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Journal of Inherited Metabolic Disease|November 8, 2003
Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiencyS E Olpin, A Afifi, S Clark, et al.Journal of Inherited Metabolic Disease|November 8, 2003
GLUT-1 deficiency without epilepsy--an exceptional caseW C G Overweg-Plandsoen, J E M Groener, D Wang, et al.Journal of Inherited Metabolic Disease|November 8, 2003
Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decayJ Häberle, J Denecke, E Schmidt, et al.Journal of Inherited Metabolic Disease|November 8, 2003
Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2U Spiekerkoetter, G Huener, T Baykal, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Allopurinol challenge test in childrenA B Burlina, V Ferrari, C Dionisi-Vici, et al.Journal of Inherited Metabolic Disease|January 1, 1992
In vivo 13C-NMR evaluation of glycogen content in a patient with glycogen storage diseaseP Labrune, P Jehenson, A Syrota, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Carrier detection in glutaric aciduria type I using interleukin-2-dependent cultured lymphocytesL E Seargeant, A E Chudley, L A Dilling, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Investigation of enzyme defects in children with lactic acidosisB Merinero, C Pérez-Cerda, M UgarteJournal of Inherited Metabolic Disease|January 1, 1992
Molecular basis of inherited medium-chain acyl-CoA dehydrogenase deficiency causing sudden child deathD P Kelly, D E Hale, S L Rutledge, et al.Journal of Inherited Metabolic Disease|February 10, 2004
Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: possible beneficial effect of vitamin therapyY S Hong, S H Korman, J Lee, et al.Pageof 429