Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey.
Joseph MuenzerHernan AmartinoBarbara K BurtonMaurizio ScarpaAnna Tylki-SzymańskaJennifer AudiJaco BothaDaniel FertekDavid MerbergMadhusudan NatarajanDavid A H WhitemanRoberto GiuglianiPublished in: Molecular genetics and metabolism (2024)
This analysis contributes toward the understanding of MPS II genotype-phenotype relationships, confirming and expanding on existing findings in a large, geographically diverse population.
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