AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases-Reference-Cited by-同舟云学术

AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases

Published:2020-02 Issue:1 Volume:61 Page:75-83
ISSN:1875-9572
Container-title:Pediatrics & Neonatology
language:en
Short-container-title:Pediatrics & Neonatology

Author:

Chen Ju-Yin,Wu Jia-Feng,Kimura Akihiko,Nittono Hiroshi,Liou Bang-Yu,Lee Chee-Seng,Chen Ho-Sheng,Chiu Yu-Chun,Ni Yen-Hsuan,Peng Steven Shinn-Forng,Lee Wang-Tso,Tsai I-Jung,Chang Mei-Hwei,Chen Huey-Ling

Funder

Ministry of Science and Technology, Taiwan

National Taiwan University Hospital

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference26 articles.

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3. The role of canalicular ABC transporters in cholestasis;Cuperus;Drug Metab Dispos,2014

4. Bile acid synthetic defects and liver disease: a comprehensive review;Bove;Pediatr Dev Pathol,2004

5. Mechanisms of disease: inborn errors of bile acid synthesis;Sundaram;Nat Clin Pract Gastroenterol Hepatol,2008

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4. Recurrent AKR1D1 c.580-13T>A Variant;The Journal of Molecular Diagnostics;2023-04

5. Germline Mutations in Steroid Metabolizing Enzymes: A Focus on Steroid Transforming Aldo-Keto Reductases;International Journal of Molecular Sciences;2023-01-18