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3/29/2022 11:40:52 AM | Browse: 192 | Download: 389
Publication Name World Journal of Clinical Cases
Manuscript ID 73010
Country China
Received
2021-11-20 01:43
Peer-Review Started
2021-11-20 01:45
To Make the First Decision
Return for Revision
2022-01-11 10:25
Revised
2022-01-29 06:51
Second Decision
2022-02-17 05:48
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2022-02-20 12:46
Articles in Press
2022-02-20 12:46
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2022-03-22 12:16
Publish the Manuscript Online
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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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
Manuscript Source Unsolicited Manuscript
All Author List Ying Zhang, Cheng Zhang, Jian-Bo Shu and Fang Zhang
ORCID
Author(s) ORCID Number
Ying Zhang http://orcid.org/0000-0001-7921-1385
Cheng Zhang http://orcid.org/0000-0001-8876-7959
Jian-Bo Shu http://orcid.org/0000-0001-5735-9194
Fang Zhang http://orcid.org/0000-0002-5464-9265
Funding Agency and Grant Number
Funding Agency Grant Number
Tianjin Municipal Health Commission, China ZC20060
Corresponding Author Ying Zhang, MD, 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
Full Article (PDF) WJCC-10-3278.pdf
Full Article (Word) WJCC-10-3278.docx
CARE Checklist–2016 73010-CARE-Checklist–2016-revision.pdf
Manuscript File 73010_Auto_Edited.docx
Answering Reviewers 73010-Answering reviewers.pdf
Audio Core Tip 73010-Audio core tip.mp3
Conflict-of-Interest Disclosure Form 73010-Conflict-of-interest statement.pdf
Copyright License Agreement 73010-Copyright license agreement.pdf
Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s) 73010-Grant application form(s).pdf
Signed Consent for Treatment Form(s) or Document(s) 73010-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 73010-Language certificate.pdf
Peer-review Report 73010-Peer-review(s).pdf
Scientific Misconduct Check 73010-Bing-Gao CC-2.png
Scientific Editor Work List 73010-Scientific editor work list.pdf