Detection of gene defects in branched-chain amino acid metabolism by tandem mass spectrometry of carnitine esters produced by cultured fibroblasts.
Roe
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Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas 75226, USA.
Roe
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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
D000597:Amino Acids, Branched-Chain; D004952:Esters; D002331:Carnitine