Congenital bile acid synthesis defect type 1

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Name:
Congenital bile acid synthesis defect type 1
Description:
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.
ORPHAcode:
79301
Synonyms:
3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
BASD1
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Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14