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Journal of Inherited Metabolic Disease|January 27, 2005
Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutationN Longo, T Fukao, R Singh, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|September 15, 1983
Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolismK M Gibson, L Sweetman, W L Nyhan, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|November 6, 2016
Therapeutic relevance of mTOR inhibition in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolismK R Vogel, G R Ainslie, E E W Jansen, et al.
The New England Journal of Medicine|June 19, 1986
Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesisG Hoffmann, K M Gibson, I K Brandt, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|December 9, 1982
3-hydroxy-3-methylglutaric aciduria: a new assay of 3-hydroxy-3-methylglutaryl-coa lyase using high performance liquid chromatographyK M Gibson, L Sweetman, W L Nyhan, et al.
Developmental Medicine and Child Neurology|August 4, 2004
Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria)A Philippe, J Deron, D Geneviève, et al.
Pediatric Research|October 1, 1982
Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidationJ M Saudubray, F X Coudé, F Demaugre, et al.
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