Prenatal diagnosis of combined methylmalonic aciduria and homocystinuria (cobalamin CblC or CblD mutant)

Prenat Diagn. 1994 May;14(5):417-8. doi: 10.1002/pd.1970140517.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / deficiency*
  • Cobamides / biosynthesis
  • Female
  • Homocystinuria / diagnosis*
  • Humans
  • Infant
  • Male
  • Methylmalonic Acid / urine*
  • Methylmalonyl-CoA Mutase / deficiency*
  • Pregnancy
  • Prenatal Diagnosis*
  • Vitamin B 12 / analogs & derivatives
  • Vitamin B 12 / biosynthesis

Substances

  • Cobamides
  • Methylmalonic Acid
  • mecobalamin
  • 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase
  • Methylmalonyl-CoA Mutase
  • cobamamide
  • Vitamin B 12