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Publication Name World Journal of Clinical Pediatrics
Manuscript ID 104689
Country Russia
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
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
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
Received
2024-12-31 04:13
Peer-Review Started
2024-12-31 04:13
To Make the First Decision
Return for Revision
2025-03-19 02:54
Revised
2025-04-01 16:31
Second Decision
2025-04-09 02:40
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief
2025-04-09 07:59
Articles in Press
2025-04-09 07:59
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
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/
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