Associated Papers
Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.
Zanetti A et al.
Human Genomics, 2024
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
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
Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.
Saito S et al.
Plos One, 2016
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
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
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
Mucopolysaccharidosis type II in females: case report and review of literature.
Tuschl K et al.
Pediatric Neurology, 2005
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
Mucopolysaccharidosis type II--genotype/phenotype aspects.
Froissart R et al.
Acta Paediatrica (oslo, Norway : 1992). Supplement, 2002
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
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
Brother/sister siblings affected with Hunter disease: evidence for skewed X chromosome inactivation.
Sukegawa K et al.
Clinical Genetics, 1998
Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients.
Villani GR et al.
Human Mutation, 1997
Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele.
Sukegawa K et al.
Human Mutation, 1997
Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.
Sukegawa K et al.
Human Mutation, 1995
[Mucopolysaccharidosis II (Hunter syndrome): identification of the carrier state of the disease by means of mutation analysis].
Balzano N et al.
La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics, 0