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
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
Targeting Neurological Aspects of Mucopolysaccharidosis Type II: Enzyme Replacement Therapy and Beyond.
Zanetti A et al.
Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 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
Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.
Chuang CK et al.
International Journal of Molecular Sciences, 2022
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
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
Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients.
Yu C et al.
Frontiers in Endocrinology, 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
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Biochemical, machine learning and molecular approaches for the differential diagnosis of Mucopolysaccharidoses.
Kadali S et al.
Molecular and Cellular Biochemistry, 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
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 and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II.
Alkhzouz C et al.
Jimd Reports, 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
Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.
Saito S et al.
Plos One, 2016
Hunter syndrome with late age of presentation: clinical description of a case and review of the literature.
Gupta A et al.
Bmj Case Reports, 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
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
Osteoarthropathy in mucopolysaccharidosis type II.
Nascu I et al.
Clujul Medical (1957), 2013
Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II.
Sohn YB et al.
Clinical Genetics, 2012
Hunter disease before and during enzyme replacement therapy.
Hoffmann B et al.
Pediatric Neurology, 2011
Mucopolysaccharidosis type II: an update on mutation spectrum.
Froissart R et al.
Acta Paediatrica (oslo, Norway : 1992), 2007
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
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
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
Hunter disease in the Spanish population: molecular analysis in 31 families.
Gort L et al.
Journal of Inherited Metabolic Disease, 1998
Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients.
Froissart R et al.
Clinical Genetics, 1998
Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).
Isogai K et al.
Journal of Inherited Metabolic Disease, 1998
Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter disease.
Gort L et al.
Human Mutation, 1998
[The degradation of mutant proteins by ERAD and the pathogenesis of diseases.]
Osaki Y et al.
Clinical Calcium, 0
Newborn screening for mucopolysaccharidosis type II: Lessons learned.
Burton BK et al.
Molecular Genetics and Metabolism, 0
Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey.
Muenzer J et al.
Molecular Genetics and Metabolism, 0