Pompe disease (GSD II) is an autosomal recessive disorder caused by deficiency of the
lysosomal enzyme acid-a-glucosidase (GAA; EC 3.2. 1.20), leading to generalized …

Background Due partly to physicians' unawareness, many adults with Pompe disease are
diagnosed with great delay. Besides, it is not well known which factors influence the rate of …

Pompe disease (MIM# 232300) is an autosomal recessive lysosomal glycogen storage
disorder first described in 1932 (1) and it is caused by biallelic mutations in the GAA gene …

Pompe's disease is a neuromuscular disorder caused by deficiency of lysosomal acid α–
glucosidase. Recombinant human α–glucosidase is under evaluation as therapeutic drug. In …

Background Pompe disease is an autosomal recessive metabolic neuromuscular disorder
caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). It has long …

Pompe disease is a lysosomal storage disease due to deficient acid α-glucosidase (GAA)
activity. Infants with the classic infantile-onset subtype present with severe hypotonia and …

Abstract Pompe disease (OMIM 232300), a glycogen storage disorder caused by deficiency
in the lysosomal enzyme acid alpha-glucosidase (EC 3.2. 1.20), results in weakness and …

The diagnosis of late‐onset (childhood and adult) Pompe disease can often be challenging,
as it is a rare disease and the heterogeneous clinical presentation can mimic the …

Glycogen storage disease type II (GSD-II), also known as Pompe disease, is a rare
autosomial recessive disease due to deficiency of lysosomal acidα-glucosidase (GAA). The …

Pompe disease, which is also known as acid maltase deficiency and glycogen storage
disease type II, derived its name from the Dutch pathologist Dr JC Pompe, who described it …