Cognitive, Medical, and Neuroimaging Characteristics of Attenuated Mucopolysaccharidosis Type II

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 m...

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Bibliografiske detaljer
Udgivet i:Mol Genet Metab
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: 2014
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4312717/
https://ncbi.nlm.nih.gov/pubmed/25541100
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2014.12.299
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