Showing results (441-450 of 4,287) with videos related to
Sort By:
Pageof 429
Journal of Inherited Metabolic Disease|August 27, 2019
Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohortAlbina Nowak, Uyen Huynh-Do, Pierre-Alexandre Krayenbuehl, et al.Journal of Inherited Metabolic Disease|March 21, 1998
Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 geneC Dionisi-Vici, S Seneca, M Zeviani, et al.Journal of Inherited Metabolic Disease|March 21, 1998
Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)K Isogai, K Sukegawa, S Tomatsu, et al.Journal of Inherited Metabolic Disease|January 14, 1998
Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease)B Fowler, R B Schutgens, D S Rosenblatt, et al.Journal of Inherited Metabolic Disease|January 14, 1998
Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiencyM A García-Pérez, C Climent, P Briones, et al.Journal of Inherited Metabolic Disease|July 9, 2015
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosisAndrea Mignarri, Alessandro Magni, Marina Del Puppo, et al.Journal of Inherited Metabolic Disease|July 16, 2015
N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomicsLucia Abela, Luke Simmons, Katharina Steindl, et al.Journal of Inherited Metabolic Disease|April 29, 2015
Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARSJillian P Casey, Suzanne Slattery, Melanie Cotter, et al.Journal of Inherited Metabolic Disease|May 19, 1998
Executive function in treated phenylketonuria as measured by the one-back and two-back versions of the continuous performance testP Griffiths, R Campbell, P RobinsonJournal of Inherited Metabolic Disease|May 19, 1998
Primary adrenal insufficiency in a child with a mitochondrial DNA deletionC Bruno, C Minetti, Y Tang, et al.Pageof 429