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10/22/2021 1:53:28 PM | Browse: 340 | Download: 658
Publication Name World Journal of Hepatology
Manuscript ID 67651
Country Romania
Received
2021-04-30 12:11
Peer-Review Started
2021-04-30 12:14
To Make the First Decision
Return for Revision
2021-06-20 09:45
Revised
2021-06-23 16:10
Second Decision
2021-09-03 03:06
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2021-09-03 10:36
Articles in Press
2021-09-03 10:36
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2021-10-20 01:32
Publish the Manuscript Online
2021-10-22 13:53
ISSN 1948-5182 (online)
Open Access This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Copyright © The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Gastroenterology & Hepatology
Manuscript Type Retrospective Study
Article Title Acute liver failure with hemolytic anemia in children with Wilson’s disease: Genotype-phenotype correlations?
Manuscript Source Invited Manuscript
All Author List Tudor Lucian Pop, Alina Grama, Ana Cristina Stefanescu, Claudia Willheim and Peter Ferenci
ORCID
Author(s) ORCID Number
Tudor Lucian Pop http://orcid.org/0000-0002-4931-1219
Alina Grama http://orcid.org/0000-0001-7022-6345
Ana Cristina Stefanescu http://orcid.org/0000-0002-0520-3937
Claudia Willheim http://orcid.org/0000-0002-9708-9421
Peter Ferenci http://orcid.org/0000-0003-2306-1992
Funding Agency and Grant Number
Corresponding Author Tudor Lucian Pop, MD, PhD, Associate Professor, 2nd Pediatric Discipline, Department of Mother and Child, Iuliu Hatieganu University of Medicine and Pharmacy, Str. Crisan nr 5, Cluj-Napoca 400177, Romania. tudor.pop@umfcluj.ro
Key Words Wilson’s disease; Children; Acute liver failure; Hemolytic anemia; ATP7B variant; Genotype-phenotype correlation
Core Tip Acute liver failure (ALF) and hemolytic anemia represent the most severe presentation of Wilson’s disease (WD) in children, with a possible fatal evolution. There is no definite genotype-phenotype correlation in WD, but many studies try to solve this puzzle. Our research reports a higher presence of a missense [p.Trp939Cys (c.2817G>T)] and frame-shift variant [p.Lys844Ter (c.2530A>T)] in children with ALF and hemolytic anemia, while in less severe form, p.His1069Gln (c.3207A>G) was more frequent. HSD17B13:TA variant may be associated with less severe liver disease, as it was proved to have a protective role against liver toxins.
Publish Date 2021-10-22 13:53
Citation Pop TL, Grama A, Stefanescu AC, Willheim C, Ferenci P. Acute liver failure with hemolytic anemia in children with Wilson’s disease: Genotype-phenotype correlations? World J Hepatol 2021; 13(10): 1428-1438
URL https://www.wjgnet.com/1948-5182/full/v13/i10/1428.htm
DOI https://dx.doi.org/10.4254/wjh.v13.i10.1428
Full Article (PDF) WJH-13-1428.pdf
Full Article (Word) WJH-13-1428.docx
Manuscript File 67651_Auto_Edited-JPY.docx
Answering Reviewers 67651-Answering reviewers.pdf
Audio Core Tip 67651-Audio core tip.m4a
Biostatistics Review Certificate 67651-Biostatistics statement.pdf
Conflict-of-Interest Disclosure Form 67651-Conflict-of-interest statement.pdf
Copyright License Agreement 67651-Copyright license agreement.pdf
Signed Informed Consent Form(s) or Document(s) 67651-Informed consent statement.pdf
Institutional Review Board Approval Form or Document 67651-Institutional review board statement.pdf
Non-Native Speakers of English Editing Certificate 67651-Language certificate.pdf
Peer-review Report 67651-Peer-review(s).pdf
Scientific Misconduct Check 67651-Bing-Liu M-1.png
Scientific Misconduct Check 67651-Bing-Fan JR-2.png
Scientific Misconduct Check 67651-Scientific misconduct check.pdf
Scientific Editor Work List 67651-Scientific editor work list.pdf