Generalised deficiency of cytochrome b5 reductase in congenital methaemoglobinaemia with mental retardation

Nature. 1975 Dec 18;258(5536):619-20. doi: 10.1038/258619a0.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Cytochrome Reductases / deficiency*
  • Cytochrome-B(5) Reductase / deficiency
  • Dihydrolipoamide Dehydrogenase / deficiency
  • Erythrocytes / enzymology
  • Female
  • Humans
  • Infant
  • Intellectual Disability / complications
  • Intellectual Disability / enzymology*
  • Leukocytes / enzymology
  • Liver / enzymology
  • Methemoglobinemia / complications
  • Methemoglobinemia / enzymology*
  • Methemoglobinemia / genetics
  • Muscles / enzymology
  • Skin / enzymology

Substances

  • Cytochrome Reductases
  • Cytochrome-B(5) Reductase
  • Dihydrolipoamide Dehydrogenase