title: Molecular and enzymatic methods for detection of genetic defects in distal pathways of branched-chain amino acid metabolism.
authors.affiliation: Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201, USA.
authors.forename: K M
authors.initials: KM
authors.lastname: Gibson
authors.forename: M
authors.initials: M
authors.lastname: Ugarte
authors.forename: T
authors.initials: T
authors.lastname: Fukao
authors.forename: G A
authors.initials: GA
authors.lastname: Mitchell
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D000597:Amino Acids, Branched-Chain / Q000235:genetics*; D001483:Base Sequence; D019735:Carbon-Carbon Ligases / Q000378:metabolism; D017931:DNA Primers; D018076:DNA, Complementary; D005784:Gene Amplification; D006801:Humans
chemical_list: D000597:Amino Acids, Branched-Chain; D017931:DNA Primers; D018076:DNA, Complementary; D019735:Carbon-Carbon Ligases; C022458:propionyl CoA carboxylase (ATP-hydrolyzing); C021573:methylcrotonoyl-CoA carboxylase