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Articles Published Processes
1/8/2021 9:54:09 AM | Browse: 454 | Download: 1115
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Received |
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2020-08-25 16:10 |
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Peer-Review Started |
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2020-08-25 16:10 |
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To Make the First Decision |
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Return for Revision |
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2020-10-27 05:20 |
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Revised |
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2020-11-07 14:03 |
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Second Decision |
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2020-11-16 11:27 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2020-11-21 06:15 |
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Articles in Press |
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2020-11-21 06:15 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2020-12-03 22:38 |
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Typeset the Manuscript |
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2021-01-06 02:02 |
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Publish the Manuscript Online |
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2021-01-08 09:54 |
| 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) 2021. 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 |
Neonatal isovaleric acidemia in China: A case report and review of literature
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Fang Wu, Shu-Juan Fan and Xi-Hui Zhou |
| ORCID |
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| Funding Agency and Grant Number |
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| Corresponding Author |
Xi-Hui Zhou, MD, Chief Physician, Full Professor, Department of Neonatalogy, The First Affiliated Hospital of Xi'an Jiaotong University, No. 277 Yanta West Road, Xi'an 710061, Shaanxi Province, China. zhouxihuixian@163.com |
| Key Words |
Isovaleric acidemia; Isovaleryl-CoA dehydrogenase; Sweaty feet odor; Case report; Mental retardation; Literature review |
| Core Tip |
Isovaleric acidemia (IVA) is a rare autosomal recessive inherited organic acidemia caused by a genetic deficiency of isovaleryl-CoA dehydrogenase (IVD), with a high mortality. We describe a 12-day-old male neonate diagnosed with IVD by tandem mass spectrometry and gas chromatography mass spectrometry. Organic acid analysis of blood and urine showed extremely high concentrations of isovaleryl glycine. DNA sequencing of the IVD gene in the family revealed c.1193G>A mutation inherited from his mother and c.1208A>G mutation inherited from his father. Furthermore, the clinical characteristics and prognosis are discussed in combination with reported cases over the past 14 years. |
| Publish Date |
2021-01-08 09:54 |
| Citation |
Wu F, Fan SJ, Zhou XH. Neonatal isovaleric acidemia in China: A case report and review of literature. World J Clin Cases 2021; 9(2): 436-444 |
| URL |
https://www.wjgnet.com/2307-8960/full/v9/i2/436.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v9.i2.436 |
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