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Articles Published Processes
9/10/2021 7:23:16 AM | Browse: 193 | Download: 188
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Received |
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2021-04-12 07:13 |
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Peer-Review Started |
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2021-04-12 07:15 |
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To Make the First Decision |
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Return for Revision |
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2021-06-23 10:16 |
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Revised |
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2021-07-04 13:05 |
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Second Decision |
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2021-07-14 03:31 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Company Editor-in-Chief |
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2021-07-14 06:39 |
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Articles in Press |
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2021-07-14 06:39 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2021-07-25 23:12 |
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Typeset the Manuscript |
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2021-09-03 10:29 |
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Publish the Manuscript Online |
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2021-09-10 07:23 |
| 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 |
Pediatrics |
| Manuscript Type |
Case Report |
| Article Title |
Congenital disorder of glycosylation caused by mutation of ATP6AP1 gene (c.1036G>A) in a Chinese infant: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Xia Yang, Zi-Li Lv, Qing Tang, Xiu-Qi Chen, Li Huang, Mei-Xiong Yang, Lian-Cheng Lan and Qing-Wen Shan |
| ORCID |
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| Funding Agency and Grant Number |
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| Corresponding Author |
Qing-Wen Shan, MD, PhD, Professor, Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, No. 6 Shuangyong Road, Nanning 530021, Guangxi Zhuang Autonomous Region, China. shanqw333@163.com |
| Key Words |
Congenital disorders of glycosylation; ATP6AP1 mutation; Hepatopathy; Immunodeficiency; Cognitive impairment; Case report |
| Core Tip |
This article reports on an 8-mo-old male infant with hemizygous pathogenic mutation c.1036G>A (p.E346K) in the ATP6AP1 gene. ATP6AP1-congenital disorders of glycosylation (ATP6AP1-CDG) is a recently identified disease and rarely occurs in Asia. If a patient shows liver, neurological and immune deficiencies, or other multisystem abnormalities, early genetic screening is advised for a definitive diagnosis. This study expands the disease spectrum of ATP6AP1-CDG and improves its understanding. |
| Publish Date |
2021-09-10 07:23 |
| Citation |
Yang X, Lv ZL, Tang Q, Chen XQ, Huang L, Yang MX, Lan LC, Shan QW. Congenital disorder of glycosylation caused by mutation of ATP6AP1 gene (c.1036G>A) in a Chinese infant: A case report. World J Clin Cases 2021; 9(26): 7876-7885 |
| URL |
https://www.wjgnet.com/2307-8960/full/v9/i26/7876.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v9.i26.7876 |
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