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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Gepubliceerd in:Mol Genet Metab
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2014
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Article
Online toegang: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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