Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA
gene, localized on chromosome 17 and encoding for acid alpha-1, 4-glucosidase (GAA) …

Pompe disease, also known as glycogen storage disease type II, is caused by the lack or
deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac …

Objective To determine the effects of 10 years of enzyme replacement therapy (ERT) in adult
patients with Pompe disease, focusing on individual variability in treatment response …

Identification of variants in the acid α‐glucosidase (GAA) gene in Pompe disease provides
valuable insights and systematic overviews are needed. We report on the number, nature …

In patients with late-onset Pompe disease (LOPD), the efficacy of the enzyme replacement
therapy (ERT) with recombinant human alpha-glucosidase (rhGAA) is difficult to evaluate …

Pompe disease is a rare inherited metabolic disorder of defective lysosomal glycogen
catabolism due to a deficiency in acid alpha-glucosidase (GAA). Alglucosidase alfa enzyme …

Background Pompe disease is one of the few neuromuscular diseases with an approved
drug therapy, which has been available since 2006. Our study aimed to determine the real …

Late onset Pompe disease (LOPD) is a slow, progressive disorder characterized by skeletal
and respiratory muscle weakness. Enzyme replacement therapy (ERT) slows down the …

The complexity of the pathogenic cascade in lysosomal storage disorders suggests that
combination therapy will be needed to target various aspects of pathogenesis. The standard …

Metabolic myopathies are characterized by the deficiency or dysfunction of essential
metabolites or fuels to generate energy for muscle contraction; they most commonly manifest …