Detection of gene defects in branched-chain amino acid metabolism by tandem mass spectrometry of carnitine esters produced by cultured fibroblasts

Methods Enzymol. 2000:324:424-31. doi: 10.1016/s0076-6879(00)24251-1.
No abstract available

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Amino Acids, Branched-Chain / metabolism*
  • Carnitine / metabolism*
  • Cells, Cultured
  • Esters
  • Fibroblasts / metabolism
  • Humans
  • Mass Spectrometry

Substances

  • Amino Acids, Branched-Chain
  • Esters
  • Carnitine