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Articles Published Processes
5/5/2024 10:11:22 AM | Browse: 72 | Download: 365
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Received |
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2024-02-07 05:22 |
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Peer-Review Started |
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2024-02-07 05:22 |
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To Make the First Decision |
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Return for Revision |
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2024-03-02 06:58 |
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Revised |
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2024-03-08 02:35 |
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Second Decision |
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2024-03-28 06:50 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2024-03-28 07:40 |
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Articles in Press |
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2024-03-28 07:40 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2024-04-25 02:49 |
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Publish the Manuscript Online |
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2024-05-05 10:11 |
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) 2024. 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 |
Detection of LAMA2 c.715C>G:p.R239G mutation in a newborn with raised creatine kinase: A case report
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Manuscript Source |
Unsolicited Manuscript |
All Author List |
Jing Yuan and Xiang-Ming Yan |
ORCID |
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Funding Agency and Grant Number |
Funding Agency |
Grant Number |
The Suzhou Science and Technology Development Plan Guiding Project |
SZSYYXH-2023-YB5 |
The Suzhou Science and Technology Development Plan Project |
SKY2023002 |
The Suzhou Key Laboratory of Children's Structural Deformities |
SZS2022018 |
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Corresponding Author |
Xiang-Ming Yan, MD, Chief Doctor, Department of Surgery, Children's Hospital of Soochow University, No. 92 Zhong Nan Street, Industrial Park, Suzhou 215000, Jiangsu Province, China. yxmsz2003@163.com |
Key Words |
Creatine kinase; LAMA2; Gene mutation; Neonate; Case report |
Core Tip |
We analyzed the case of a neonate who appeared with only evelated creatine kinase (CK) and eventually was discharged after supportive treatment. The age of admission was 18 d, and the increased CK did not improve significantly after prolonged treatment with creatine and vitamin C. Whole exome sequencing identified the mutation of c.715C>G on LAMA2 in the newborn, which is associated with clinical phenotype. |
Publish Date |
2024-05-05 10:11 |
Citation |
Yuan J, Yan XM. Detection of LAMA2 c.715C>G:p.R239G mutation in a newborn with raised creatine kinase: A case report. World J Clin Cases 2024; 12(14): 2445-2450 |
URL |
https://www.wjgnet.com/2307-8960/full/v12/i14/2445.htm |
DOI |
https://dx.doi.org/10.12998/wjcc.v12.i14.2445 |
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