Showing results (141-150 of 248) with videos related to
Sort By:
Pageof 25
Clinical Chemistry|March 10, 2001
Development of a stable-isotope dilution assay for gamma-aminobutyric acid (GABA) transaminase in isolated leukocytes and evidence that GABA and beta-alanine transaminases are identicalD S Schor, E A Struys, B M Hogema, et al.Developmental Medicine and Child Neurology|February 1, 1994
3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndromeO N Elpeleg, H Costeff, A Joseph, et al.Pediatric Research|April 1, 1997
Regulatory adaptation of isoprenoid biosynthesis and the LDL receptor pathway in fibroblasts from patients with mevalonate kinase deficiencyG F Hoffmann, U N Wiesmann, S Brendel, et al.Journal of Inherited Metabolic Disease|March 14, 2009
Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patientsW V Wickenhagen, G S Salomons, K M Gibson, et al.The Journal of Biological Chemistry|July 19, 1996
Molecular cloning of human phosphomevalonate kinase and identification of a consensus peroxisomal targeting sequenceK L Chambliss, C A Slaughter, R Schreiner, et al.Journal of Inherited Metabolic Disease|April 26, 2007
Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacologyI Knerr, P L Pearl, T Bottiglieri, et al.Genomics|April 1, 1996
3-Hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patientsS P Wang, M F Robert, K M Gibson, et al.The Journal of Clinical Investigation|April 1, 1986
Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduriaK Narisawa, K M Gibson, L Sweetman, et al.Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|May 12, 2004
Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiencyA Dervent, K M Gibson, P L Pearl, et al.Biochemical and Biophysical Research Communications|February 17, 1998
Characterization of the mevalonate kinase 5'-untranslated region provides evidence for coordinate regulation of cholesterol biosynthesisR W Bishop, K L Chambliss, G F Hoffmann, et al.Pageof 25