Sushrusha Nayak, Phillip A. Doerfler, Stacy L. Porvasnik, Denise D. Cloutier, Richie Khanna, Ken J. Valenzano, Roland W. Herzog, Barry J. Byrne
Abstract:Enzyme replacement therapy (ERT) with recombinant human acid-α-glucosidase (rhGAA) is the only FDA approved therapy for Pompe disease. Without ERT, severely affected individuals (early onset) succumb to the disease within 2 years of life. A spectrum of disease severity and progression exists depending upon the type of mutation in the GAA gene (GAA), which in turn determines the amount of defective protein produced and its enzymatic activity. A large percent of the early onset patients are also cross reactive i…
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