A new case of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency

J Inherit Metab Dis. 1987;10(4):399. doi: 10.1007/BF01799984.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromatography, Thin Layer
  • Fibroblasts / enzymology
  • Humans
  • Leucine
  • Male
  • Oxo-Acid-Lyases / deficiency*
  • Oxo-Acid-Lyases / metabolism

Substances

  • Oxo-Acid-Lyases
  • 3-hydroxy-3-methylglutaryl-coenzyme A lyase
  • Leucine