Acid alpha-glucosidase gene replacement therapy to the diaphragm remodels ventilatory function in severe Pompe disease (1091.8)

Barbara K Smith,Daniel Martin,Cathryn Mah,Lee Ann Lawson,Darin J Falk,David D Fuller,Saleem Islam,Shelley W Collins,Barry J Byrne

The FASEB Journal（2014）

Cited 0|Views7

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Abstract

Pompe disease is a neuromuscular disorder due to mutations in the gene that encodes the acid alpha-glucosidase (GAA) enzyme, which results in lysosomal glycogen accumulation in striated muscle and ...

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Key words

severe pompe disease,diaphragm,ventilatory function

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