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Autor:
Darin J Falk, Meghan S Soustek, Adrian Gary Todd, Cathryn S Mah, Denise A Cloutier, Jeffry S Kelley, Nathalie Clement, David D Fuller, Barry J Byrne
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 2, Iss , Pp - (2015)
Pompe disease is an autosomal recessive genetic disorder characterized by a deficiency of the enzyme responsible for degradation of lysosomal glycogen (acid α-glucosidase (GAA)). Cardiac dysfunction and respiratory muscle weakness are primary feat
Externí odkaz:
https://doaj.org/article/442ce2508cf241e9bda6b41c905115b6
