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1/26/2019 8:24:20 AM | Browse: 690 | Download: 547
Publication Name World Journal of Clinical Cases
Manuscript ID 42063
Country Jordan
Received
2018-09-16 05:11
Peer-Review Started
2018-09-18 03:39
To Make the First Decision
2018-10-26 00:13
Return for Revision
2018-10-29 01:03
Revised
2018-11-26 13:36
Second Decision
2018-12-14 08:35
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2018-12-15 01:26
Articles in Press
2018-12-15 01:26
Publication Fee Transferred
Edit the Manuscript by Language Editor
2018-12-20 12:49
Typeset the Manuscript
2019-01-25 09:20
Publish the Manuscript Online
2019-01-26 08:24
ISSN 2307-8960 (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) 2019. 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 Medicine, Research & Experimental
Manuscript Type Case Report
Article Title Variant late infantile ceroid lipofuscinosis in Jordan: A case report
Manuscript Source Unsolicited Manuscript
All Author List Omar Nafi, Bashar Ramadan, Olaf Riess, Rebecca Buchert and Tawfiq Froukh
ORCID
Author(s) ORCID Number
Omar Nafi http://orcid.org/0000-0002-1342-6567
Bashar Ramadan http://orcid.org/0000-0003-2102-0900
Olaf Riess http://orcid.org/0000-0002-7011-1369
Rebecca Buchert http://orcid.org/0000-0001-7576-3326
Tawfiq Froukh http://orcid.org/0000-0002-2862-0733
Funding Agency and Grant Number
Corresponding Author Omar Nafi, MD, Associate Professor, Department of Pediatrics, Faculty of Medicine, Al Karak 61710, Jordan. omarnafi@mutah.edu.jo
Key Words Ceroid lipofuscinosis; Childhood disintegrative disorder; Lysosomal storage disorders; Neurodegenerative disorders; Variant late infantile; Case report
Core Tip Neuronal ceroid lipofuscinoses are a collection of neurodegenerative lysosomal storage disorders that are typically inherited in an autosomal recessive manner. In this case, we present the first incidence of this disorder in Jordan. It appears to have affected two siblings who experienced a slightly different clinical course from that which has typically been reported. This report also highlights the importance of whole exome sequencing for the identification of genetic causes of disease.
Publish Date 2019-01-26 08:24
Citation Nafi O, Ramadan B, Riess O, Buchert R, Froukh T. Variant late infantile ceroid lipofuscinosis in Jordan: A case report. World J Clin Cases 2019; 7(2): 203-208
URL https://www.wjgnet.com/2307-8960/full/v7/i2/203.htm
DOI https://dx.doi.org/10.12998/wjcc.v7.i2.203
Full Article (PDF) WJCC-7-203.pdf
Full Article (Word) WJCC-7-203.docx
CARE Checklist–2016 42063-CARE Checklist (2016).pdf
Manuscript File 42063-Review.docx
Answering Reviewers 42063-Answering reviewers.pdf
Audio Core Tip 42063-Audio core tip.m4a
Conflict-of-Interest Disclosure Form 42063-Conflict-of-interest statement.pdf
Copyright License Agreement 42063-Copyright license agreement.pdf
Signed Informed Consent Form(s) or Document(s) 42063-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 42063-Language certificate.pdf
Peer-review Report 42063-Peer-review(s).pdf
Scientific Misconduct Check 42063-Scientific misconduct check.pdf
Scientific Editor Work List 42063-Scientific editor work list.pdf