@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-68574658,
  author={Gramer, Gwendolyn and Fang-Hoffmann, Junmin and Feyh, Patrik and Klinke, Glynis and Monostori, Péter and M{\"u}tze, Ulrike and Posset, Roland and Weiss, Karl Heinz and Hoffmann, Georg F. and Okun, J{\"u}rgen G.},
  title={Newborn screening for vitamin B12 deficiency in Germany},
  subtitle={strategies, results, and public health implications},
  year={2020},
  pages={12 S.},
  language={eng},
  issn={1097-6833},
  volume={216(2020) Artikel-Nummer 165-172.e4},
  number={12 Seiten},
  note={Im Titel ist die Zahl "12" tiefgestellt ; Available online 8 October 2019 ; Gesehen am 07.05.2020},
  journal={The journal of pediatrics},
  doi={10.1016/j.jpeds.2019.07.052},
}
@article{UBHD-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},
}
@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-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},
}
@book{UBHD-67706971,
  author={Posset, Roland},
  title={Therapeutic modulation of cerebral L-lysine oxidation in glutaric aciduria type I},
  subtitle={the role of the L-pipecolate pathway},
  year={2014},
  pages={III, 83 Bl.},
  language={eng},
  school={Heidelberg, Univ., Diss., 2014},
  library={UB [Signatur: 2014 U 1012]},
}
@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},
}
@book{UBHD-69123039,
  author={Posset, Roland},
  organization={Universit{\"a}t Heidelberg},
  title={Von Eminenz zur Evidenz als Grundlage pr{\"a}zisionsbasierter Medizin bei seltenen angeborenen Stoffwechselerkrankungen am Beispiel von Harnstoffzyklusst{\"o}rungen},
  address={Heidelberg},
  year={2023},
  pages={1 Band (verschiedene Seitenz{\"a}hlungen)},
  language={ger and eng},
  note={Publikationsbasierte Habilitationsschrift bestehend aus einem Text und 8 Zeitschriftenaufs{\"a}tzen},
  school={Habilitationsschrift,  Ruprecht-Karls-Universit{\"a}t Heidelberg,  2023,  Kumulative Habilitationsschrift},
  library={UB [Signatur: 2023 U 845]},
}
@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-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-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-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-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-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-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},
}