Article
Immune responses and hypercoagulation in ERT for Pompe disease are mutation and rhGAA dose dependent.
PloS one - 1 Jan 2014
Nayak Sushrusha, Doerfler Phillip A, Porvasnik Stacy L, Cloutier Denise D, Khanna Richie, Valenzano Ken J, Herzog Roland W, Byrne Barry J
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.