(MENAFN- PR Newswire) 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 ...

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 ...

The therapy has been designated GENV-002. Pompe disease results from a deficiency of an enzyme called acid-alpha-glucosidase (GAA), leading to massive lysosomal glycogen buildup in striated ...

A Compete for a Cause Talent Competition fundraiser was held in the Sheridan College's Kinnison Hall Saturday, April 5, 2025. The fundraiser was for Rylee Scheeler who was diagnosed with Pompe Disease ...

The significance of the findings is important in the context of Niemann-Pick Disease Type C as well as other subfields. Niemann–Pick disease type C (NPC) is a devastating lysosomal storage disease ...

Collaborative Innovation Center of Yangtze River Delta Region Green Pharmaceuticals, College of Pharmaceutical Sciences, Zhejiang University of Technology, China; Department of Molecular, Cellular, ...

Everyone with Pompe disease is diagnosed at different times in life, so the level of muscle weakness differs from person to person. My daily challenges might be different from those of the next person ...

Unfortunately for me, I lost my friends, even my best friend.I was diagnosed with Pompe disease at age 12. It wasn’t until years later that I began treatment, so my health declined rapidly over time.

MacPherson has been confined to an electric wheelchair and has had to rely on a ventilator since 1999 at the age of 19 when Pompe, a debilitating disease, overtook his body. He was diagnosed as a ...

Purpose: A clinical trial was conducted to evaluate the safety and efficacy of alglucosidase alfa in infants and children with advanced Pompe disease. Methods: Open-label, multicenter study of IV ...