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Journal of Inherited Metabolic Disease|September 16, 2003
Trimethylamine and odorous sweatS C Mitchell, R L SmithJournal of Inherited Metabolic Disease|January 1, 1992
X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutationH H Dahl, L L Hansen, R M Brown, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Differential diagnosis of hydroxydicarboxylic aciduria based on release of 3H2O from [9,10-3H]myristic and [9,10-3H]palmitic acids by intact cultured fibroblastsS E Olpin, N J Manning, K Carpenter, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Bone marrow transplantation for Niemann-Pick type IA diseaseE Bayever, N Kamani, P Ferreira, et al.Journal of Inherited Metabolic Disease|August 2, 2003
Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIxP B Mills, K Mills, N Mian, et al.Journal of Inherited Metabolic Disease|August 2, 2003
Carnitine transport: pathophysiology and metabolism of known molecular defectsI TeinJournal of Inherited Metabolic Disease|August 2, 2003
Mitochondrial oxidative phosphorylation: pitfalls and tips in measuring and interpreting enzyme activitiesD Chretien, P RustinJournal of Inherited Metabolic Disease|August 2, 2003
Clinical characteristics and diagnostic clues in inborn errors of creatine metabolismC Stromberger, O A Bodamer, S Stöckler-IpsirogluJournal of Inherited Metabolic Disease|April 23, 2003
Clinical features of galactokinase deficiency: a review of the literatureA M Bosch, H D Bakker, A H van Gennip, et al.Journal of Inherited Metabolic Disease|April 23, 2003
A novel 6 bp insertion in exon 7 associated with an unusual phenotype in a family with Fabry diseaseTh Kroepfl, K Paul, P Kotanko, et al.Pageof 429