Pompe's disease is a lysosomal storage disorder caused by a genetic deficiency of GAA. The disease is associated with severe and progressive physical disability and premature death, and patients ...

Late-onset Pompe disease is a rare, debilitating, and life-threatening lysosomal disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA).

Both CRIM-positive and CRIM-negative patients with infantile-onset Pompe’s disease who were receiving enzyme-replacement therapy were reported to have anti-GAA IgG. 30-32 A negative immune ...

Recently, pharmacological chaperone therapy for Pompe disease with small molecules such as imino sugars has attracted interest. But mutant acid α-glucosidase (GAA) species responsive to imino ...

Pompe disease is a rare, inherited genetic disorder in which the body cannot break down glycogen, leading to muscle weakness and an enlarged heart.

Lysosomal storage diseases (LSDs) are rare genetic disorders caused by lack of enzymes. Learn how these rare genetic conditions impact health and development.

3.1 Pompe disease is a rare, genetic, chronic and progressive metabolic disease, resulting in severe disability and a reduced life expectancy. Pompe disease is caused by mutations in the gene that ...

In cultured Pompe disease fibroblasts and in Pompe (GAA-deficient) mice, VAL-1221 was found to reduce lysosomal glycogen accumulation as effectively as current enzyme replacement therapies, and ...