@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-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-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-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-68580346,
  author={Burgard, Peter and M{\"o}nch, Eberhard and Zschocke, Johannes and Wendel, U. and Langenbeck, Ulrich},
  title={Development of metabolic phenotype in phenylketonuria},
  subtitle={evaluation of the blaskovics protein loading test at 5 Years of age},
  year={2016},
  pages={77-84},
  language={eng},
  issn={2192-8312},
  volume={29},
  note={First Online: 19 December 2015 ; Gesehen am 25.05.2020},
  journal={JIMD reports},
  doi={10.1007/8904_2015_508},
}
@article{UBHD-68482577,
  author={Burgard, Peter and Lindner, Martin},
  title={Diagnoseer{\"o}ffnung},
  subtitle={CME zertifizierte Fortbildung =},
  year={2018},
  pages={343-353},
  language={ger and eng},
  issn={1433-0474},
  volume={166},
  number={4},
  note={Online publiziert: 27. Oktober 2017 ; Gesehen am 30.01.2020},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-017-0390-1},
}
@article{UBHD-69218198,
  author={Burgard, Peter and Schmidt, E. and Rupp, André and Schneider, W. and Bremer, Hans J.},
  title={Intellectual development of the patients of the German Collaborative Study of children treated for phenylketonuria},
  year={1996},
  pages={S33-S38},
  language={eng},
  issn={1432-1076},
  volume={155},
  number={Suppl. 1},
  note={Gesehen am 28.05.2024},
  journal={European journal of pediatrics},
  doi={10.1007/PL00014245},
}
@article{UBHD-68258785,
  author={Burgard, Peter and Garbade, Sven and Hoffmann, Georg F. and K{\"o}lker, Stefan},
  title={Issues with European guidelines for phenylketonuria},
  year={2017},
  pages={681-683},
  language={eng},
  issn={2213-8595},
  volume={5},
  number={9},
  note={Gesehen am 07.06.2018},
  journal={The lancet},
  doi={10.1016/S2213-8587(17)30201-2},
}
@article{UBHD-68580343,
  author={Burgard, Peter and K{\"o}lker, Stefan and Haege, Gisela and Lindner, Martin and Hoffmann, Georg F.},
  title={Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders—review and meta-analysis of observational studies published over more than 35 years},
  year={2016},
  pages={219-229},
  language={eng},
  issn={1573-2665},
  volume={39},
  number={2},
  note={First published: 03 December 2015 ; Gesehen am 25.05.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-015-9901-1},
}
@article{UBHD-68259165,
  author={Burgard, Peter and Rupp, Kathrin and Lindner, Martin and Haege, Gisela and Hoffmann, Georg F.},
  title={Newborn screening programmes in Europe},
  subtitle={arguments and efforts regarding harmonization : Part 2 - From screening laboratory results to treatment, follow-up and quality assurance},
  year={2012},
  pages={613-625},
  language={eng},
  issn={1573-2665},
  volume={35},
  number={4},
  note={First Online: 28 April 2012 ; Gesehen am 08.06.2018},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-012-9484-z},
}
@article{UBHD-68447556,
  author={Burgard, Peter and Peters, Verena},
  title={On being an editor, reviewer, and author},
  subtitle={different sides of the same coin},
  year={2019},
  pages={1-2},
  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.12017},
}
@article{UBHD-69141343,
  author={Burgard, Peter and Nyhan, William L.},
  title={[Rezension von: Atlas of inherited metabolic diseases]},
  year={2020},
  pages={284},
  language={eng},
  issn={1573-2665},
  volume={44},
  number={1 vom: Jan.},
  note={First published: 22 December 2020 ; Gesehen am 09.11.2023},
  journal={Journal of inherited metabolic disease},
}
@article{UBHD-69141322,
  author={Burgard, Peter and Hoffmann, Georg F. and Green, Anne},
  title={Unlocking the Treatment for PKU Brewin Books},
  year={2021},
  pages={282-283},
  language={eng},
  issn={1573-2665},
  volume={44},
  number={1},
  note={First published: 22 December 2020 ; Gesehen am 09.11.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12350},
}
@article{UBHD-68249971,
  author={Cazzorla, Chiara and Burgard, Peter},
  title={Application of the WHOQOL-100 for the assessment of quality of life of adult patients with inherited metabolic diseases},
  year={2012},
  pages={25-30},
  language={eng},
  issn={1096-7206},
  volume={106},
  number={1},
  note={Gesehen am 07.05.2018},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2012.02.008},
}
@article{UBHD-68862760,
  author={Choukair, Daniela and Hauck, Fabian and Bettendorf, Markus and Krude, Heiko and Klein, Christoph and B{\"a}umer, Tobias and Berner, Reinhard and Lee-Kirsch, Min Ae and Oberste-Berghaus, Corinna and Burgard, Peter and Hoffmann, Georg F.},
  title={An integrated clinical pathway for diagnosis, treatment and care of rare diseases},
  subtitle={model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee},
  year={2021},
  pages={1-13},
  language={eng},
  issn={1750-1172},
  volume={16},
  number={Artikel-ID 474},
  note={Gesehen am 27.04.2022},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-021-02092-w},
}
@article{UBHD-69095086,
  author={Choukair, Daniela and Lee-Kirsch, Min Ae and Berner, Reinhard and Oberste-Berghaus, Corinna and Hiort, Olaf and Hauck, Fabian and Klein, Christoph and Druschke, Diana and Hoffmann, Georg F. and Burgard, Peter},
  title={Der klinische Versorgungspfad zur multiprofessionellen Versorgung seltener Erkrankungen in der P{\"a}diatrie},
  subtitle={Ergebnisse aus dem Projekt TRANSLATE-NAMSE},
  year={2022},
  pages={52-60},
  language={ger},
  issn={1433-0474},
  volume={170},
  number={1},
  note={Online publiziert: 3. Dezember 2021 ; Gesehen am 10.07.2023},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-021-01378-4},
  url={https://doi.org/10.1007/s00112-021-01378-4},
  library={UB},
}
@article{UBHD-69296761,
  author={Choukair, Daniela and Mittnacht, Janna and Treiber, Dorothea and Hoffmann, Georg F. and Grasemann, Corinna and Huebner, Angela and Berner, Reinhard and Burgard, Peter and Szendr{\"o}di, Julia and Bettendorf, Markus},
  title={Resource use and costs of transitioning from paediatric to adult care for patients with chronic endocrine disease},
  year={2024},
  pages={121-129},
  language={eng},
  issn={1365-2265},
  volume={101},
  number={2 vom: Aug.},
  note={Gesehen am 31.01.2025},
  journal={Clinical endocrinology},
  doi={10.1111/cen.15105},
}
@article{UBHD-67666222,
  author={Cornel, Martina C. and Burgard, Peter and Hoffmann, Georg F. and Lindner, Martin},
  title={A framework to start the debate on neonatal screening policies in the EU},
  subtitle={an Expert Opinion Document},
  year={2014},
  pages={12-17},
  language={eng},
  issn={1476-5438},
  volume={22},
  number={1},
  note={Gesehen am 27.08.2014},
  journal={European journal of human genetics},
  doi={10.1038/ejhg.2013.90},
}
@article{UBHD-68487085,
  author={Demmelmair, Hans and MacDonald, Anita and Kotzaeridou, Urania and Burgard, Peter and Gonzalez-Lamuno, Domingo and Verduci, Elvira and Ersoy, Melike and Gokcay, Gulden and Alyanak, Behiye and Reischl, Eva and M{\"u}ller-Felber, Wolfgang and Faber, Fabienne Lara and Handel, Uschi and Paci, Sabrina and Koletzko, Berthold},
  title={Determinants of plasma docosahexaenoic acid levels and their relationship to neurological and cognitive functions in PKU patients},
  subtitle={a double blind randomized supplementation study},
  year={2018},
  pages={20 S.},
  language={eng},
  issn={2072-6643},
  volume={10(2018},
  note={Gesehen am 10.02.2020},
  journal={Nutrients},
  doi={10.3390/nu10121944},
}
@article{UBHD-68405382,
  author={Garbade, Sven and Himmelreich, Nastassja and Haas, Dorothea and Trefz, Friedrich K. and Hoffmann, Georg F. and Burgard, Peter and Blau, Nenad},
  title={Allelic phenotype values},
  subtitle={a model for genotype-based phenotype prediction in phenylketonuria},
  year={2019},
  pages={580-590},
  language={eng},
  issn={1530-0366},
  volume={21},
  number={3},
  note={Published: 12 July 2018 ; Gesehen am 05.07.2019},
  journal={Genetics in medicine},
  doi={10.1038/s41436-018-0081-x},
}
@article{UBHD-68792364,
  author={Garbade, Sven and Ederer, Viviane and Burgard, Peter and Wendel, Udo and Spiekerk{\"o}tter, Ute and Haas, Dorothea and Gr{\"u}nert, Sarah},
  title={Impact of glycogen storage disease type I on adult daily life},
  subtitle={a survey},
  year={2021},
  pages={1-10},
  language={eng},
  issn={1750-1172},
  volume={16},
  number={Artikel-ID 371},
  note={Gesehen am 21.10.2021},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-021-02006-w},
}
@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-68627131,
  author={Gramer, Gwendolyn and Haege, Gisela and Glahn, Esther M. and Hoffmann, Georg F. and Lindner, Martin and Burgard, Peter},
  title={Living with an inborn error of metabolism detected by newborn screening—Parents’ perspectives on child development and impact on family life},
  year={2014},
  pages={189-195},
  language={eng},
  issn={1573-2665},
  volume={37},
  number={2},
  note={First published: 16 August 2013 ; Gesehen am 13.08.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-013-9639-6},
}
@article{UBHD-68622220,
  author={Gramer, Gwendolyn and Haege, Gisela and Langhans, Claus-Dieter and Schuhmann, Vera and Burgard, Peter and Hoffmann, Georg F.},
  title={Long-chain polyunsaturated fatty acid status in children, adolescents and adults with phenylketonuria},
  year={2016},
  pages={52-57},
  language={eng},
  issn={1532-2823},
  volume={109},
  note={Gesehen am 30.07.2020},
  journal={Prostaglandins, leukotrienes and essential fatty acids},
  doi={10.1016/j.plefa.2016.04.005},
}
@article{UBHD-68639022,
  author={Gramer, Gwendolyn and Haege, Gisela and Fang-Hoffmann, Junmin and Hoffmann, Georg F. and Bartram, Claus R. and Hinderhofer, Katrin and Burgard, Peter and Lindner, Martin},
  title={Medium-chain Acyl-CoA dehydrogenase deficiency},
  subtitle={evaluation of genotype-phenotype correlation in patients detected by newborn screening},
  year={2015},
  pages={101-112},
  language={eng},
  issn={2192-8312},
  volume={23},
  note={Gesehen am 21.09.2020},
  journal={JIMD reports},
  doi={10.1007/8904_2015_439},
}
@article{UBHD-68247088,
  author={Gramer, Gwendolyn and F{\"o}rl, Birgit and Springer, Christina and Weimer, Petra and Haege, Gisela and Mackensen, Friederike and M{\"u}ller, Edith and V{\"o}lcker, Hans Eberhard and Hoffmann, Georg F. and Lindner, Martin and Krastel, Hermann and Burgard, Peter},
  title={Visual functions in phenylketonuria},
  subtitle={evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses},
  year={2013},
  pages={1-7},
  language={eng},
  issn={1096-7206},
  volume={108},
  number={1},
  note={Gesehen am 26.04.2018},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2012.10.021},
}
@article{UBHD-68287007,
  author={Gr{\"u}ters-Kieslich, Annette and Burgard, Peter and Berner, Reinhard and Hoffmann, Georg F.},
  title={Zentren f{\"u}r seltene Erkrankungen},
  year={2017},
  pages={211-215},
  language={ger},
  issn={1433-0474},
  volume={165},
  number={3},
  note={Gesehen am 19.07.2018},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-017-0246-8},
}
@article{UBHD-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-67928865,
  author={Haas, Dorothea and Gan-Schreier, Hongying and Langhans, Claus-Dieter and Anninos, Alexandros and Haege, Gisela and Burgard, Peter and Schulze, Andreas and Hoffmann, Georg F. and Okun, J{\"u}rgen G.},
  title={Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSF},
  year={2014},
  pages={188-194},
  language={eng},
  issn={1879-0038},
  volume={538},
  number={1},
  note={Gesehen am 22.01.2016},
  journal={Gene},
  doi={10.1016/j.gene.2014.01.019},
}
@article{UBHD-68807089,
  author={Haas, Dorothea and Hauke, Jana and Schwarz, Kathrin V. and Consalvi, Lucia and Trefz, Friedrich K. and Blau, Nenad and Hoffmann, Georg F. and Burgard, Peter and Garbade, Sven and Okun, J{\"u}rgen G.},
  title={Differences of phenylalanine concentrations in dried blood spots and in plasma},
  subtitle={erythrocytes as a neglected component for this observation},
  year={2021},
  pages={1-10},
  language={eng},
  issn={2218-1989},
  volume={11},
  note={Gesehen am 01.12.2021},
  journal={Metabolites},
  doi={10.3390/metabo11100680},
}
@article{UBHD-68687313,
  author={Haas, Dorothea and Haege, Gisela and Hoffmann, Georg F. and Burgard, Peter},
  title={Prenatal presentation and diagnostic evaluation of suspected Smith-Lemli-Opitz (RSH) syndrome},
  year={2013},
  pages={1008-1011},
  language={eng},
  issn={1552-4833},
  volume={161},
  number={5},
  note={Gesehen am 10.02.2021},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.a.35837},
}
@article{UBHD-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-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-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},
}
@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-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-68964264,
  author={Lindner, Martin and Gramer, Gwendolyn and Haege, Gisela and Fang-Hoffmann, Junmin and Schwab, Karl O. and Tacke, Uta and Trefz, Friedrich K. and Mengel, Eugen and Wendel, Udo and Leichsenring, Michael and Burgard, Peter and Hoffmann, Georg F.},
  title={Efficacy and outcome of expanded newborn screening for metabolic diseases},
  subtitle={report of 10 years from South-West Germany},
  year={2011},
  pages={1-10},
  language={eng},
  issn={1750-1172},
  volume={6},
  number={Artikel-ID 44},
  note={Gesehen am 14.09.2022},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/1750-1172-6-44},
}
@article{UBHD-68321597,
  author={Loeber, J. Gerard and Burgard, Peter and Rupp, Kathrin and Hoffmann, Georg F.},
  title={Newborn screening programmes in Europe; arguments and efforts regarding harmonization},
  subtitle={Part 1 - From blood spot to screening result},
  year={2012},
  pages={603-611},
  language={eng},
  issn={1573-2665},
  volume={35},
  number={4},
  note={Gesehen am 26.10.2018 ; Presented at the Annual Symposium of the SSIEM, Geneva, Switzerland, August 30 - September 2, 2011},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-012-9483-0},
}
@article{UBHD-69067557,
  author={MacDonald, Anita and Gokmen-Ozel, Hulya and van Rijn, Margreet and Burgard, Peter},
  title={The reality of dietary compliance in the management of phenylketonuria},
  year={2010},
  pages={665-670},
  language={eng},
  issn={1573-2665},
  volume={33},
  number={6 vom: Dez.},
  note={Gesehen am 20.04.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-010-9073-y},
}
@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-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-69085882,
  author={Oberste-Berghaus, Corinna and H{\"o}ppner, Jakob and Burgard, Peter and Sch{\"u}ndeln, Michael Maria and Matar, Nora and M{\"u}ller, Gabriele and Krude, Heiko and Berner, Reinhard and Lee-Kirsch, Min Ae and Hauck, Fabian and Wainwright, Kerstin and Baumgarten, Sylvana and Atinga, Janet and Bauer, Jens J. and Manka, Eva and K{\"o}rholz, Julia and Kiewert, Cordula and Heinen, André and Kretschmer, Tanita and Kurth, Tobias and Mittnacht, Janna and Schramm, Christoph and Klein, Christoph and Graessner, Holm and Hiort, Olaf and Muntau, Ania C. and Gr{\"u}ters, Annette and Hoffmann, Georg F. and Choukair, Daniela},
  title={Transition for adolescents with a rare disease},
  subtitle={results of a nationwide German project},
  year={2023},
  pages={1-9},
  language={eng},
  issn={1750-1172},
  volume={18(2023) vom: Apr.},
  number={Artikel-ID 93},
  note={Gesehen am 15.06.2023},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-023-02698-2},
}
@article{UBHD-68614286,
  author={Opladen, Thomas and Lindner, Martin and Das, Anibh M. and Marquardt, Thorsten and Khan, Aneal and Emre, Sukru H. and Burton, Barbara K. and Barshop, Bruce A. and B{\"o}hm, Thea and Meyburg, Jochen and Zangerl, Kathrin and Mayorandan, Sebene and Burgard, Peter and D{\"u}rr, Ulrich H. N. and Rosenkranz, Bernd and Rennecke, J{\"o}rg and Derbinski, Jens and Yudkoff, Marc and Hoffmann, Georg F.},
  title={In vivo monitoring of urea cycle activity with 13C-acetate as a tracer of ureagenesis},
  year={2016},
  pages={19-26},
  language={eng},
  issn={1096-7206},
  volume={117},
  number={1},
  note={Published online 2015 ; Im Titel ist die Zahl "13" hochgestellt ; Gesehen am 07.07.2020},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2015.11.007},
}
@article{UBHD-69086233,
  author={Opladen, Thomas and Okun, J{\"u}rgen G. and Burgard, Peter and Blau, Nenad and Hoffmann, Georg F.},
  title={Phenylalanine loading in pediatric patients with dopa-responsive dystonia},
  subtitle={revised test protocol and pediatric cutoff values},
  year={2010},
  pages={697-703},
  language={eng},
  issn={1573-2665},
  volume={33},
  number={6 vom: Dez.},
  note={Gesehen am 16.06.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-010-9164-9},
}
@article{UBHD-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-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-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-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-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-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-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},
}
@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-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-68381786,
  author={Waisbren, Susan E. and Burgard, Peter},
  title={Biochemical markers and neuropsychological functioning in distal urea cycle disorders},
  year={2018},
  pages={657-667},
  language={eng},
  issn={1573-2665},
  volume={41},
  number={4},
  note={Gesehen am 23.04.2019},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-017-0132-5},
}
@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-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-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},
}