Formiminotransferase-deficiency syndrome: a new inborn error of folic acid metabolism

Ann Paediatr. 1965;205(1):1-11.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Bone Marrow Cells
  • Chromosomes
  • FIGLU Test*
  • Female
  • Folic Acid / metabolism*
  • Growth
  • Humans
  • Infant
  • Intellectual Disability / etiology
  • Liver / enzymology
  • Liver Function Tests
  • Metabolism, Inborn Errors*
  • Tetrahydrofolate Dehydrogenase*
  • Transferases*

Substances

  • Folic Acid
  • Tetrahydrofolate Dehydrogenase
  • Transferases