Pompe disease is an inborn error of lysosomal degradation of glycogen. The responsible
enzyme is acid alpha-glucosidase (GAA). In the severe form of the disease, or infantile-onset …

OBJECTIVE. Pompe disease is an autosomal recessive lysosomal storage disorder that is
caused by deficient acid α-glucosidase activity and results in progressive, debilitating, and …

Background Pompe disease is an autosomal recessive inherited metabolic disorder caused
by a deficiency of the acid α-glucosidase (GAA). Pompe disease manifests as an …

Pompe disease is an inherited lysosomal storage disorder caused by acid alpha-
glucosidase (GAA) enzyme deficiency, resulting in muscle and neuron intralysosomal …

BACKGROUND. Pompe disease is a lysosomal storage disorder that leads to the
accumulation of glycogen and subsequently to muscle weakness, organ damage, and …

Glycogen storage disease type II (also known as Pompe disease (PD)) is an autosomal
recessive disorder caused by defects in α-glucosidase (AαGlu), resulting in lysosomal …

OBJECTIVE: Pompe disease causes progressive, debilitating, and often life-threatening
musculoskeletal, respiratory, and cardiac symptoms. Favorable outcomes with early …

The aim of this study was to:(a) analyze the results of a large‐scale newborn screening
program for Pompe disease, and (b) establish an effective diagnostic protocol to obtain …

Pennsylvania started newborn screening for Pompe disease in February 2016. Between
February 2016 and December 2019, 531,139 newborns were screened. Alpha-Glucosidase …

BACKGROUND: Pompe disease is caused by a deficiency in acid α-glucosidase (GAA) and
results in progressive, debilitating, and often life-threatening symptoms. Newborn screening …