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Articles Published Processes
3/29/2022 11:40:52 AM | Browse: 414 | Download: 1388
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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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First Decision by Editorial Office Director |
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2022-01-11 10:25 |
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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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Publication Fee Transferred |
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Second Decision by Editor |
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2022-02-17 05:48 |
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Second Decision by Editor-in-Chief |
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Final Decision by Editorial Office Director |
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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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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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