Pompe disease gene therapy

Pompe disease is an autosomal recessive metabolic myopathy caused by the deficiency of the lysosomal enzyme acid alpha-glucosidase and results in cellular lysosomal and cytoplasmic glycogen accumulation. A wide spectrum of disease exists from hypotonia and severe cardiac hypertrophy in the first few...

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Detalhes bibliográficos
Main Authors: Byrne, Barry J., Falk, Darin J., Pacak, Christina A., Nayak, Sushrusha, Herzog, Roland W., Elder, Melissa E., Collins, Shelley W., Conlon, Thomas J., Clement, Nathalie, Cleaver, Brian D., Cloutier, Denise A., Porvasnik, Stacy L., Islam, Saleem, Elmallah, Mai K., Martin, Anatole, Smith, Barbara K., Fuller, David D., Lawson, Lee Ann, Mah, Cathryn S.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2011
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Reviews
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3095055/
https://ncbi.nlm.nih.gov/pubmed/21518733
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr174
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