Prenatal diagnosis of 6-pyruvoyl tetrahydropterin synthase deficiency in seven subjects

J Inherit Metab Dis. 1994;17(1):163-6. doi: 10.1007/BF00735427.
No abstract available

MeSH terms

  • Alcohol Oxidoreductases / deficiency*
  • Amniotic Fluid / enzymology
  • Amniotic Fluid / metabolism
  • Asia
  • Biopterins / analogs & derivatives
  • Biopterins / metabolism
  • Female
  • Fetal Diseases / diagnosis*
  • Humans
  • Neopterin
  • Phosphorus-Oxygen Lyases*
  • Pregnancy
  • Prenatal Diagnosis*
  • Taiwan

Substances

  • Biopterins
  • Neopterin
  • Alcohol Oxidoreductases
  • Phosphorus-Oxygen Lyases
  • 6-pyruvoyltetrahydropterin synthase