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
39617925 (PubMed )
Supplement: 40246_2024_701_MOESM1_ESM.xlsx › TableS3_UniquePointVariants
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
27695081 (PubMed )
Supplement: pone.0163964.s001.xlsx › Sup_Data_1
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 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II.
Sohn YB et al.
Clinical Genetics, 2012
Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms.
Lualdi S et al.
Biochimica Et Biophysica Acta, 2006
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