congenital bile acid synthesis defect (Q9398222)

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steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver
  • 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
  • CBA
  • cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency
  • BASD
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English
congenital bile acid synthesis defect
steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver
  • 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
  • CBA
  • cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency
  • BASD

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