New clinical phenotype of branched-chain acyl-CoA oxidation defect

Lancet. 1991 Dec 14;338(8781):1522-3. doi: 10.1016/0140-6736(91)92338-3.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acidosis, Lactic / enzymology*
  • Acidosis, Lactic / urine
  • Amino Acid Oxidoreductases / deficiency
  • Amino Acid Oxidoreductases / genetics*
  • Fatty Acid Desaturases / deficiency
  • Fatty Acid Desaturases / genetics*
  • Humans
  • Malonates / urine
  • Phenotype

Substances

  • Malonates
  • ethylmalonic acid
  • Fatty Acid Desaturases
  • Amino Acid Oxidoreductases