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Bile Acid Synthesis Defect

A congenital or acquired defect in the bile acid biosynthesis, resulting in progressive liver disease.
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
[Clinical feature and genetic analysis of a family affected by congenital bile acid synthesis defect type 2: identification of 2 novel mutations in AKR1D1 gene].
Congenital bile acid synthesis defect type 2 (CBAS2) is an autosomal recessive disorder caused by biallelic mutations of AKR1D1… 
2015
2015
Fat malabsorption due to bile acid synthesis defect.
2010
2010
Reloading against rare liver diseases.
Much of pediatric gastroenterology and hepatology practice involves considering rare diseases in the differential diagnosis of… 
2010
2010
Congenital bile acid synthesis defect and cholestatic liver disease
The etiologies of cholestatic liver disease are various and complicated.Congenital bile acid synthesis defect(CBAS) is about 1%-2… 
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