Associated Papers
Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya.
Mungai LNW et al.
Orphanet Journal of Rare Diseases, 2025
Expanding the ethnic and clinical spectrum of the IDS c.1122C>T mutation: first report from Pakistan.
Fatima S et al.
Neurogenetics, 2025
Long-Read Sequencing Expands the Genotypic Spectrum of Patients With Mucopolysaccharidosis Type II.
Hao N et al.
Journal of Inherited Metabolic Disease, 2025
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.
Cheerie D et al.
American Journal of Human Genetics, 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 diagnosis and management of mucopolysaccharidosis type II.
Mao SJ et al.
Italian Journal of Pediatrics, 2024
Mature neurons from iPSCs unveil neurodegeneration-related pathways in mucopolysaccharidosis type II: GSK-3β inhibition for therapeutic potential.
Chen TY et al.
Cell Death & Disease, 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
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
Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.
Chuang CK et al.
International Journal of Molecular Sciences, 2022
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
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 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
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
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
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
Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.
Uttarilli A et al.
Clinical Genetics, 2016
Hunter Syndrome in Northern India: Clinical features and Mutation Spectrum.
Narayanan DL et al.
Indian Pediatrics, 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
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.
Brusius-Facchin AC et al.
Molecular Genetics and Metabolism, 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
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome).
Amartino H et al.
Molecular Genetics and Metabolism Reports, 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
Mucopolysaccharidosis type II: an update on mutation spectrum.
Froissart R et al.
Acta Paediatrica (oslo, Norway : 1992), 2007
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
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
Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey.
Muenzer J et al.
Molecular Genetics and Metabolism, 0