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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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Dades bibliogràfiques
Publicat a:Mol Genet Metab
Autors principals: 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
Idioma:Inglês
Publicat: 2014
Matèries:
Accés en línia: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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