Publication Name	World Journal of Clinical Pediatrics
Manuscript ID	110003
Country	Russia

Category	Pediatrics
Manuscript Type	Retrospective Cohort Study
Article Title	Clinical and genetic characteristics of mucopolysaccharidosis type VI according to the Russian registry
Manuscript Source	Invited Manuscript
All Author List	Anastasia O Vechkasova, Ekaterina Yu Zakharova, Natalia V Buchinskaya, Nato D Vashakmadze, Leyla S Namazova-Baranova, Dmitry O Ivanov, Sergei I Kutsev and Mikhail M Kostik
Funding Agency and Grant Number
Corresponding Author	Mikhail M Kostik, 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 VI; ARSB; Enzyme replacement therapy; Genotype-phenotype correlation; Register; Russian Federation
Core Tip	The prevalence of mucopolysaccharidosis type VI (MPS VI) in Russia is close to that in the United States and Japan. The main clinical symptoms included the Hurler phenotype, heart involvement, delayed linear growth, otolaryngological symptoms, a short neck, hepatomegaly, and inguinal hernias. All patients exhibited orthopedic manifestations, including chest deformity, spine stiffness, and joint stiffness. The pathogenic variant c.454C>T in the ARSB gene is the most common in patients with MPS VI in Russia, followed by pathogenic variant c.194C>T (p.Ser65Phe). There was no correlation between the onset age of the first symptoms, the severity of clinical manifestations and enzyme activity, and nucleotide variants in the ARSB gene.
Citation	Vechkasova AO, Zakharova EY, Buchinskaya NV, Vashakmadze ND, Namazova-Baranova LS, Ivanov DO, Kutsev SI, Kostik MM. Clinical and genetic characteristics of mucopolysaccharidosis type VI according to the Russian registry. World J Clin Pediatr 2025; In press

Received	2025-05-29 03:35
Peer-Review Started	2025-05-29 03:35
To Make the First Decision
Return for Revision	2025-06-07 01:40
Revised	2025-06-15 06:18
Second Decision	2025-09-04 02:51
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief	2025-09-04 05:24
Articles in Press	2025-09-04 05:24
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ISSN	2219-2808 (online)
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