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Articles Published Processes
9/29/2022 9:17:29 AM | Browse: 281 | Download: 769
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Received |
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2022-04-27 11:41 |
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Peer-Review Started |
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2022-04-27 11:43 |
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To Make the First Decision |
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Return for Revision |
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2022-06-27 08:26 |
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Revised |
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2022-07-09 13:59 |
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Second Decision |
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2022-09-06 03:20 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2022-09-07 23:35 |
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Articles in Press |
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2022-09-07 23:35 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2022-09-01 03:38 |
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Typeset the Manuscript |
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2022-09-11 09:08 |
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Publish the Manuscript Online |
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2022-09-29 09:17 |
| 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) 2022. 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 |
Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255 + 1G > T splice site mutation: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Yue-Yue Chang, Chuan-Qing Yu and Lei Zhu |
| ORCID |
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| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Key project of Education Department of Anhui Province |
KJ2019A0096 |
| Huainan science and technology planning project |
2016A26(3) |
| Project Research Fund of Anhui University of Science and Technology |
fsyyyb2020-03 |
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| Corresponding Author |
Chuan-Qing Yu, MD, Chief Doctor, Department of Neurology, The First Affiliated Hospital of Anhui University of Science and Technology, First People’s Hospital of Huainan, No. 203 Road, Huainan 232007, Anhui Province, China. yuchuanqing1969@126.com |
| Key Words |
Cerebrotendinous xanthomatosis; CYP27A1 gene; Ataxia; Juvenile cataracts; Tendon xanthoma; Lipid metabolism; Case report |
| Core Tip |
Our study was to screen in a case delayed diagnosis to result in severe neurological impairment with cerebrotendinous xanthomatosis (CTX) for CYP27A1 gene mutation, and detected one rare mutation and one known mutation. CTX imultidisciplinary diagnosis that must be made early to avoid neurologic injury and worsening. This finding also provides new data for further revealing the pathogenesis of xanthomatosis, enriching the pathogenic mutation spectrum of CYP27A1 gene and molecular diagnosis of the disease, which is of great significance for fertility guidance and prenatal diagnosis of this patient in the future. |
| Publish Date |
2022-09-29 09:17 |
| Citation |
Chang YY, Yu CQ, Zhu L. Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255 + 1G > T splice site mutation in the CYP27A1 gene: A case report. World J Clin Cases 2022; 10(29): 10681-10688 |
| URL |
https://www.wjgnet.com/2307-8960/full/v10/i29/10681.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v10.i29.10681 |
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