Florian Gleich

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Stefan Kölker, Ángeles García Cazorla, Vassili Valayannopoulos et al. · Journal of Inherited Metabolic Disease · 2015 · 249 citations · Full text

Life Sciences, Nephrology, Urology +14

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Stefan Kölker, Vassili Valayannopoulos, Alberto Burlina et al. · Journal of Inherited Metabolic Disease · 2015 · 236 citations · Full text

Life Sciences, Biochemistry, Nephrology +12

Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening

Ulrike Mütze, Sven F. Garbade, Gwendolyn Gramer et al. · PEDIATRICS · 2020 · 78 citations

Medicine, Child Health, Pediatrics +17

Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

Martina Huemer, Daria Diodato, Diego Martinelli et al. · Journal of Inherited Metabolic Disease · 2019 · 76 citations · Full text

Public Health, Genetics, Molecular Medicine +15

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 et al. · Orphanet Journal of Rare Diseases · 2017 · 55 citations · Full text

Medicine, Pediatrics, Clinical Epidemiology +14