Attempt to Determine the Prevalence of Two Inborn Errors of Primary Bile Acid Synthesis: Results of a European Survey-Reference-Cited by-同舟云学术

Attempt to Determine the Prevalence of Two Inborn Errors of Primary Bile Acid Synthesis: Results of a European Survey

Published:2017-06 Issue:6 Volume:64 Page:864-868
ISSN:0277-2116
Container-title:Journal of Pediatric Gastroenterology & Nutrition
language:en
Short-container-title:

Author:

Jahnel Jörg,Zöhrer Evelyn,Fischler Björn,D’Antiga Lorenzo,Debray Dominique,Dezsofi Antal,Haas Dorothea,Hadzic Nedim,Jacquemin Emmanuel,Lamireau Thierry,Maggiore Giuseppe,McKiernan Pat J.,Calvo Pier L.,Verkade Henkjan J.,Hierro Loreto,McLin Valerie,Baumann Ulrich,Gonzales Emmanuel

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Gastroenterology,Pediatrics, Perinatology and Child Health

Reference19 articles.

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2. Delta 4-3-oxosteroid 5 beta-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis;Setchell;J Clin Invest,1988

3. The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis;Schwarz;J Clin Invest,2000

4. Molecular genetics of 3beta-hydroxy-delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease;Cheng;J Clin Endocrinol Metab,2003

5. Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy;Lemonde;Gut,2003

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