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Novel approaches to quantify CNS involvement in children with Pompe disease

OBJECTIVE: To characterize the extent of CNS involvement in children with Pompe disease using brain MRI and developmental assessments. METHODS: The study included 14 children (ages 6–18 years) with infantile Pompe disease (IPD) (n = 12) or late-onset Pompe disease (LOPD) (n = 2) receiving enzyme rep...

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Detalhes bibliográficos
Publicado no:Neurology
Main Authors: Korlimarla, Aditi, Spiridigliozzi, Gail A., Crisp, Kelly, Herbert, Mrudu, Chen, Steven, Malinzak, Michael, Stefanescu, Mihaela, Austin, Stephanie L., Cope, Heidi, Zimmerman, Kanecia, Jones, Harrison, Provenzale, James M., Kishnani, Priya S.
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7455359/
https://ncbi.nlm.nih.gov/pubmed/32518148
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000009979
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