Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy

Pompe disease is a neuromuscular disease caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase leading to lysosomal and cytoplasmic glycogen accumulation in neurons and striated muscle. In the decade since availability of first-generation enzyme replacement therapy (ERT) a better und...

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Detalhes bibliográficos
Publicado no:Ann Transl Med
Main Authors: Byrne, Barry J., Fuller, David D., Smith, Barbara K., Clement, Nathalie, Coleman, Kirsten, Cleaver, Brian, Vaught, Lauren, Falk, Darin J., McCall, Angela, Corti, Manuela
Formato: Artigo
Idioma:Inglês
Publicado em: AME Publishing Company 2019
Assuntos:
Review Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6642929/
https://ncbi.nlm.nih.gov/pubmed/31392202
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2019.05.56
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