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Results 1 - 2 of 2 for Bile acid synthesis "defect," "congenital," 1
  1. ... type 1 National Organization for Rare Disorders (NORD) BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1; CBAS1 PubMed Cheng JB, Jacquemin E, Gerhardt M, ...
  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 ...