title: Detection of gene defects in branched-chain amino acid metabolism by tandem mass spectrometry of carnitine esters produced by cultured fibroblasts.
authors.affiliation: Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas 75226, USA.
authors.forename: C R
authors.initials: CR
authors.lastname: Roe
authors.forename: D S
authors.initials: DS
authors.lastname: Roe
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D000597:Amino Acids, Branched-Chain / Q000378:metabolism*; D002331:Carnitine / Q000378:metabolism*; D002478:Cells, Cultured; D004952:Esters; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D013058:Mass Spectrometry
chemical_list: D000597:Amino Acids, Branched-Chain; D004952:Esters; D002331:Carnitine