Article
Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II.
Molecular genetics and metabolism - 1 Feb 2015
Yund Brianna, Rudser Kyle, Ahmed Alia, Kovac Victor, Nestrasil Igor, Raiman Julian, Mamak Eva, Harmatz Paul, Steiner Robert, Lau Heather, Vekaria Pooja, Wozniak Jeffrey R, Lim Kelvin O, Delaney Kathleen, Whitley Chester, Shapiro Elsa G
Abstract excerpt
UNLABELLED: The phenotype of attenuated mucopolysaccharidosis type II (MPS II), also called Hunter syndrome, has not been previously studied in systematic manner. In contrast to the "severe" phenotype, the "attenuated" phenotype does not present with behavioral or cognitive impairment; however, the presence of mild behavior and cognitive impairment that might impact long-term functional outcomes is unknown....
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