Enzyme replacement therapy (ERT) became a reality for patients with Pompe disease, a
fatal cardiomyopathy and skeletal muscle myopathy caused by a deficiency of glycogen …

Pompe disease is caused by an inherited deficiency of acid α-glucosidase (GAA), a
lysosomal enzyme that catalyzes the breakdown of glycogen to glucose. In the absence of …

In Pompe disease, a deficiency of lysosomal acid alpha-glucosidase, glycogen accumulates
in multiple tissues, but clinical manifestations are mainly due to skeletal and cardiac muscle …

Pompe disease, a deficiency of glycogen-degrading lysosomal acid alpha-glucosidase
(GAA), is a disabling multisystemic illness that invariably affects skeletal muscle in all …

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 …

Autophagy, an intracellular system for delivering portions of cytoplasm and damaged
organelles to lysosomes for degradation/recycling, plays a role in many physiological …

Pompe disease (type II glycogen storage disease) is an autosomal recessive disorder
caused by a deficiency of lysosomal acid α-glucosidase (GAA) leading to the accumulation …

The role of autophagy, a catabolic lysosome-dependent pathway, has recently been
recognized in a variety of disorders, including Pompe disease, which results from a …

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 …

Pompe disease is a rare inherited disorder of lysosomal glycogen metabolism due to acid α-
glucosidase (GAA) deficiency. Enzyme replacement therapy (ERT) using alglucosidase alfa …