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
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
Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.
Demydchuk M et al.
Nature Communications, 2017
28593992 (PubMed )
Supplement: ncomms15786-s1.pdf
Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).
Li P et al.
Journal of Medical Genetics, 1999
Comparison of SSCP analysis and CFLP analysis for mutation detection in the human iduronate 2-sulfatase gene.
Maddox LO et al.
Biochemistry and Molecular Biology International, 1997
Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.
Olsen TC et al.
Human Genetics, 1996
Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome.
Li P et al.
Human Mutation, 1995
Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey.
Muenzer J et al.
Molecular Genetics and Metabolism, 0
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