3beta-hydroxy-delta5-C27-steroid dehydrogenase/isomerase deficiency in a 23-year-old woman

Pediatr Int. 2000 Dec;42(6):685-8. doi: 10.1046/j.1442-200x.2000.01292.x.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • 3-Hydroxysteroid Dehydrogenases / deficiency*
  • Adult
  • Chenodeoxycholic Acid / therapeutic use
  • Cholic Acid / therapeutic use
  • Female
  • Humans
  • Liver / pathology
  • Liver Cirrhosis / diagnosis
  • Liver Cirrhosis / etiology*
  • Metabolism, Inborn Errors / complications
  • Metabolism, Inborn Errors / diagnosis
  • Metabolism, Inborn Errors / drug therapy
  • Steroid Isomerases / deficiency
  • Ursodeoxycholic Acid / therapeutic use
  • Vitamin K Deficiency / diagnosis

Substances

  • Chenodeoxycholic Acid
  • Ursodeoxycholic Acid
  • 3-Hydroxysteroid Dehydrogenases
  • Steroid Isomerases
  • Cholic Acid