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Journal of Inherited Metabolic Disease|August 21, 2023
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samplesEsther M Maier, Ulrike Mütze, Nils Janzen, et al.Annals of Clinical and Translational Neurology|January 24, 2024
Neurological outcome in long-chain hydroxy fatty acid oxidation disordersUlrike Mütze, Alina Ottenberger, Florian Gleich, et al.Journal of Inherited Metabolic Disease|December 4, 2020
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre studyE M Charlotte Märtner, Esther M Maier, Katharina Mengler, et al.Journal of Inherited Metabolic Disease|October 20, 2022
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortiumUlrike Mütze, Florian Gleich, Ivo Barić, et al.The Lancet Regional Health. Europe|October 22, 2024
Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational studyClaudia Weiß, Lena-Luise Becker, Johannes Friese, et al.Liver International : Official Journal of the International Association for the Study of the Liver|June 26, 2026
Pathomechanism of Fever-Induced Liver Failure in NBAS Deficiency and Treatment Effect of NAC-Observations In Vitro and In VivoTian Sun, Nicole Hammann, Lina Leghlam, et al.Journal of Inherited Metabolic Disease|March 31, 2022
Postauthorization safety study of betaine anhydrousUlrike Mütze, Florian Gleich, Sven F Garbade, et al.Pediatric Research|April 28, 2006
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiencyStefan Kölker, Sven F Garbade, Cheryl R Greenberg, et al.The Lancet. Child & Adolescent Health|November 10, 2021
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort studyClaudia Weiß, Andreas Ziegler, Lena-Luise Becker, et al.Nature Communications|September 21, 2021
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic aminesOya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, et al.Pageof 13