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Results 1 - 9 of 9 for Bile acid synthesis "defect," "congenital," 2
  1. Congenital bile acid synthesis defect type 2 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2; CBAS2 PubMed Clayton PT. Disorders of bile acid ...
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-2 - Genetics
  2. AKR1D1 gene 
    ... the AKR1D1 gene have been found to cause congenital bile acid synthesis defect type 2. This condition is characterized by cholestasis, a condition ... absorbed, leading to the signs and symptoms of congenital bile acid synthesis defect type 2. More About This Health Condition 3-oxo-5- ...
    https://medlineplus.gov/genetics/gene/akr1d1 - Genetics
  3. Liver Diseases (National Library of Medicine)  
    Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. There are many kinds of liver diseases: ...
    https://medlineplus.gov/liverdiseases.html - Health Topics
  4. AMACR gene 
    ... neurological symptoms seen in adults with AMACR deficiency. 2-methylacyl-CoA racemase AMACR_HUMAN AMACRD CBAS4 RACE RM Tests of AMACR PubMed BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4 ALPHA-METHYLACYL-CoA RACEMASE; AMACR NCBI ...
    https://medlineplus.gov/genetics/gene/amacr - Genetics
  5. HSD3B7 gene 
    ... the HSD3B7 gene have been found to cause congenital bile acid synthesis ... mutations delete one or two DNA building blocks (base pairs) from the gene ...
    https://medlineplus.gov/genetics/gene/hsd3b7 - Genetics
  6. NSDHL gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/nsdhl - Genetics
  7. LBR gene 
    ... Different regions (domains) of this protein give it two distinct functions.One ... production (synthesis) of cholesterol. Cholesterol is a lipid (fat) that ...
    https://medlineplus.gov/genetics/gene/lbr - Genetics
  8. Hypothyroidism 
    ... aluminum hydroxide antacids, colestipol, or medicines that bind bile acids. While you are taking thyroid replacement therapy, tell ...
    https://medlineplus.gov/ency/article/000353.htm - Medical Encyclopedia
  9. Definitions of Digestive Terms (International Foundation for Gastrointestinal Disorders)  
    Stomach Disorders/Reference Desk ... Stomach Disorders ... Digestive Diseases/Reference Desk ... Digestive Diseases ... International Foundation for Gastrointestinal Disorders
    https://iffgd.org/resources/medical-definitions-glossary-dictionary - External Health Links