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
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Splice-Modulating Antisense Oligonucleotides as Therapeutics for Inherited Metabolic Diseases.
Chen S et al.
Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy, 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
A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation.
Mashima R et al.
Scientific Reports, 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
Effect of Anti-Iduronate 2-Sulfatase Antibodies in Patients with Mucopolysaccharidosis Type II Treated with Enzyme Replacement Therapy.
Vollebregt AAM et al.
The Journal of Pediatrics, 2022
Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses Example.
Santos JI et al.
Life (basel, Switzerland), 2022
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
Epidemiology of Mucopolysaccharidoses Update.
Çelik B et al.
Diagnostics (basel, Switzerland), 2021
Effect of Mutated ids Overexpression on IDS Enzyme Activity and Developmental Phenotypes in Zebrafish Embryos: A Valuable Index for Assessing Critical Point-Mutations Associated with Mucopolysaccharidosis Type II Occurrence in Humans.
Lin CY et al.
Diagnostics (basel, Switzerland), 2020
Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update.
Burton BK et al.
International Journal of Neonatal Screening, 2020
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
Shutdown of ER-associated degradation pathway rescues functions of mutant iduronate 2-sulfatase linked to mucopolysaccharidosis type II.
Osaki Y et al.
Cell Death & Disease, 2018
Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.
Vollebregt AAM et al.
Developmental Medicine and Child Neurology, 2017
Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.
Demydchuk M et al.
Nature Communications, 2017
Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II.
Dvorakova L et al.
Clinical Genetics, 2017
Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.
Chiong MA et al.
Orphanet Journal of Rare Diseases, 2017
Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.
Saito S et al.
Plos One, 2016
Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.
Matos L et al.
Biochimica Et Biophysica Acta, 2015
Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.
Matos L et al.
Data in Brief, 2015
Cervical spine MRI findings in patients with Mucopolysaccharidosis type II.
Żuber Z et al.
Pediatric Neurosurgery, 2015
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
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.
Brusius-Facchin AC et al.
Molecular Genetics and Metabolism, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age.
Lampe C et al.
Jimd Reports, 2014
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
Pollard LM et al.
Journal of Inherited Metabolic Disease, 2013
Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome.
Keeratichamroen S et al.
Journal of Inherited Metabolic Disease, 2008
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
Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.
Sukegawa-Hayasaka K 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
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
Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome.
Ricci V et al.
American Journal of Medical Genetics. Part A, 2003
Uptake of recombinant iduronate-2-sulfatase into neuronal and glial cells in vitro.
Daniele A et al.
Biochimica Et Biophysica Acta, 2002
Mucopolysaccharidosis type II--genotype/phenotype aspects.
Froissart R et al.
Acta Paediatrica (oslo, Norway : 1992). Supplement, 2002
The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II.
Bonuccelli G et al.
Biochimica Et Biophysica Acta, 2001
Expression of five iduronate-2-sulfatase site-directed mutations.
Villani GR et al.
Biochimica Et Biophysica Acta, 2000
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
Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease).
Vafiadaki E et al.
Archives of Disease in Childhood, 1998
Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients.
Froissart R et al.
Clinical Genetics, 1998