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Results 1 - 8 of 8 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. ... 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
  3. ... 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- ...
  4. ... 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, ...
  5. ... 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. ...
  6. ... for the production of acids used in digestion (bile acids). At least 18 mutations in the NSDHL gene have been found to cause congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome). Most of these mutations change single ...
  7. ... lithium and amiodarone, and some types of chemotherapy Congenital (birth) defects Radiation treatments to the neck or brain to ... taking it in the daytime. Wait at least 4 hours after taking ... acids. While you are taking thyroid replacement therapy, tell ...
  8. Definitions of Digestive Terms (International Foundation for Gastrointestinal Disorders)  
    Digestive Diseases/Reference Desk ... Digestive Diseases ... Stomach Disorders/Reference Desk ... Stomach Disorders ... International Foundation for Gastrointestinal Disorders