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Articles Published Processes
1/15/2022 12:57:35 PM | Browse: 221 | Download: 348
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Received |
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2021-06-22 08:57 |
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Peer-Review Started |
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2021-06-22 08:59 |
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To Make the First Decision |
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Return for Revision |
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2021-07-26 07:46 |
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Revised |
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2021-08-09 15:54 |
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Second Decision |
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2021-12-17 03:24 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Company Editor-in-Chief |
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2021-12-23 04:29 |
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Articles in Press |
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2021-12-23 04:29 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2021-12-05 03:02 |
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Typeset the Manuscript |
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2022-01-12 05:51 |
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Publish the Manuscript Online |
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2022-01-15 12:57 |
| 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 |
Cardiac & Cardiovascular Systems |
| Manuscript Type |
Case Report |
| Article Title |
Novel α-galactosidase A gene mutation in a Chinese Fabry disease family: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
An-Yi Fu, Qi-Zhi Jin and Ya-Xun Sun |
| ORCID |
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| Funding Agency and Grant Number |
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| Corresponding Author |
Ya-Xun Sun, MD, Doctor, Department of Cardiology, Sir Run Run Shaw Hospital, Clinical Medicine of Zhejiang University, No. 3 Qingchun East Road, Shangcheng District, Hangzhou 310016, Zhejiang Province, China. sunyaxun@zju.edu.cn |
| Key Words |
Lysosomal storage disease; Enzyme activity; Fabry disease; Frameshift deletion; Whole exon sequencing; Case report |
| Core Tip |
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A. We present herein a case of novel mutation (348delG:p.G116fs) in exon 2 in a Chinese FD family. Time delay in the diagnosis was 6 years. The proband died of respiratory circulatory failure. The son of the proband had a low level of enzyme activity, early-onset, and severe organ involvement. He was prescribed agalsidase-β for enzyme replacement therapy to delay progression of the disease. This case highlights that clinical phenotype, gene detection, and enzyme activity results should be analyzed comprehensively for patients suspected of having FD. |
| Publish Date |
2022-01-15 12:57 |
| Citation |
Fu AY, Jin QZ, Sun YX. Novel α-galactosidase A gene mutation in a Chinese Fabry disease family: A case report. World J Clin Cases 2022; 10(3): 1067-1076 |
| URL |
https://www.wjgnet.com/2307-8960/full/v10/i3/1067.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v10.i3.1067 |
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