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Molecular Genetics and Metabolism Reports|December 6, 2023
Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort studyBerna Seker Yilmaz, Julien Baruteau, Anupam Chakrapani, et al.Journal of Inherited Metabolic Disease|March 28, 2012
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomesPatricia P Jumbo-Lucioni, Kathryn Garber, John Kiel, et al.Epilepsia|March 30, 2023
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international studyNour Elkhateeb, Giorgia Olivieri, Barbara Siri, et al.Orphanet Journal of Rare Diseases|December 6, 2019
Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patientsKimber van Vliet, Willem G van Ginkel, Rianne Jahja, et al.Journal of Inherited Metabolic Disease|October 26, 2016
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiencyAndrew A M Morris, Viktor Kožich, Saikat Santra, et al.Journal of Inherited Metabolic Disease|March 31, 2022
Postauthorization safety study of betaine anhydrousUlrike Mütze, Florian Gleich, Sven F Garbade, et al.Brain : a Journal of Neurology|October 30, 2015
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian populationMonika Oláhová, Steven A Hardy, Julie Hall, et al.Nature Genetics|March 31, 2004
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndromePaul Gissen, Colin A Johnson, Neil V Morgan, et al.JAMA|July 25, 2014
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficienciesRobert W Taylor, Angela Pyle, Helen Griffin, et al.Scientific Data|March 25, 2026
A whole rock geochemical dataset for magmatic rocks drilled on the mid-Norwegian marginC Tegner, P Guo, S Chatterjee, et al.Pageof 12