Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype

J Inherit Metab Dis. 1994;17(3):301-3. doi: 10.1007/BF00711813.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Cytochrome-c Oxidase Deficiency*
  • Fatal Outcome
  • Humans
  • Infant
  • Infant, Newborn
  • Italy
  • Male
  • Malonates / urine*
  • Muscles / enzymology*
  • Phenotype

Substances

  • Malonates
  • ethylmalonic acid