@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-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},
}
@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-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-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-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-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-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-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},
}
@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-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-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-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-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-69055984,
  author={Stich, Maximilian and Benning, Louise and Speer, Claudius and Garbade, Sven and Bartenschlager, Marie and Kim, Heeyoung and Gleich, Florian and Jeltsch, Kathrin and Haase, Bettina and Janda, Ales̆ and Renk, Hanna and Elling, Roland and Schnitzler, Paul and Waterboer, Tim and Hoffmann, Georg F. and Kr{\"a}usslich, Hans-Georg and M{\"u}ller, Barbara and Bartenschlager, Ralf and T{\"o}nshoff, Burkhard},
  title={Waning immunity 14 months after SARS-CoV-2 infection},
  year={2022},
  pages={1-4},
  language={eng},
  issn={1098-4275},
  volume={150},
  note={Accepted: August 02 2022 ; Gesehen am 27.03.2023},
  journal={Pediatrics},
  doi={10.1542/peds.2022-057151},
}
@article{UBHD-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},
}