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5/11/2019 3:14:23 PM | Browse: 174 | Download: 87
Publication Name World Journal of Clinical Cases
Manuscript ID 43481
Country/Territory Montenegro
Category Endocrinology and Metabolism
Manuscript Type Case Report
Article Title Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report
Manuscript Source Unsolicited Manuscript
All Author List Snezana Vujosevic, Sanja Medenica, Vesko Vujicic, Milena Dapcevic, Nikola Bakic, Ruhua Yang, Jun Liu and Pramod K Mistry
Funding Agency and Grant Number
Corresponding author Sanja Medenica, MD, MSc, Doctor, Department of Endocrinology, Internal Medicine Clinic, Clinical Center of Montenegro, Ljubljanska bb, Podgorica 81000, Montenegro. medenicasanja@gmail.com
Keywords Gaucher disease; Lysosomal storage disorder; Glucocerebrosidase; GBA gene sequencing; Genotype; Case report
Core Tip This is the first report on Gaucher disease (GD) originating from Montenegro that presents clinical phenotypes of GD and glucocerebrosidase (GBA) gene mutations in patients in Montenegro that are diagnosed with GD and genotype/phenotype correlations. While GBA gene sequencing revealed a homozygosity for the N370S mutation in 1 patient, the genotypes of the other patients were N370S/55bp deletion, N370S/D409H (in 2 patients), and H255Q/N370S (1 patient). The phenotypes of the GD type 1 encountered were severe but all responded well to enzyme replacement therapy. Genetic testing for their progeny was also planned.
Citation Vujosevic S, Medenica S, Vujicic V, Dapcevic M, Bakic N, Yang R, Liu J, Mistry PK. Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report. World J Clin Cases 2019; 7(12): 1475-1482
2018-11-21 01:14
Peer-Review Started
2018-11-21 08:26
To Make the First Decision
2019-03-14 00:16
Return for Revision
2019-03-19 02:37
2019-05-01 08:44
Second Decision
2019-05-10 09:21
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2019-05-11 15:14
Articles in Press
2019-05-11 15:14
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2019-06-24 06:22
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.
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
Assistant Editor Xiang Li
Science Editor Ying Dou
Reviewer Code 02741591, 03087211, 03478635, 03740596, and 01021318
Editorial Director Jin-Lei Wang
Journal Chief Editor
Company Chief Editor Lian-Sheng Ma
Language Editor
Electronic Editor Jie Wang
Responsible Electronic Editor Jie Wang
Responsible Science Editor Jin-Lei Wang
Proofing Editorial Director Jin-Lei Wang
Proofing Editor-in-Chief Lian-Sheng Ma
Full Article (PDF) WJCC-7-1475.pdf
Full Article (Word) WJCC-7-1475.docx
Manuscript File 43481-Review.docx
Answering Reviewers 43481-Answering reviewers.pdf
Audio Core Tip 43481-Audio core tip.mp3
Conflict-of-Interest Disclosure Form 43481-Conflict-of-interest statement.pdf
Copyright License Agreement 43481-Copyright license agreement.pdf
Signed Informed Consent Form(s) or Document(s) 43481-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 43481-Language certificate.pdf
Peer-review Report 43481-Peer-review(s).pdf
Scientific Misconduct Check 43481-Scientific misconduct check.pdf
Scientific Editor Work List 43481-Scientific editor work list.pdf