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Results 1 - 8 of 8 for Congenital bile acid synthesis defect 3
  1. ... 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- ...
  2. ... 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 ...
  3. ... million people. Mutations in the AKR1D1 gene cause congenital bile acid synthesis defect type 2. The AKR1D1 gene provides instructions for making an enzyme called 3-oxo-5- beta(β)-steroid 4-dehydrogenase. This ...
  4. ... million people. Mutations in the HSD3B7 gene cause congenital bile acid synthesis defect type 1. The HSD3B7 gene provides instructions for making an enzyme called 3 beta-hydroxysteroid dehydrogenase type 7 (3β-HSD7). This ...
  5. ... 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 ...
  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 ...
  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