Neuroimaging Findings in Infantile Pompe Patients Treated with Enzyme Replacement Therapy

BACKGROUND: Recombinant human acid α-glucosidase (rhGAA) enzyme replacement therapy (ERT) has prolonged survival in infantile Pompe disease (IPD), but has unmasked central nervous system (CNS) changes. METHODS: Brain imaging, consisting of computed tomography (CT) and/or magnetic resonance imaging (...

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Udgivet i:Mol Genet Metab
Main Authors: McIntosh, Paul T., Hobson-Webb, Lisa D., Kazi, Zoheb B., Prater, Sean N., Banugaria, Suhrad G., Austin, Stephanie, Wang, Raymond, Enterline, David S., Frush, Donald P., Kishnani, Priya S.
Format: Artigo
Sprog:Inglês
Udgivet: 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5808895/
https://ncbi.nlm.nih.gov/pubmed/29050825
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2017.10.005
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