Associated Papers
Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey.
Burton BK et al.
Jimd Reports, 2026
Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.
Zanetti A et al.
Human Genomics, 2024
39617925 (PubMed )
Supplement: 40246_2024_701_MOESM1_ESM.xlsx › TableS2_FemalePatients
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
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
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.
Demydchuk M et al.
Nature Communications, 2017
28593992 (PubMed )
Supplement: ncomms15786-s1.pdf
Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.
Saito S et al.
Plos One, 2016
The effect of recombinant human iduronate-2-sulfatase (Idursulfase) on growth in young patients with mucopolysaccharidosis type II.
Żuber Z et al.
Plos One, 2014
Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age.
Lampe C et al.
Jimd 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
Effects of idursulfase enzyme replacement therapy for Mucopolysaccharidosis type II when started in early infancy: comparison in two siblings.
Tajima G et al.
Molecular Genetics and Metabolism, 2013
Mucopolysaccharidosis type II in females and response to enzyme replacement therapy.
Jurecka A et al.
American Journal of Medical Genetics. Part A, 2012
Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: a 3-year follow-up.
Tylki-Szymanska A et al.
Acta Paediatrica (oslo, Norway : 1992), 2012
Female Hunter syndrome caused by a single mutation and familial XCI skewing: implications for other X-linked disorders.
Kloska A et al.
Clinical Genetics, 2011
Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.
Jonsson JJ et al.
American Journal of Human Genetics, 1995
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