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
Retinitis pigmentosa and nanophthalmos in a patient with attenuated Hunter's syndrome.
Dos Santos Martins TG et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2023
Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II.
Stephan BO et al.
Clinics (sao Paulo, Brazil), 2022
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
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
NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene.
Torres LC et al.
Clinical Immunology (orlando, Fla.), 2014
Whole-exome sequencing expands the phenotype of Hunter syndrome.
Nikkel SM et al.
Clinical Genetics, 2014
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.
Brusius-Facchin AC et al.
Molecular Genetics and Metabolism, 2014
Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II).
Quaio CR et al.
Jimd Reports, 2012
The first cardiac transplant experience in a patient with mucopolysaccharidosis.
Grinberg H et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0
Multimodal image analysis of the retina in Hunter syndrome (mucopolysaccharidosis type II): Case report.
Salvucci IDM et al.
Ophthalmic Genetics, 0
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