Article
Cognitive and adaptive behaviors associated with disease severity and genotype in patients with mucopolysaccharidosis II.
Molecular genetics and metabolism - 1 Nov 2023
Yee Karen S, Alexanderian David, Merberg David, Natarajan Madhusudan, Wang Scarlett, Wu Yuna, Whiteman David A H
Abstract excerpt
BACKGROUND: Mucopolysaccharidosis II (MPS II) is a rare, X-linked lysosomal storage disease caused by pathogenic variants of the iduronate-2-sulfatase gene (IDS) and is characterized by a highly variable disease spectrum. MPS II severity is difficult to predict based on IDS variants alone; while some genotypes are associated with specific phenotypes, the disease course of most genotypes remains unknown. This...
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