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Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 21, 2024
Impact of early diagnosis, disease variant, and quality of care on the neurocognitive outcome in maple syrup urine disease: A meta-analysisSvenja Scharre, Katharina Mengler, Elena Schnabel, et al.Molecular Genetics and Metabolism|December 19, 2023
ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvaeMarie J Seidl, Svenja Scharre, Roland Posset, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disordersRoland Posset, Sven F Garbade, Florian Gleich, et al.Molecular Genetics and Metabolism|December 8, 2020
Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disordersRoland Posset, Stefan Kölker, Florian Gleich, et al.Annals of Clinical and Translational Neurology|October 11, 2022
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiencySvenja Scharre, Roland Posset, Sven F Garbade, et al.Journal of Inherited Metabolic Disease|June 8, 2026
Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and SwitzerlandSvenja Scharre, Annette L Hess, Florian Gleich, et al.Pediatrics|July 21, 2026
Newborn Screening for Urea Cycle Disorders and Clinical OutcomesSvenja Scharre, Jürgen G Okun, Florian Gleich, et al.Pageof 1