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Articles Published Processes
6/26/2019 6:21:57 AM | Browse: 843 | Download: 1293
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Received |
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2018-11-21 01:14 |
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Peer-Review Started |
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2018-11-21 08:26 |
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To Make the First Decision |
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2019-03-14 00:16 |
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Return for Revision |
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2019-03-19 02:37 |
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Revised |
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2019-05-01 08:44 |
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Second Decision |
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2019-05-10 09:21 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2019-05-11 15:14 |
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Articles in Press |
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2019-05-11 15:14 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2019-06-24 06:22 |
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Publish the Manuscript Online |
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2019-06-26 06:21 |
| 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
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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 |
Endocrinology & Metabolism |
| Manuscript Type |
Case Report |
| Article Title |
Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report
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| 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 |
| ORCID |
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| Funding Agency and Grant Number |
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| Corresponding Author |
Sanja Medenica, MD, MSc, Doctor, Doctor, Department of Endocrinology, Internal Medicine Clinic, Clinical Center of Montenegro, Ljubljanska bb, Podgorica 81000, Montenegro. medenicasanja@gmail.com |
| Key Words |
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. |
| Publish Date |
2019-06-26 06:21 |
| 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 |
| URL |
https://www.wjgnet.com/2307-8960/full/v7/i12/1475.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v7.i12.1475 |
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