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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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Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2011
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Accesso online: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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