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2/21/2019 9:31:55 AM | Browse: 861 | Download: 795
Publication Name World Journal of Gastroenterology
Manuscript ID 43434
Country China
Received
2018-11-13 09:20
Peer-Review Started
2018-11-14 07:47
To Make the First Decision
2018-12-29 01:05
Return for Revision
2018-12-29 02:26
Revised
2019-01-21 16:58
Second Decision
2019-01-25 10:14
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2019-01-26 05:45
Articles in Press
2019-01-26 05:45
Publication Fee Transferred
Edit the Manuscript by Language Editor
2019-01-29 02:02
Typeset the Manuscript
2019-02-20 10:24
Publish the Manuscript Online
2019-02-21 09:31
ISSN 1007-9327 (print) and 2219-2840 (online)
Open Access This 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 Non Commercial (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) 2019. 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 Case Report
Article Title Diagnosis of erythropoietic protoporphyria with severe liver injury: A case report
Manuscript Source Unsolicited Manuscript
All Author List Hui-Min Liu, Guo-Hong Deng, Qing Mao and Xiao-Hong Wang
ORCID
Author(s) ORCID Number
Hui-Min Liu http://orcid.org/0000-0003-4912-2001
Guo-Hong Deng http://orcid.org/0000-0003-1263-7220
Qing Mao http://orcid.org/0000-0003-3138-2104
Xiao-Hong Wang http://orcid.org/0000-0003-3285-9808
Funding Agency and Grant Number
Corresponding Author Xiao-Hong Wang, MD, PhD, Doctor, Professor, Department of Infectious Diseases, Southwest Hospital, Third Military Medical University (Army Medical University), No. 30 Gaotanyanzheng Street, Shapingba District, Chongqing 400038, China. wangxiaohong@tmmu.edu.cn
Key Words Erythropoietic protoporphyria; FECH gene; Severe liver injury; Diagnosis; Case report
Core Tip The diagnosis of erythropoietic protoporphyria (EPP) is often delayed due to the lack of awareness among doctors. The major highlights of this paper are: (1) EPP patients may suffer from severe liver injury and be misdiagnosed for long-term as liver disease of unknown origin. Therefore, EPP screening should be performed in the clinic for patients with hepatitis accompanied by skin symptoms. (2) An invisible inheritance of EPP is difficult to diagnose, especially for patients whose both parents are carriers and have no clinical symptoms. And (3) In the present case, a de novo mutation, c.32_35 dupCCCT (p.Arg13fs), was found to have a possible association with EPP disease.
Publish Date 2019-02-21 09:31
Citation Liu HM, Deng GH, Mao Q, Wang XH. Diagnosis of erythropoietic protoporphyria with severe liver injury: A case report. World J Gastroenterol 2019; 25(7): 880-887
URL https://www.wjgnet.com/1007-9327/full/v25/i7/880.htm
DOI https://dx.doi.org/10.3748/wjg.v25.i7.880
Full Article (PDF) WJG-25-880.pdf
Full Article (Word) WJG-25-880.docx
Manuscript File 43434-Review_Edited.docx
Answering Reviewers 43434-Answering reviewers.pdf
Audio Core Tip 43434-Audio core tip.mp3
Conflict-of-Interest Disclosure Form 43434-Conflict-of-interest statement.pdf
Copyright License Agreement 43434-Copyright license agreement.pdf
Signed Informed Consent Form(s) or Document(s) 43434-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 43434-Language certificate.pdf
Peer-review Report 43434-Peer-review(s).pdf
Scientific Misconduct Check 43434-Scientific misconduct check.pdf
Scientific Editor Work List 43434-Scientific editor work list.pdf