Associated Papers
Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation.
Buchinskaia NV et al.
Turkish Archives of Pediatrics, 2025
39803987 (PubMed )
Supplement: supplementary_material.pdf
Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.
Zanetti A et al.
Human Genomics, 2024
Phenotypic and genetic characteristics of 130 patients with mucopolysaccharidosis type II: A single-center retrospective study in China.
Zhang Z et al.
Frontiers in Genetics, 2023
Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II).
Semyachkina AN et al.
Bmc Medical Genomics, 2021
Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome.
Alcántara-Ortigoza MA et al.
Clinical Genetics, 2016
Genetic analysis of 17 children with Hunter syndrome: identification and functional characterization of four novel mutations in the iduronate-2-sulfatase gene.
Chistiakov DA et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2014
Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome).
Cho SY et al.
Journal of Korean Medical Science, 2014
Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II.
Sohn YB et al.
Clinical Genetics, 2012
Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing.
Zhang H et al.
Plos One, 2011
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