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Results 1 - 3 of 3 for Congenital bile acid synthesis defect 4
  1. ... in infants with a life-threatening disorder called congenital bile acid synthesis defect type 4. Babies with this disorder have cholestasis, which is ...
  2. ... absorbed, leading to the signs and symptoms of congenital bile acid synthesis defect type 2. More About This Health Condition 3-oxo-5-beta-steroid 4-dehydrogenase 3o5bred 5-beta-reductase AK1D1_HUMAN aldo- ...
  3. ... which converts 7alpha(α)-hydroxycholesterol to 7α-hydroxy-4-cholesten-3-one. At least 17 mutations in the HSD3B7 gene have been found to cause congenital bile acid synthesis defect type 1. This condition is characterized by cholestasis, ...