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Article

Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey.

Molecular genetics and metabolism - 1 Jan 2000

Muenzer Joseph, Amartino Hernan, Burton Barbara K, Scarpa Maurizio, Tylki-Szymańska Anna, Audi Jennifer, Botha Jaco, Fertek Daniel, Merberg David, Natarajan Madhusudan, Whiteman David A H, Giugliani Roberto

Abstract excerpt

PURPOSE: This study investigated the relationship between mucopolysaccharidosis II (MPS II) iduronate-2-sulfatase gene (IDS) variants and phenotypic characteristics, particularly cognitive impairment, using data from the Hunter Outcome Survey (HOS) registry. METHODS: HOS data for male patients (n = 650) aged ≥5 years at latest cognitive assessment with available genetic data were analyzed. Predefined genotype...

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PMID: 39303318
DOI: 10.1016/j.ymgme.2024.108576

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