(Q42863605)
English
congenital bile acid synthesis defect 1
Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption
- CBAS1
- congenital bile acid synthesis defect type 1
- BASD1
- BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1; CBAS1
- BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1
- Bile Acid Synthesis Defect, Congenital, type 1
- 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
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