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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Опубликовано в: :Mol Genet Metab
Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: 2014
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Article
Online-ссылка: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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