A Case of Wilson's Disease Suspected to Involve a Novel Genetic Mutation of ATP7B Gene, Requiring a Differential Diagnosis with Non-alcoholic Steatohepatitis-Reference-Cited by-同舟云学术

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A Case of Wilson's Disease Suspected to Involve a Novel Genetic Mutation of ATP7B Gene, Requiring a Differential Diagnosis with Non-alcoholic Steatohepatitis

Published:2024 Issue: Volume: Page:
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Minemura Masami¹²,Fukuda Rei³,Tajiri Kazuto¹,Muraishi Nozomu¹,Murayama Aiko¹,Hayashi Yuka¹,Takahara Terumi¹,Noguchi Akira⁴,Yasuda Ichiro¹

Affiliation:

1. Department of Gastroenterology, Toyama University Hospital, Japan

2. Department of Community Medical Support, Toyama University Hospital, Japan

3. Department of Clinical Genetics, Toyama University Hospital, Japan

4. Department of Diagnostic Pathology, Toyama University Hospital, Japan

Publisher

Japanese Society of Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_3673-24/_pdf

Reference22 articles.

1. 1. Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: An update. Hepatology 47: 2089-2111, 2008.

2. 2. EASL Clinical Practice Guidelines: Wilson's disease. J Hepatol 56: 671-685, 2012.

3. 3. Harada M. Pathogenesis and management of Wilson disease. Hepatol Res 44: 395-402, 2014.

4. 4. Sandahl TD, Laursen TL, Munk DE, Vilstrup H, Weiss KH, Ott P. The prevalence of Wilson's disease: An update. Hepatology 71: 722-732, 2020.

5. 5. Wattacheril J, Shea PR, Mohammad S, et al. Exome sequencing of an adolescent with nonalcoholic fatty liver disease identifies a clinically actionable case of Wilson disease. Cold Spring Harb Mol Case Stud 4: 2018.

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