Clinical and genetic features of congenital bile acid synthesis defect with a novel mutation in AKR1D1 gene sequencing-Reference-Cited by-同舟云学术

Clinical and genetic features of congenital bile acid synthesis defect with a novel mutation in AKR1D1 gene sequencing

Published:2022-06-24 Issue:25 Volume:101 Page:e29476
ISSN:0025-7974
Container-title:Medicine
language:en
Short-container-title:

Author:

Pham Anh-Hoa Nguyen,Thi Kim-Oanh Bui,Thi Mai-Huong Nguyen,Ngo Diem-Ngoc,Naritaka Nakayuki,Nittono Hiroshi,Hayashi Hisamitsu,Dao Trang Thi,Nguyen Kim-Huong Thi,Nguyen Hoai-Nghia,Giang Hoa,Tang Hung-Sang,Nguyen Tat-Thanh,Truong Dinh-Kiet,Tran Minh-Dien

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference18 articles.

1. Characterization of disease-related 5 beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency;Drury;J Biol Chem,2010

2. Cloning and expression of cDNA of human delta 4-3-oxosteroid 5 beta-reductase and substrate specificity of the expressed enzyme;Kondo;Eur J Biochem,1994

3. Bile acid analyses in “pseudo-Zellweger” syndrome; clues to the defect in peroxisomal beta-oxidation;Clayton;J Inherit Metab Dis,1988

4. 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

5. Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment;Seki;J Inherit Metab Dis,2013

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1. ∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid;Orphanet Journal of Rare Diseases;2023-12-07