Patients 2 and 3 were prenatally diagnosed with Pompe disease and were enrolled in the study when the diagnosis was confirmed postnatally in skin fibroblasts and/or muscle biopsy. Both patients 2 ...

Purpose: A clinical trial was conducted to evaluate the safety and efficacy of alglucosidase alfa in infants and children with advanced Pompe ... muscle dysfunction. 1 The rate of disease ...

Pompe disease results from a deficiency of an enzyme called acid-alpha-glucosidase (GAA), leading to massive lysosomal glycogen buildup in striated muscle, resulting in respiratory failure ...