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Articles Published Processes
10/21/2021 8:44:05 AM | Browse: 242 | Download: 644
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Received |
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2021-06-03 06:52 |
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Peer-Review Started |
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2021-06-03 06:55 |
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To Make the First Decision |
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Return for Revision |
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2021-06-17 01:01 |
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Revised |
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2021-06-25 02:08 |
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Second Decision |
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2021-08-23 02:37 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2021-08-23 03:24 |
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Articles in Press |
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2021-08-23 03:24 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2021-09-11 02:33 |
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Typeset the Manuscript |
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2021-10-09 03:27 |
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Publish the Manuscript Online |
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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. |
Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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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
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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 |
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Funding Agency and Grant Number |
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Corresponding Author |
Yu Wang, MD, Doctor, 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 |
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