Familial NADH: Q1 oxidoreductase (complex I) deficiency: variable expression and possible treatment

J Inherit Metab Dis. 1989:12 Suppl 2:349-51. doi: 10.1007/BF03335419.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Biomarkers / blood
  • Child, Preschool
  • Consanguinity
  • Humans
  • Lactates / blood
  • Liver / enzymology
  • Male
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / drug therapy
  • Metabolism, Inborn Errors / genetics
  • Muscles / enzymology
  • NAD(P)H Dehydrogenase (Quinone)
  • Quinone Reductases / deficiency*
  • Vitamin K / therapeutic use

Substances

  • Biomarkers
  • Lactates
  • Vitamin K
  • NAD(P)H Dehydrogenase (Quinone)
  • Quinone Reductases