Gleich, FlorianUniversität HeidelbergHeidelberg
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Publications in heiBIB 
- Posset, Roland: Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders / Roland Posset, Sven F. Garbade, Florian Gleich, Sandesh C. S. Nagamani, Andrea L. Gropman, Friederik… , March 2024. - 9 S. : Illustrationen
In: Molecular genetics and metabolism, ISSN 1096-7206. 141(2024), 3 vom: März, Artikel-ID 108112, Seite 1-9
DOI: 10.1016/j.ymgme.2023.108112
- Posset, Roland: Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders / Roland Posset, Sven F. Garbade, Florian Gleich, Svenja Scharre, Jürgen G. Okun, Andrea L. Gropman, S… , April 2024. - 12 S. : Illustrationen
In: Genetics in medicine, ISSN 1530-0366. 26(2024), 4 vom: Apr., Artikel-ID 101039, Seite 1-12
DOI: 10.1016/j.gim.2023.101039
- Reischl-Hajiabadi, Anna Theresa: Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias / Anna T. Reischl-Hajiabadi, Elena Schnabel, Florian Gleich, Katharina Mengler, Martin Lindner, Peter … , July 2024. - 16 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 47(2024), 4 vom: Juli, Seite 674-689
DOI: 10.1002/jimd.12731
- Posset, Roland: The challenge of understanding and predicting phenotypic diversity in urea cycle disorders / Roland Posset, Matthias Zielonka, Florian Gleich, Sven F. Garbade, Georg F. Hoffmann, Stefan Kölker,… , November 2023. - 10 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 46(2023), 6 vom: Nov., Seite 1007-1016
DOI: 10.1002/jimd.12678
- Stich, Maximilian: Waning immunity 14 months after SARS-CoV-2 infection / Maximilian Stich, MD; Louise Benning, MD; Claudius Speer, MD; Sven F. Garbade, PhD; Marie Bartenschl… , 2022. - 4 S.
In: Pediatrics, ISSN 1098-4275. 150(2022), 5, Artikel-ID e2022057151, Seite 1-4
DOI: 10.1542/peds.2022-057151
- Mütze, Ulrike: How longitudinal observational studies can guide screening strategy for rare diseases / Ulrike Mütze, Katharina Mengler, Nikolas Boy, Florian Gleich, Thomas Opladen, Sven F. Garbade, Stefa… , 29 April 2022. - 13 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 45(2022), 5, Seite 889-901
DOI: 10.1002/jimd.12508
- Kölker, Stefan: Rare disease registries are key to evidence-based personalized medicine : highlighting the european experience / Stefan Kölker, Florian Gleich, Ulrike Mütze and Thomas Opladen on behalf of Scientific Consortia of … , 04 March 2022. - 11 S.
In: Frontiers in endocrinology, ISSN 1664-2392. 13(2022), Artikel-ID 832063, Seite 1-11
- Kožich, Viktor: Cystathionine β-synthase deficiency in the E-HOD registry-part I : pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis / Viktor Kožich, Jitka Sokolová, Andrew A. M. Morris, Markéta Pavlíková, Florian Gleich, Stefan Kölker… , 2021. - 16 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 3, Seite 677-692
DOI: 10.1002/jimd.12338
- Brennenstuhl, Heiko: Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria / Heiko Brennenstuhl, Mohammed Nashawi, Julian Schröter, Federico Baronio, Lars Beedgen, Florian Gleic… , 2021. - 16 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 5, Seite 1272-1287
DOI: 10.1002/jimd.12412
- Opladen, Thomas: U-IMD : the first Unified European registry for inherited metabolic diseases / Thomas Opladen, Florian Gleich, Viktor Kozich, Maurizio Scarpa, Diego Martinelli, Franz Schaefer, Ka… , 18 February 2021. - 10 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 16(2021), Artikel-ID 95, Seite 1-10
DOI: 10.1186/s13023-021-01726-3
- Mütze, Ulrike: Newborn screening and disease variants predict neurological outcome in isovaleric aciduria / Ulrike Mütze, Lucy Henze, Florian Gleich, Martin Lindner, Sarah C. Grünert, Ute Spiekerkoetter, Ren… , 25 January 2021. - 14 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 4 vom: 25. Jan., Seite 1-14
DOI: 10.1002/jimd.12364
- Hörster, Friederike: Delineating the clinical spectrum of isolated methylmalonic acidurias : cblA and mut / Friederike Hörster, Ali Tunç Tuncel, Florian Gleich, Tanja Plessl, Sean D. Froese, Sven F. Garbade, … , 2021. - 22 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 1, Seite 193-214
DOI: 10.1002/jimd.12297
- Mütze, Ulrike: Health outcomes of infants with vitamin B12 deficiency identified by newborn screening and early treated / Ulrike Mütze, MD, Magdalena Walter, PhD, Mareike Keller, MSc, Gwendolyn Gramer, MD, Sven F. Garbade,… , 11 February 2021. - 7 S.
In: The journal of pediatrics, ISSN 1097-6833. 235(2021) vom: Aug., Seite 42-48
DOI: 10.1016/j.jpeds.2021.02.009
- Zielonka, Matthias: From genotype to phenotype : early prediction of disease severity in argininosuccinic aciduria / Matthias Zielonka, Sven F. Garbade, Florian Gleich, Jürgen G. Okun, Sandesh C. S. Nagamani, Andrea L… , 15 January 2020. - 15 S.
In: Human mutation, ISSN 1098-1004. 41(2020), 5, Seite 946-960
DOI: 10.1002/humu.23983
- Posset, Roland: Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders / Roland Posset, Stefan Kölker, Florian Gleich, Jürgen G. Okun, Andrea L. Gropman, Sandesh C.S. Nagama… , 7 November 2020. - 8 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 131(2020), 4, Seite 390-397
DOI: 10.1016/j.ymgme.2020.10.013
- Mütze, Ulrike: Long-term outcomes of individuals with metabolic diseases identified through newborn screening / Ulrike Mütze, MD, Sven F. Garbade, PhD, Gwendolyn Gramer, MD, Martin Lindner, MD, Peter Freisinger, … , October 13, 2020. - 11 S.
In: Pediatrics, ISSN 1098-4275. 146(2020,5) Artikelnummer e20200444, 11 Seiten
DOI: 10.1542/peds.2020-0444
- Posset, Roland: Long-term effects of medical management on growth and weight in individuals with urea cycle disorders / Roland Posset, Sven F. Garbade, Florian Gleich, Andrea L. Gropman, Pascale de Lonlay, Georg F. Hoffm… , 20 July 2020. - 13 S.
In: Scientific reports, ISSN 2045-2322. 10(2020,1) Artikel-Nummer 11948, 13 Seiten
DOI: 10.1038/s41598-020-67496-3
- Zielonka, Matthias: Early prediction of phenotypic severity in Citrullinemia Type 1 / Matthias Zielonka, Stefan Kölker, Florian Gleich, Nicolas Stützenberger, Sandesh C.S. Nagamani, Andr… , 30 August 2019. - 14 S.
In: Annals of Clinical and Translational Neurology, ISSN 2328-9503. 6(2019), 9, Seite 1858-1871
DOI: 10.1002/acn3.50886
- Molema, Femke: Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders : on the basis of information from a European multicenter registry / Femke Molema, Florian Gleich, Peter Burgard, Ans T. van der Ploeg, Marshall L. Summar, Kimberly A. C… , 08 February 2019. - 14 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 42(2019), 6, Seite 1162-1175
DOI: 10.1002/jimd.12066
- Keller, Rebecca: Newborn screening for homocystinurias : recent recommendations versus current practice / Rebecca Keller, Petr Chrastina, Markéta Pavlíková, Sofía Gouveia, Antonia Ribes, Stefan Kölker, Henk… , 11 February 2019. - 121 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 42(2019), 1, Seite 128-139
DOI: 10.1002/jimd.12034
- Nettesheim, Susanne: Incidence, disease onset and short-term outcome in urea cycle disorders - cross-border surveillance in Germany, Austria and Switzerland / Susanne Nettesheim, Stefan Kölker, Daniela Karall, Johannes Häberle, Roland Posset, Georg F. Hoffman… , 15 June 2017
In: Orphanet journal of rare diseases, ISSN 1750-1172. 12(2017) Artikel-Nummer 111, 8 Seiten
DOI: 10.1186/s13023-017-0661-x
- Nettesheim, Susanne: Incidence, disease onset and short-term outcome in urea cycle disorders - cross-border surveillance in Germany, Austria and Switzerland / Susanne Nettesheim, Stefan Kölker, Daniela Karall, Johannes Häberle, Roland Posset, Georg F. Hoffman… . -
London: BioMed Central, 15 June 2017. - 1 Online-Ressource (8 Seiten)
DOI: 10.1186/s13023-017-0661-x
- Jamiolkowski, Dagmar: Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders / Dagmar Jamiolkowski, Stefan Kölker, Esther M. Glahn, Ivo Barić, Jiri Zeman, Matthias R. Baumgartner,… , [2016]. - 11 S. : Diagramme
In: Journal of inherited metabolic disease, ISSN 1573-2665. 39(2016), 2, Seite 231-241
DOI: 10.1007/s10545-015-9887-8
- Kölker, Stefan: Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders : part 2 : the evolving clinical phenotype / Stefan Kölker, Vassili Valayannopoulos, Alberto B. Burlina, Jolanta Sykut-Cegielska, Frits A. Wijbur… , November 2015. - 2 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 38(2015), 6, Seite 1157-1158
DOI: 10.1007/s10545-015-9868-y
- Kölker, Stefan: Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders : part 1 : the initial presentation / Stefan Kölker, Angeles Garcia Cazorla, Vassili Valayannopoulos, Allan M. Lund, Alberto B. Burlina, J… , November 2015. - 2 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 38(2015), 6, Seite 1155-1156
DOI: 10.1007/s10545-015-9867-z
- Kölker, Stefan: The phenotypic spectrum of organic acidurias and urea cycle disorders : part 2 : the evolving clinical phenotype / Stefan Kölker, Vassili Valayannopoulos, Alberto B. Burlina, Jolanta Sykut-Cegielska, Frits A. Wijbur… , November 2015. - 16 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 38(2015), 6, Seite 1059-1074
DOI: 10.1007/s10545-015-9840-x
- Kölker, Stefan: The phenotypic spectrum of organic acidurias and urea cycle disorders : part 1: the initial presentation / Stefan Kölker, Angeles Garcia Cazorla, Vassili Valayannopoulos, Allan M. Lund, Alberto B. Burlina, J… , November 2015. - 17 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 38(2015), 6, Seite 1041-1057
DOI: 10.1007/s10545-015-9839-3
