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Articles Published Processes
2/14/2023 7:03:16 AM | Browse: 165 | Download: 481
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Received |
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2022-09-20 07:00 |
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Peer-Review Started |
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2022-09-20 07:04 |
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To Make the First Decision |
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Return for Revision |
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2022-11-30 07:33 |
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Revised |
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2022-12-12 12:32 |
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Second Decision |
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2023-01-18 03:05 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2023-01-19 02:44 |
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Articles in Press |
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2023-01-19 02:44 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2023-01-12 05:42 |
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Typeset the Manuscript |
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2023-02-03 06:47 |
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Publish the Manuscript Online |
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2023-02-14 07:03 |
| 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: http://creativecommons.org/licenses/by-nc/4.0/ |
| Copyright |
©The Author(s) 2023. 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 |
Genetics & Heredity |
| Manuscript Type |
Case Report |
| Article Title |
Diagnosis of an intermediate case of maple syrup urine disease: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Yun-Ting Lin, Yan-Na Cai, Tzer Hwu Ting, Li Liu, Chun-Hua Zeng, Ling Su, Min-Zhi Peng and Xiu-Zhen Li |
| ORCID |
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| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Guangzhou Science Technology and Innovation Commission |
202102020133 |
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| Corresponding Author |
Xiu-Zhen Li, MM, Chief Physician, Department of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, No. 9 Jinsui Road, Guangzhou 510623, Guangdong Province, China. 13725100840@163.com |
| Key Words |
Maple syrup urine disease; BCKDHB gene; Branched-chain amino acids; Metabolic profiling; Genetic analysis; Case report |
| Core Tip |
Clinical and metabolic screening is limited in identifying all patients with maple syrup urine disease (MSUD), especially those patients with mild phenotypes or are asymptomatic. Here we present the diagnostic process of an intermediate MSUD case with a mild phenotype, who was missed by metabolic profiling but identified by genetic analysis. This case suggests that genetic testing could contribute to the identification of non-classic mild MSUD cases and alerts clinicians to avoid missing these patients. |
| Publish Date |
2023-02-14 07:03 |
| Citation |
Lin YT, Cai YN, Ting TH, Liu L, Zeng CH, Su L, Peng MZ, Li XZ. Diagnosis of an intermediate case of maple syrup urine disease: A case report. World J Clin Cases 2023; 11(5): 1077-1085 |
| URL |
https://www.wjgnet.com/2307-8960/full/v11/i5/1077.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v11.i5.1077 |
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