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Articles Published Processes
3/29/2022 11:40:52 AM | Browse: 277 | Download: 801
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Received |
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2021-11-20 01:43 |
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Peer-Review Started |
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2021-11-20 01:45 |
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To Make the First Decision |
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Return for Revision |
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2022-01-11 10:25 |
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Revised |
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2022-01-29 06:51 |
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Second Decision |
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2022-02-17 05:48 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2022-02-20 12:46 |
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Articles in Press |
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2022-02-20 12:46 |
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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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2022-03-22 12:16 |
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Publish the Manuscript Online |
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2022-03-29 11:40 |
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 |
Pediatrics |
Manuscript Type |
Case Report |
Article Title |
Atypical infantile-onset Pompe disease with good prognosis from mainland China: A case report
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Manuscript Source |
Unsolicited Manuscript |
All Author List |
Ying Zhang, Cheng Zhang, Jian-Bo Shu and Fang Zhang |
ORCID |
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Funding Agency and Grant Number |
Funding Agency |
Grant Number |
Tianjin Municipal Health Commission, China |
ZC20060 |
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Corresponding Author |
Ying Zhang, MD, N/A, N/A, Department of Neonatal, Tianjin Children’s Hospital (Tianjin University Children's Hospital), No. 238 Longyan Road, Beichen District, Tianjin 300134, China. yingzhangqh@126.com |
Key Words |
Pompe disease; Rare genetic disease; Enzyme replacement therapy; Infantile-onset Pompe disease; Case report |
Core Tip |
Infantile-onset Pompe disease (IOPD), a form of Pompe disease, is a rare autosomal recessive genetic disease occurred in infants, who represent hypertrophic cardiomyopathy, because of unusual accumulation of glycogen or acid maltase deficiency. More than 90% patients died before 1 year old. In this manuscript, we report a female case which is an atypical IOPD with novel inherited pathogenic heterozygous variants for acid α-glucosidase gene have not been reported before, and the patient has obtained a good prognosis under the enzyme replacement therapy. |
Publish Date |
2022-03-29 11:40 |
Citation |
Zhang Y, Zhang C, Shu JB, Zhang F. Atypical infantile-onset Pompe disease with good prognosis from mainland China: A case report. World J Clin Cases 2022; 10(10): 3278-3283 |
URL |
https://www.wjgnet.com/2307-8960/full/v10/i10/3278.htm |
DOI |
https://dx.doi.org/10.12998/wjcc.v10.i10.3278 |
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