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Articles Published Processes
11/6/2020 9:07:38 AM | Browse: 505 | Download: 1300
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Received |
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2020-07-15 11:53 |
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Peer-Review Started |
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2020-07-12 02:04 |
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To Make the First Decision |
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Return for Revision |
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2020-08-08 02:02 |
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Revised |
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2020-08-09 12:49 |
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Second Decision |
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2020-09-22 10:26 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2020-09-22 20:22 |
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Articles in Press |
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2020-09-22 20:22 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2020-09-27 22:51 |
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Typeset the Manuscript |
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2020-11-02 01:19 |
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Publish the Manuscript Online |
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2020-11-06 09:07 |
| 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) 2020. 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 |
Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Lan-Xiao Cao, Mi Yang, Ying Liu, Wen-Ying Long and Guo-Hua Zhao |
| ORCID |
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| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Zhejiang Province Medical Science and Technology Project |
2020RC061 |
| Jinhua Bureau of Science and Technology Project |
2020-3-004 |
| Zhejiang Province Medical Science and Technology Project |
2019ZD021 |
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| Corresponding Author |
Guo-Hua Zhao, MD, Doctor, Doctor, Department of Neurology, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, N1 Shangcheng Avenue Yiwu, Yiwu 322000, Zhejiang Province, China. gzhao@zju.edu.cn |
| Key Words |
Cerebrotendinous xanthomatosis; CYP27A1; Clinical; Genetic; Cholestanol; Case report |
| Core Tip |
Cerebrotendinous xanthomatosis (CTX) is a metabolic disorder inherited in an autosomal recessive manner. 520 CTX case reports published in the literature around the world are reviewed to promote better understanding of the clinical and genetic characteristics of CTX. Cataract is the most common symptom with a frequency of 80.37%, and xanthoma is the second most common systemic symptom of CTX. 56.57% of patients showed electroencephalogram abnormalities including diffuse slowing and 76.72% had abnormal magnetic resonance images. Bilateral hyperintensity of the dentate nuclei and surrounding white matter on T2 and Fluid Attenuated Inversion Recovery sequences is considered a representative radiological feature of CTX. |
| Publish Date |
2020-11-06 09:07 |
| Citation |
Cao LX, Yang M, Liu Y, Long WY, Zhao GH. Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review. World J Clin Cases 2020; 8(21): 5446-5456 |
| URL |
https://www.wjgnet.com/2307-8960/full/v8/i21/5446.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v8.i21.5446 |
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