Associated Papers
Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey.
Burton BK et al.
Jimd Reports, 2026
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
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
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
Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells.
Murgasova L et al.
Virchows Archiv : an International Journal of Pathology, 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
Loss of Function of Mutant IDS Due to Endoplasmic Reticulum-Associated Degradation: New Therapeutic Opportunities for Mucopolysaccharidosis Type II.
Matsuhisa K et al.
International Journal of Molecular Sciences, 2021
Production of therapeutic iduronate-2-sulfatase enzyme with a novel single-stranded RNA virus vector.
Ohira M et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2021
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
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 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
Role of induced pluripotent stem cells in lysosomal storage diseases.
Kido J et al.
Molecular and Cellular Neurosciences, 2020
Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update.
Burton BK et al.
International Journal of Neonatal Screening, 2020
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
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
Zanetti A et al.
European Journal of Pediatrics, 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
Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial.
Okuyama T et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 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
Epidemiology of mucopolysaccharidoses.
Khan SA et al.
Molecular Genetics and Metabolism, 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
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
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
X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female.
Řeboun M et al.
Folia Biologica, 2016
Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.
Saito S et al.
Plos One, 2016
Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.
Cobos PN et al.
Jimd Reports, 2015
Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome.
Galvis J et al.
Jimd Reports, 2015
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.
Brusius-Facchin AC et al.
Molecular Genetics and Metabolism, 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
Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.
Piña-Aguilar RE et al.
European Journal of Medical Genetics, 2013
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
Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II.
Sohn YB et al.
Clinical Genetics, 2012
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.
Scarpa M et al.
Orphanet Journal of Rare Diseases, 2011
Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy.
Viana GM et al.
Genetics and Molecular Biology, 2011
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
A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis.
Sohn YB et al.
American Journal of Medical Genetics. Part A, 2010
Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.
Pinto LL et al.
Orphanet Journal of Rare Diseases, 2010
Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome.
Keeratichamroen S et al.
Journal of Inherited Metabolic Disease, 2008