Homocystinuria with methylmalonic aciduria: two cases in a sibship

Biochem Med. 1970 Dec;4(5):500-15. doi: 10.1016/0006-2944(70)90080-3.
No abstract available

MeSH terms

  • Adolescent
  • Carbon Isotopes
  • Child, Preschool
  • Coenzyme A
  • Female
  • Fibroblasts / drug effects
  • Fibroblasts / enzymology
  • Fibroblasts / metabolism
  • Folic Acid
  • Homocysteine
  • Homocystinuria*
  • Humans
  • Hydroxocobalamin / pharmacology
  • Isomerases / analysis
  • L-Serine Dehydratase / analysis
  • Male
  • Malonates / urine*
  • Methionine / blood
  • Methionine / pharmacology
  • Methyltransferases / analysis
  • Pedigree
  • Propionates / metabolism
  • Skin
  • Vitamin B 12 / metabolism

Substances

  • Carbon Isotopes
  • Malonates
  • Propionates
  • Homocysteine
  • Folic Acid
  • Methionine
  • Methyltransferases
  • L-Serine Dehydratase
  • Isomerases
  • Vitamin B 12
  • Hydroxocobalamin
  • Coenzyme A