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Results 1 - 5 of 5 for Congenital bile acid synthesis defect 5
  1. Congenital bile acid synthesis defect type 1 
    ... 5-C27-steroid dehydrogenase deficiency 3beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency CBAS1 Genetic Testing Registry: Congenital bile acid synthesis defect 1 Congenital bile acid synthesis defect type 1 ...
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-1 - Genetics
  2. Congenital bile acid synthesis defect type 2 
    ... condition. CBAS2 Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency Genetic Testing Registry: Congenital bile acid synthesis defect 2 Congenital bile acid synthesis defect type 2 ...
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-2 - Genetics
  3. AKR1D1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/akr1d1 - Genetics
  4. HSD3B7 gene 
    ... absorbed, leading to the signs and symptoms of congenital bile acid synthesis defect type 1. More About This Health Condition 3 beta-hydroxy-delta 5-C27-steroid oxidoreductase 3 beta-hydroxysteroid dehydrogenase type ...
    https://medlineplus.gov/genetics/gene/hsd3b7 - Genetics
  5. AMACR gene 
    ... in infants with a life-threatening disorder called congenital bile acid synthesis defect type 4. Babies with this disorder have cholestasis, ... first few months of life.Some researchers consider congenital bile acid synthesis defect type 4 and AMACR deficiency (see above) to ...
    https://medlineplus.gov/genetics/gene/amacr - Genetics