friederike and Strologo, Dello and Spada, Marco and Schiff, Manuel and Dionisi-Vici, Carlo},
  title={Clinical practice recommendations on kidney management in methylmalonic acidemia},
  subtitle={an expert consensus statement from ERKNet and MetabERN},
  year={2024},
  pages={3362-3374},
  language={eng},
  issn={2468-0249},
  volume={9},
  number={12 vom: Dez.},
  note={Online verf{\"u}gbar: 6. September 2024, Artikelversion: 3. Dezember 2024 ; Gesehen am 10.06.2025},
  journal={Kidney international},
  doi={10.1016/j.ekir.2024.09.002},
}
@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-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-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-68899305,
  author={Summar, Marshall L. and K{\"o}lker, Stefan and Freedenberg, Debra and Le Mons, Cynthia and Haberle, Johannes and Lee, Hye-Seung and Kirmse, Brian},
  organization={The European registry and network for Intoxication type Metabolic Diseases},
  title={The incidence of urea cycle disorders},
  year={2013},
  pages={179-180},
  language={eng},
  issn={1096-7206},
  volume={110},
  number={1/2 vom: Sept./Okt.},
  note={Gesehen am 24.03.2022},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2013.07.008},
}
@article{UBHD-67891470,
  author={Summar, Marshall L. and Endo, Fumio and K{\"o}lker, Stefan},
  title={On the creation, utility and sustaining of rare diseases research networks},
  subtitle={lessons learned from the Urea Cycle Disorders Consortium, the Japanese Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases},
  year={2014},
  pages={105-108},
  language={eng},
  issn={1096-7206},
  volume={113},
  number={1},
  note={Gesehen am 24.10.2015},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2014.09.002},
}
@article{UBHD-68647907,
  author={Tandon, Amol and Birkenhagen, Jana and Nagalla, Deepthi and K{\"o}lker, Stefan and Sauer, Sven},
  title={ADP-dependent glucokinase as a novel onco-target for haematological malignancies},
  year={2020},
  pages={16 S.},
  language={eng},
  issn={2045-2322},
  volume={10(2020) Artikel-Nummer 13584},
  number={16 Seiten},
  note={Gesehen am 13.10.2020},
  journal={Scientific reports},
  doi={10.1038/s41598-020-70014-0},
}
@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-68463887,
  author={Molema, Femke and Burgard, Peter and K{\"o}lker, Stefan and H{\"o}rster, Friederike and Posset, Roland},
  organization={The European registry and network for Intoxication type Metabolic Diseases},
  title={Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation},
  subtitle={options for treatment},
  year={2019},
  pages={397-405},
  language={eng},
  issn={1096-7206},
  volume={126},
  number={4},
  note={Gesehen am 04.12.2019},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2019.02.003},
}
@article{UBHD-67865774,
  author={Tuncel, Ali Tunç and Wang, Bei-Tzu and Okun, J{\"u}rgen G. and K{\"o}lker, Stefan and Morath, Marina and Sauer, Sven},
  title={Maleic acid - but not structurally related methylmalonic acid},
  subtitle={interrupts energy metabolism by impaired calcium homeostasis},
  year={2015},
  language={eng},
  issn={1932-6203},
  volume={10(2015},
  note={Gesehen am 28.08.2015},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0128770},
  url={http://dx.doi.org/10.1371/journal.pone.0128770},
  library={UB},
}
@article{UBHD-68398892,
  author={Tuncel, Ali Tunç and Boy, Nikolas and Morath, Marina and H{\"o}rster, Friederike and M{\"u}tze, Ulrike and K{\"o}lker, Stefan},
  title={Organic acidurias in adults},
  subtitle={late complications and management},
  year={2018},
  pages={765-776},
  language={eng},
  issn={1573-2665},
  volume={41},
  number={5},
  note={Gesehen am 14.06.2019},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-017-0135-2},
}
@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-68569951,
  author={Vaz, Frédéric and McDermott, John H. and Alders, Mariëlle and Wortmann, Saskia Brigitte and K{\"o}lker, Stefan and Pras-Raves, Mia L. and Vervaart, Martin A. T. and van Lenthe, Henk and Luyf, Angela C. M. and Elfrink, Hyung L. and Metcalfe, Kay and Cuvertino, Sara and Clayton, Peter E. and Yarwood, Rebecca and Lowe, Martin P. and Lovell, Simon and Rogers, Richard Curtis and van Kampen, Antoine H. C. and Ruiter, Jos P. N. and Wanders, Ronald J. A. and Ferdinandusse, Sacha and van Weeghel, Michel and Engelen, Marc and Banka, Siddharth},
  title={Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia},
  year={2019},
  pages={3382-3397},
  language={eng},
  issn={1460-2156},
  volume={142},
  number={11},
  note={Gesehen am 24.04.2020},
  journal={Brain},
  doi={10.1093/brain/awz291},
}
@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-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-68288244,
  author={Zeltner, Nina Amélie and Bondarenko, Aljona and K{\"o}lker, Stefan and Burgard, Peter},
  title={Development and psychometric evaluation of the MetabQoL 1.0},
  subtitle={a quality of life questionnaire for paediatric patients with intoxication-type inborn errors of metabolism},
  year={2017},
  pages={27-35},
  language={eng},
  issn={2192-8312},
  volume={37},
  note={Gesehen am 24.07.2018},
  journal={JIMD reports},
  doi={10.1007/8904_2017_11},
}
@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-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-68107049,
  author={Zielonka, Matthias and Seitz, Angelika and K{\"o}lker, Stefan and Boy, Nikolas},
  title={Severe acute subdural hemorrhage in a patient with glutaric aciduria type I after minor head trauma},
  subtitle={a case report},
  year={2015},
  pages={1065-1069},
  language={eng},
  issn={1708-8283},
  volume={30},
  number={8},
  note={Gesehen am 05.04.2017},
  journal={Journal of child neurology},
  doi={10.1177/0883073814541479},
}
@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-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},
}