The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are
caused for the most part by enzyme deficiencies within the lysosome resulting in …

Pompe disease is a rare and deadly muscle disorder. As a clinical entity, the disease has
been known for over 75 years. While an optimist might be excited about the advances made …

Background Pompe disease is a rare disorder characterised by progressive loss of muscle
and respiratory function due to acid α-glucosidase deficiency. Enzyme replacement therapy …

Background and purpose Pompe disease is a rare inheritable muscle disorder for which
enzyme replacement therapy (ERT) has been available since 2006. Uniform criteria for …

Glycogen storage disease type II or Pompe disease is a severe neuromuscular disorder
caused by mutations in the lysosomal enzyme, acid α-glucosidase (GAA), which result in …

Lysosomal Storage Diseases are multisystemic disorders determined by genetic variants,
which affect the proteins involved in lysosomal function and cellular metabolism. Different …

Importance In the previously reported Comparative Enzyme Replacement Trial With
neoGAA Versus rhGAA (COMET) trial, avalglucosidase alfa treatment for 49 weeks showed …

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 …

Lysosomes play a central role in cellular homeostasis and alterations in this compartment
associate with many diseases. The most studied example is that of lysosomal storage …

Background Pompe disease is a rare, progressive neuromuscular disorder caused by
deficiency of acid α-glucosidase (GAA) and accumulation of lysosomal glycogen. We …