The diagnosis of Pompe disease (acid maltase deficiency, glycogen storage disease type II)
in children and adults can be challenging because of the heterogeneous clinical …

Pompe disease is an autosomal recessive muscle-wasting disorder caused by the
deficiency of the lysosomal enzyme acid alpha-glucosidase. Due to virtual absence of acid …

Purpose To investigate the correlation of the urinary glucose tetrasaccharide, Glcα1-6Glcα1-
4Glcα1-4Glc,(Glc 4) with skeletal muscle glycogen content and the long-term clinical …

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 …

Pompe disease is an autosomal recessive, progressive, debilitating, and often fatal
neuromuscular disorder caused by deficiency of lysosomal acid α-glucosidase (GAA). It is …

Infantile Pompe disease (IPD) is a fatal, autosomal recessive muscle-wasting disorder. Due
to a deficiency of the lysosomal enzyme acid alpha-glucosidase patients develop a …

Abstract Purpose of Review This review summarizes the clinical presentation and provides
an update on the current strategies for diagnosis of Pompe disease. We will review the …

Pompe disease (type 2 glycogenosis, acid maltase deficiency) is a disorder affecting
skeletal and cardiac muscle, caused by deficiency of acid α-glucosidase. In 2006 enzyme …

Pompe disease (acid maltase deficiency; glycogen storage disease type II) is caused by
deficiency of the lysosomal enzyme acid alpha‐glucosidase (GAA). Our clinical laboratory …

Pompe disease, a disorder caused by a deficiency in the lysosomal enzyme acid alpha
glucosidase, is frequently overlooked as a cause of floppy baby syndrome. The accurate …