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
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
Josahkian JA et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2021
Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants.
Zhang W et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
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
Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.
Cobos PN et al.
Jimd Reports, 2015
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