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1/20/2015 9:10:00 PM | Browse: 757 | Download: 736
Publication Name World Journal of Gastroenterology
Manuscript ID 12025
Country Mexico
Received
2014-06-18 08:29
Peer-Review Started
2014-06-18 16:22
To Make the First Decision
2014-07-21 14:06
Return for Revision
2014-07-28 16:22
Revised
2014-08-12 05:23
Second Decision
2014-09-30 10:03
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2014-09-30 10:30
Articles in Press
2014-09-30 10:56
Publication Fee Transferred
Edit the Manuscript by Language Editor
2014-10-21 08:50
Typeset the Manuscript
2015-01-10 19:24
Publish the Manuscript Online
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.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
Permissions For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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
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
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
Full Article (PDF) WJG-21-1001.pdf
Full Article (Word) WJG-21-1001.doc
Manuscript File 12025-Review.docx
Answering Reviewers 12025-Answering reviewers.pdf
Copyright License Agreement 12025-Copyright assignment.pdf
Institutional Review Board Approval Form or Document Ethics_Committee_20140618012905.pdf
Non-Native Speakers of English Editing Certificate 12025-Language certificate.pdf
Peer-review Report 12025-Peer review.pdf
Scientific Misconduct Check 12025-CorssCheck.jpg
Scientific Editor Work List 12025-Scientific editor work list.pdf