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Results 1 - 5 of 5 for Congenital bile acid synthesis defect
  1. Congenital bile acid synthesis defect type 1 
    Congenital bile acid synthesis defect type 1 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid ...
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-1 - Genetics
  2. Congenital bile acid synthesis defect type 2 
    Congenital bile acid synthesis defect type 2 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid ...
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-2 - Genetics
  3. 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
  4. AKR1D1 gene 
    ... the AKR1D1 gene have been found to cause congenital bile acid synthesis defect type 2. This condition is characterized by cholestasis, ... absorbed, leading to the signs and symptoms of congenital bile acid synthesis defect type 2. More About This Health Condition 3- ...
    https://medlineplus.gov/genetics/gene/akr1d1 - Genetics
  5. HSD3B7 gene 
    ... the HSD3B7 gene have been found to cause congenital bile acid synthesis defect type 1. This condition is characterized by cholestasis, ... absorbed, leading to the signs and symptoms of congenital bile acid synthesis defect type 1. More About This Health Condition 3 ...
    https://medlineplus.gov/genetics/gene/hsd3b7 - Genetics