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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Mol Genet Metab
Κύριοι συγγραφείς: 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.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: 2014
Θέματα:
Article
Διαθέσιμο Online: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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