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Results 1 - 5 of 5 for Congenital bile acid synthesis defect 4
  1. AMACR gene 
    ... in infants with a life-threatening disorder called congenital bile acid synthesis defect type 4. Babies with this disorder have cholestasis, which is ...
    https://medlineplus.gov/genetics/gene/amacr - Genetics
  2. Congenital bile acid synthesis defect type 2 
    ... Interact. 2011 May 30;191(1-3):250-4. doi: 10.1016/j.cbi.2010.12.020. Epub 2010 Dec 24. Citation on PubMed or Free article on PubMed Central
    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 AK1D1_HUMAN aldo- ...
    https://medlineplus.gov/genetics/gene/akr1d1 - Genetics
  4. HSD3B7 gene 
    ... 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, ...
    https://medlineplus.gov/genetics/gene/hsd3b7 - Genetics
  5. Congenital bile acid synthesis defect type 1 
    ... Organization for Rare Disorders (NORD) BILE ACID SYNTHESIS ... bile acid synthesis and liver disease. J Clin Endocrinol Metab. 2003 Apr;88(4):1833-41. doi: 10.1210/jc.2002-021580. ...
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-1 - Genetics