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Articles Published Processes
1/20/2021 12:47:16 PM | Browse: 346 | Download: 881
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Received |
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2020-07-12 02:01 |
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Peer-Review Started |
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2020-07-12 02:02 |
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To Make the First Decision |
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Return for Revision |
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2020-11-26 04:55 |
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Revised |
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2020-12-02 14:59 |
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Second Decision |
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2020-12-07 09:56 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2020-12-10 19:30 |
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Articles in Press |
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2020-12-10 19:30 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2020-12-18 02:00 |
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Typeset the Manuscript |
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2021-01-13 11:07 |
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Publish the Manuscript Online |
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2021-01-20 12:47 |
| 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 |
Genetics & Heredity |
| Manuscript Type |
Case Report |
| Article Title |
Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Lan-Xiao Cao, Ying Liu, Zhao-Jun Song, Bao-Rong Zhang, Wen-Ying Long and Guo-Hua Zhao |
| ORCID |
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| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Research Foundation of Zhejiang Health |
2020RC061 |
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| Corresponding Author |
Guo-Hua Zhao, MD, Doctor, Doctor, Department of Neurology, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, No. 1 Shangcheng Avenue Yiwu, Yiwu 322000, Zhejiang Province, China. gzhao@zju.edu.cn |
| Key Words |
Sialidosis; Myoclonus; Ataxia; Neuraminidase 1; Case report; Mucolipidoses |
| Core Tip |
Type 1 sialidosis is a rare autosomal recessive lysosomal storage disorder. Very few cases of this condition have been reported in mainland China, which may be partly attributed to an inadequate awareness of lysosomal storage diseases among neurology physicians. This study reports the clinical and molecular characteristics of a Chinese patient with Type 1 sialidosis confirmed by genetic testing. Neuraminidase 1 mutations p.S182G and p.P80L are the common pathogenic variants of all three patients identified in Mainland China from three unrelated families. |
| Publish Date |
2021-01-20 12:47 |
| Citation |
Cao LX, Liu Y, Song ZJ, Zhang BR, Long WY, Zhao GH. Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature. World J Clin Cases 2021; 9(3): 623-631 |
| URL |
https://www.wjgnet.com/2307-8960/full/v9/i3/623.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v9.i3.623 |
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