Associated Papers
Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya.
Mungai LNW et al.
Orphanet Journal of Rare Diseases, 2025
Genotype-Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study.
Yazıcı H et al.
Diagnostics (basel, Switzerland), 2025
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
Loss of Function of Mutant IDS Due to Endoplasmic Reticulum-Associated Degradation: New Therapeutic Opportunities for Mucopolysaccharidosis Type II.
Matsuhisa K et al.
International Journal of Molecular Sciences, 2021
Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II).
Semyachkina AN et al.
Bmc Medical Genomics, 2021
Endoplasmic Reticulum and Lysosomal Quality Control of Four Nonsense Mutants of Iduronate 2-Sulfatase Linked to Hunter's Syndrome.
Marazza A et al.
Dna and Cell Biology, 2020
Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial.
Okuyama T et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2019
Molecular analysis of the novel IDS allele in a Thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay.
Ngiwsara L et al.
Experimental and Therapeutic Medicine, 2017
Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II.
Dvorakova L et al.
Clinical Genetics, 2017
Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome.
Keeratichamroen S et al.
Journal of Inherited Metabolic Disease, 2008
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