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Articles Published Processes
1/20/2015 9:10:00 PM | Browse: 842 | Download: 1021
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Received |
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2014-06-18 08:29 |
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Peer-Review Started |
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2014-06-18 16:22 |
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To Make the First Decision |
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2014-07-21 14:06 |
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Return for Revision |
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2014-07-28 16:22 |
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Revised |
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2014-08-12 05:23 |
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Second Decision |
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2014-09-30 10:03 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2014-09-30 10:30 |
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Articles in Press |
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2014-09-30 10:56 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2014-10-21 08:50 |
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Typeset the Manuscript |
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2015-01-10 19:24 |
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Publish the Manuscript Online |
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2015-01-20 20:12 |
ISSN |
1007-9327 (print) and 2219-2840 (online) |
Open Access |
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
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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 |
Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency
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Manuscript Source |
Unsolicited Manuscript |
All Author List |
Yuritzi Santillán-Hernández, Enory Almanza-Miranda, Winnie W Xin, Kendrick Goss, Aurea Vera-Loaiza, María Teresa Gorráez-de la Mora and Raul E Piña-Aguilar |
Funding Agency and Grant Number |
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Corresponding Author |
Raul E Piña-Aguilar, MD, Medical Genomics Division, Centro Médico Nacional “20 de Noviembre”, ISSSTE, San Lorenzo #502D, Col. del Valle, Del. Benito Juarez, México City 03100, México. rpina.a@hotmail.comar |
Key Words |
Cholesteryl ester storage disease; Dyslipidemia; Liver fibrosis; Liver steatosis; Wolman disease |
Core Tip |
Lysosomal acid lipase-deficiency is a rare genetic disorder related to the metabolism of cholesterol and triglycerides inside the lysosome. In this report, we present the findings from two siblings with no lysosomal acid lipase activity caused by two previously unidentified mutations in exon 4 of LIPA. The patients had early hepatic presentation, including severe cirrhosis and esophageal varices in the elder sibling, underscoring the significant morbidity that can occur at all ages of lysosomal acid lipase-deficiency and highlighting possible compensatory mechanisms in liver function in children. |
Publish Date |
2015-01-20 20:12 |
Citation |
Santillán-Hernández Y, Almanza-Miranda E, Xin WW, Goss K, Vera-Loaiza A, Gorráez-de la Mora MT, Piña-Aguilar RE. Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency. World J Gastroenterol 2015; 21(3): 1001-1008 |
URL |
http://www.wjgnet.com/1007-9327/full/v21/i3/1001.htm |
DOI |
http://dx.doi.org/10.3748/wjg.v21.i3.1001 |
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