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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Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2011
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Reviews
Accès en ligne: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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