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10/21/2021 8:44:05 AM | Browse: 172 | Download: 369
Publication Name World Journal of Clinical Cases
Manuscript ID 68750
Country China
Received
2021-06-03 06:52
Peer-Review Started
2021-06-03 06:55
To Make the First Decision
Return for Revision
2021-06-17 01:01
Revised
2021-06-25 02:08
Second Decision
2021-08-23 02:37
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2021-08-23 03:24
Articles in Press
2021-08-23 03:24
Publication Fee Transferred
Edit the Manuscript by Language Editor
2021-09-11 02:33
Typeset the Manuscript
2021-10-09 03:27
Publish the Manuscript Online
2021-10-21 08:44
ISSN 2307-8960 (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.
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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 Clinical Neurology
Manuscript Type Case Report
Article Title Emergence of lesions outside of the basal ganglia and irreversible damage to the basal ganglia with a severe β-ketothiolase deficiency: A case report
Manuscript Source Unsolicited Manuscript
All Author List Jun Guo, Dan Ren, Zhong-Jie Guo, Jing Yu, Fu Liu, Rong-Xiang Zhao and Yu Wang
ORCID
Author(s) ORCID Number
Jun Guo http://orcid.org/0000-0002-8170-4928
Dan Ren http://orcid.org/0000-0002-5252-8910
Zhong-Jie Guo http://orcid.org/0000-0002-9484-2457
Jing Yu http://orcid.org/0000-0002-8591-1684
Fu Liu http://orcid.org/0000-0003-0723-4670
Rong-Xiang Zhao http://orcid.org/0000-0001-7689-7289
Yu Wang http://orcid.org/0000-0002-3188-5409
Funding Agency and Grant Number
Corresponding Author Yu Wang, MD, Doctor, Department of Pharmacy, Mianyang Central Hospital, School of Medicine, University of Electronic Science and Technology of China, No. 12 Changjia Alley, Jingzhong Street, Mianyang 621000, Sichuan Province, China. sidalin198521@126.com
Key Words Life-threatening symptoms; Severe β-ketothiolase deficiency; Lesions outside of the basal ganglia; Irreversible damage to the basal ganglia; Magnetic resonance imaging; A new mutation; Case report
Core Tip In our report, abnormal signals with a nodular shape were not only found in the bilateral basal ganglia (the lesions were mainly located in the corpus striatum),but were also found in the bilateral cerebral peduncle and mesencephalon. These severe and extensive lesions cause the irreversible damage to the basal ganglia finally. It is suggested that the range of lesions in some patients may be more extensive than previously thought. In addition, two unusual mutations (c.478C>G; c.951C>T) may associate with this disease. As the clinical symptoms at the first onset were life-threatening with the extensive lesions, it is imperative that clinicians take notice when these two mutations appear in gene sequences.
Publish Date 2021-10-21 08:44
Citation Guo J, Ren D, Guo ZJ, Yu J, Liu F, Zhao RX, Wang Y. Emergence of lesions outside of the basal ganglia and irreversible damage to the basal ganglia with a severe β-ketothiolase deficiency: A case report. World J Clin Cases 2021; 9(30): 9276-9284
URL https://www.wjgnet.com/2307-8960/full/v9/i30/9276.htm
DOI https://dx.doi.org/10.12998/wjcc.v9.i30.9276
Full Article (PDF) WJCC-9-9276.pdf
Full Article (Word) WJCC-9-9276.docx
CARE Checklist–2016 68750-CARE-Checklist–2016-revision.docx
Manuscript File 68750_Auto_Edited-JPY_WangTQ.docx
Answering Reviewers 68750-Answering reviewers.pdf
Audio Core Tip 68750-Audio core tip.m4a
Conflict-of-Interest Disclosure Form 68750-Conflict-of-interest statement.pdf
Copyright License Agreement 68750-Copyright license agreement.pdf
Signed Informed Consent Form(s) or Document(s) 68750-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 68750-Language certificate.pdf
Peer-review Report 68750-Peer-review(s).pdf
Scientific Misconduct Check 68750-Bing-Wang JJ-2.png
Scientific Misconduct Check 68750-Scientific misconduct check.pdf
Scientific Editor Work List 68750-Scientific editor work list.pdf