Cholestatic liver disease in adults may be due to an inherited defect in bile acid biosynthesis
Author:
Publisher
Wiley
Subject
Internal Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2796.2007.01814.x/fullpdf
Reference15 articles.
1. Familial giant cell hepatitis associated with synthesis of 3 beta, 7 alpha-dihydroxy-and 3 beta,7 alpha, 12 alpha-trihydroxy-5-cholenoic acids.
2. Bile acids and bile alcohols in a child with hepatic 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency: effects of chenodeoxycholic acid treatment
3. Lack of 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase/isomerase in fibroblasts from a child with urinary excretion of 3 beta-hydroxy-delta 5-bile acids. A new inborn error of metabolism.
4. The bile acid synthetic gene 3β-hydroxy-Δ5-C27-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis
5. Molecular Genetics of 3β-Hydroxy-Δ5-C27-Steroid Oxidoreductase Deficiency in 16 Patients with Loss of Bile Acid Synthesis and Liver Disease
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5. Use of a Comprehensive 66-Gene Cholestasis Sequencing Panel in 2171 Cholestatic Infants, Children, and Young Adults;Journal of Pediatric Gastroenterology & Nutrition;2021-02-22
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