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
Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient.
Lau KC et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients.
Froissart R et al.
Clinical Genetics, 1998
First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: case observations from the Hunter Outcome Survey (HOS).
Alcalde-Martín C et al.
European Journal of Medical Genetics, 0
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