Associated Papers
Genotype-Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study.
Yazıcı H et al.
Diagnostics (basel, Switzerland), 2025
Long-Read Sequencing Expands the Genotypic Spectrum of Patients With Mucopolysaccharidosis Type II.
Hao N et al.
Journal of Inherited Metabolic Disease, 2025
Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation.
Buchinskaia NV et al.
Turkish Archives of Pediatrics, 2025
Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.
Zanetti A et al.
Human Genomics, 2024
Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study.
Zhong L et al.
Clinical Genetics, 2023
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
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
Josahkian JA et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2021
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
Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II).
Lin HY et al.
International Journal of Molecular Sciences, 2019
Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants.
Zhang W et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.
Demydchuk M et al.
Nature Communications, 2017
Molecular analysis of the novel IDS allele in a Thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay.
Ngiwsara L et al.
Experimental and Therapeutic Medicine, 2017
Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II.
Dvorakova L et al.
Clinical Genetics, 2017
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
Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.
Saito S et al.
Plos One, 2016
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.
Brusius-Facchin AC et al.
Molecular Genetics and Metabolism, 2014
Decreasing activity and altered protein processing of human iduronate-2-sulfatase mutations demonstrated by expression in COS7 cells.
Charoenwattanasatien R et al.
Biochemical Genetics, 2012
Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations.
Alves S et al.
Journal of Inherited Metabolic Disease, 2006
Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations.
Tomatsu S et al.
European Journal of Human Genetics : Ejhg, 2006
Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship.
Sardiello M et al.
Human Molecular Genetics, 2005
Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II).
Chang JH et al.
Human Genetics, 2005
Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II.
Kato T et al.
Journal of Human Genetics, 2005
General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus.
Tomatsu S et al.
Human Mutation, 2004
Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients.
Parkinson EJ et al.
Molecular Genetics and Metabolism, 2004
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
Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients.
Karsten S et al.
Human Genetics, 1998
Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online.
Balzano N et al.
Human Mutation, 1998
Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28.
Rathmann M et al.
Human Genetics, 1995
Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey.
Muenzer J et al.
Molecular Genetics and Metabolism, 0