BPG is committed to discovery and dissemination of knowledge
Articles Published Processes
9/10/2021 7:23:16 AM | Browse: 536 | Download: 1157
 |
Received |
|
2021-04-12 07:13 |
|
Peer-Review Started |
|
2021-04-12 07:15 |
|
First Decision by Editorial Office Director |
|
2021-06-23 06:13 |
|
Return for Revision |
|
2021-06-23 10:16 |
|
Revised |
|
2021-07-04 13:05 |
 |
Publication Fee Transferred |
|
|
|
Second Decision by Editor |
|
2021-07-14 03:31 |
|
Second Decision by Editor-in-Chief |
|
|
|
Final Decision by Editorial Office Director |
|
2021-07-14 06:39 |
|
Articles in Press |
|
2021-07-14 06:39 |
|
Edit the Manuscript by Language Editor |
|
2021-07-25 23:12 |
|
Typeset the Manuscript |
|
2021-09-03 10:29 |
|
Publish the Manuscript Online |
|
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
|
| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
|
| 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
|
| 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 |
|
| Funding Agency and Grant Number |
|
| 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 |
All content on this site: Copyright © 1993-2026 Baishideng Publishing Group Inc, its licensors, and contributors. All rights are reserved, including those for text and data mining, AI training, and similar technologies. For all open access content, the relevant licensing terms apply.
