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
Allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis patients: a single-center experience and assessment of quality of life.
Zhang W et al.
Italian Journal of Pediatrics, 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
ProtVar: mapping and contextualizing human missense variation.
Stephenson JD et al.
Nucleic Acids Research, 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
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
The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients.
Chkioua L et al.
Bmc Medical Genetics, 2020
Endoplasmic Reticulum and Lysosomal Quality Control of Four Nonsense Mutants of Iduronate 2-Sulfatase Linked to Hunter's Syndrome.
Marazza A et al.
Dna and Cell Biology, 2020
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
A boy with mucopolysaccharidosis type II accompanied with a novel variation in heparan-N-sulfatase.
Li YJ et al.
Chinese Medical Journal, 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
Efficacy of Idursulfase therapy in patients with Mucopolysaccharidosis type II who initiated enzyme replacement therapy in adult age. A systematic review of the literature.
Pérez-López J et al.
Molecular Genetics and Metabolism, 2018
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
Immunogenicity of idursulfase and clinical outcomes in very young patients (16 months to 7.5 years) with mucopolysaccharidosis II (Hunter syndrome).
Pano A et al.
Orphanet Journal of Rare Diseases, 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
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
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
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
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
Molecular analysis in two siblings African patients with severe form of Hunter Syndrome: identification of a novel (p.Y54X) nonsense mutation.
Mutesa L et al.
Journal of Tropical Pediatrics, 2007
Mucopolysaccharidosis type II: an update on mutation spectrum.
Froissart R et al.
Acta Paediatrica (oslo, Norway : 1992), 2007
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
Mucopolysaccharidosis type II--genotype/phenotype aspects.
Froissart R et al.
Acta Paediatrica (oslo, Norway : 1992). Supplement, 2002
Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene.
Filocamo M et al.
Human Mutation, 2001
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 of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: characterisation of 6 novel mutations. Mutation in brief no. 249. Online.
Hartog C et al.
Human Mutation, 1999
Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients.
Karsten S et al.
Human Genetics, 1998
Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease).
Vafiadaki E et al.
Archives of Disease in Childhood, 1998
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