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Results 1 - 6 of 6 for Bile acid synthesis "defect," "congenital," 1
  1. Congenital bile acid synthesis defect type 1 
    ... type 1 National Organization for Rare Disorders (NORD) BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1; CBAS1 PubMed Cheng JB, Jacquemin E, Gerhardt M, ...
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-1 - Genetics
  2. HSD3B7 gene 
    ... the HSD3B7 gene have been found to cause congenital bile acid synthesis defect type 1. This condition is characterized by cholestasis, a condition ... absorbed, leading to the signs and symptoms of congenital bile acid synthesis defect type 1. More About This Health Condition 3 beta-hydroxy- ...
    https://medlineplus.gov/genetics/gene/hsd3b7 - Genetics
  3. Congenital bile acid synthesis defect type 2 
    ... synthesis defect type 2 is unknown. Together, all congenital defects of bile acid synthesis are thought to have a prevalence of 1 to 9 per million people. Mutations in the ...
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-2 - Genetics
  4. 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-keto reductase family 1, member D1 delta 4-3-ketosteroid-5-beta- ...
    https://medlineplus.gov/genetics/gene/akr1d1 - Genetics
  5. AMACR gene 
    ... 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
  6. LBR gene 
    ... for the production of acids used in digestion (bile acids).Another region of the lamin B receptor, called ... of the lamin B receptor disrupts the normal synthesis of cholesterol within cells. Absence of this function ...
    https://medlineplus.gov/genetics/gene/lbr - Genetics