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Metabolism: Clinical and Experimental|February 18, 2006
Metabolism of gamma-hydroxybutyrate to d-2-hydroxyglutarate in mammals: further evidence for d-2-hydroxyglutarate transhydrogenaseEduard A Struys, Nanda M Verhoeven, Erwin E W Jansen, et al.Molecular Genetics and Metabolism|May 14, 2020
Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiencyAna Pop, Desirée E C Smith, Trevor Kirby, et al.Human Mutation|December 19, 2009
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduriaMartijn Kranendijk, Eduard A Struys, K Michael Gibson, et al.Genes|September 5, 2020
A Missense Variant in <i>ALDH5A1</i> Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki DogKaren M Vernau, Eduard Struys, Anna Letko, et al.Journal of Inherited Metabolic Disease|July 17, 2023
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspectiveTessa M A Peters, Udo F H Engelke, Siebolt de Boer, et al.Molecular Genetics and Metabolism|March 7, 2024
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiencyItay Tokatly Latzer, Mariarita Bertoldi, Nenad Blau, et al.Science (New York, N.Y.)|September 18, 2010
IDH2 mutations in patients with D-2-hydroxyglutaric aciduriaMartijn Kranendijk, Eduard A Struys, Emile van Schaftingen, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2017
Oral D-galactose supplementation in PGM1-CDGSunnie Yan-Wai Wong, Therese Gadomski, Monique van Scherpenzeel, et al.Pageof 15