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Journal of Inherited Metabolic Disease|August 2, 2014
Lipid metabolism in mitochondrial membranesJohannes A MayrJournal of Inherited Metabolic Disease|July 16, 2014
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseasesSowmiya Moorthie, Louise Cameron, Gurdeep S Sagoo, et al.Journal of Inherited Metabolic Disease|January 1, 1989
Medium-chain acyl-CoA dehydrogenase deficiency: metabolic effects and therapeutic efficacy of long-term L-carnitine supplementationW R Treem, C A Stanley, S I GoodmanJournal of Inherited Metabolic Disease|January 1, 1989
Prenatal diagnosis of infantile sialic acid storage disease in a twin pregnancyB D Lake, E P Young, K NicolaidesJournal of Inherited Metabolic Disease|January 1, 1989
Evidence for inhibition of exodus of small neutral amino acids from non-brain tissues in hyperphenylalaninaemic ratsC de Cespedes, J G Thoene, K Lowler, et al.Journal of Inherited Metabolic Disease|January 1, 1989
Cystinuria and its treatment: 25 years experience at St. Bartholomew's HospitalA D StephensJournal of Inherited Metabolic Disease|January 1, 1989
Mutation of the E1 alpha subunit of the pyruvate dehydrogenase complex, in relation to heterogeneityA Kitano, F Endo, I Matsuda, et al.Journal of Inherited Metabolic Disease|July 18, 2014
Inborn errors of pyrimidine metabolism: clinical update and therapyShanti Balasubramaniam, John A Duley, John ChristodoulouJournal of Inherited Metabolic Disease|January 9, 2016
The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatmentBryony Ryder, Detlef Knoll, Donald R Love, et al.Pageof 429