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Articles Published Processes
10/21/2022 2:24:59 AM | Browse: 308 | Download: 734
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Received |
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2022-05-29 16:51 |
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Peer-Review Started |
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2022-05-29 16:54 |
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To Make the First Decision |
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Return for Revision |
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2022-06-27 09:07 |
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Revised |
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2022-07-08 17:37 |
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Second Decision |
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2022-09-13 03:39 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2022-09-14 09:50 |
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Articles in Press |
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2022-09-14 09:50 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2022-09-07 00:07 |
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Typeset the Manuscript |
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2022-10-07 02:10 |
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Publish the Manuscript Online |
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2022-10-21 02:24 |
| 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: https://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 |
Child with adenylosuccinate lyase deficiency caused by a novel complex heterozygous mutation in the ADSL gene: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Xing-Chen Wang, Ting Wang, Rui-Han Liu, Yan Jiang, Dan-Dan Chen, Xin-Yu Wang and Qing-Xia Kong |
| ORCID |
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| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Natural Science Foundation of Shandong Province |
No. ZR2019MH060 |
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| Corresponding Author |
Qing-Xia Kong, PhD, Chief Physician, Doctor, Doctor, Department of Neurology, Affiliated Hospital of Jining Medical University, No 89 Guhuai Road, Jining 272000, Shandong Province, China. kxdqy8@sohu.com |
| Key Words |
Adenylosuccinate lyase deficiency; Compound heterozygous mutations; Epilepsy; Pathogenic mutation; Case report |
| Core Tip |
A child presented with comprehensive developmental delay and epilepsy. Whole-exon sequencing revealed the presence of a novel complex heterozygous mutation in the adenylosuccinate lyase (ADSL) gene. Bioinformatics analysis suggested that the mutation caused ADSL deficiency. |
| Publish Date |
2022-10-21 02:24 |
| Citation |
Wang XC, Wang T, Liu RH, Jiang Y, Chen DD, Wang XY, Kong QX. Child with adenylosuccinate lyase deficiency caused by a novel complex heterozygous mutation in the ADSL gene: A case report. World J Clin Cases 2022; World J Clin Cases 2022; 10(30): 11082-11089 |
| URL |
https://www.wjgnet.com/2307-8960/full/v10/i30/11082.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v10.i30.11082 |
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