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
Effect of Anti-Iduronate 2-Sulfatase Antibodies in Patients with Mucopolysaccharidosis Type II Treated with Enzyme Replacement Therapy.
Vollebregt AAM et al.
The Journal of Pediatrics, 2022
Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.
Vollebregt AAM et al.
Developmental Medicine and Child Neurology, 2017
Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.
Demydchuk M et al.
Nature Communications, 2017
28593992 (PubMed )
Supplement: ncomms15786-s1.pdf
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.
Brusius-Facchin AC et al.
Molecular Genetics and Metabolism, 2014
Mutation analysis in 20 patients with Hunter disease.
Goldenfum SL et al.
Human Mutation, 1996
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