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Articles in Press
4/9/2025 7:59:25 AM | Browse: 52 | Download: 0
Category |
Pediatrics |
Manuscript Type |
Retrospective Cohort Study |
Article Title |
Analysis of fatal outcomes of patients with mucopolysaccharidosis type II according to the Russian mucopolysaccharidosis registry
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Manuscript Source |
Invited Manuscript |
All Author List |
Natalia Buchinskaya, Anastasia Vechkasova, Nato Vashakmadze, Leyla Namazova-Baranova, Dmitry Ivanov, Ekaterina Zakharova, Sergei Kutsev and Mikhail Kostik |
Funding Agency and Grant Number |
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Corresponding Author |
Mikhail Kostik, MD, PhD, Professor, Hospital Pediatry, Saint-Petersburg State Pediatric Medical University, Lytovskaya 2, Saint-Petersburg 194100, Sankt-Peterburg, Russia. kost-mikhail@yandex.ru |
Key Words |
Mucopolysaccharidosis type II; IDS gene; Genotype-phenotype; Long-term outcomes; Russian Federation |
Core Tip |
Mucopolysaccharidosis type II is a rare lysosomal storage disease characterized by the progression of multiorgan dysfunction and increased mortality rates. The assessment of the death outcomes might improve the survival of these patients. High birth weight, delayed diagnosis, delayed enzyme replacement treatment, any signs of central nervous system involvement, and progressive impossibility of independent walking were the main predictors of the fatal outcome. |
Citation |
Buchinskaya N, Vechkasova A, Vashakmadze N, Namazova-Baranova L, Ivanov D, Zakharova E, Kutsev S, Kostik M. Analysis of fatal outcomes of patients with mucopolysaccharidosis type II according to the Russian mucopolysaccharidosis registry. World J Clin Pediatr 2025; In press |
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Received |
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2024-12-31 04:13 |
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Peer-Review Started |
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2024-12-31 04:13 |
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To Make the First Decision |
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Return for Revision |
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2025-03-19 02:54 |
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Revised |
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2025-04-01 16:31 |
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Second Decision |
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2025-04-09 02:40 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2025-04-09 07:59 |
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Articles in Press |
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2025-04-09 07:59 |
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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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ISSN |
2219-2808 (online) |
Open Access |
This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (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) 2025. Published by Baishideng Publishing Group Inc. All rights reserved. |
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 |
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