Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA
gene, localized on chromosome 17 and encoding for acid alpha-1, 4-glucosidase (GAA) …

Pompe disease is classified by age of onset, organ involvement, severity, and rate of
progression in two main forms: the first one, infantile onset Pompe disease (IOPD), presents …

Pompe disease (glycogen storage disease type II) is caused by mutations in acid α-
glucosidase (GAA) resulting in lysosomal pathology and impairment of the muscular and …

Neurodegenerative diseases (NDs), such as Alzheimer's disease (AD), Parkinson's disease
(PD) and multiple sclerosis (MS), are relatively common and devastating neurological …

Pompe disease (PD) is a lysosomal storage disorder caused by deficiency of the lysosomal
enzyme acid-alpha glucosidase (GAA). Pathogenic variants in the GAA gene lead to …

Background: Pompe disease, also denoted as acid maltase or acid α-glucosidase deficiency
or glycogen storage disease type II, is a rare, autosomal recessive lysosomal storage …

Pompe disease is a metabolic myopathy due to acid alpha‐glucosidase deficiency. In
addition to glycogen storage, secondary dysregulation of cellular functions, such as …

Pompe disease is a neuromuscular disease caused by a deficiency of the lysosomal
enzyme acid alpha-glucosidase leading to lysosomal and cytoplasmic glycogen …

Gene therapy with an adeno-associated virus serotype 8 (AAV8) vector (AAV8-LSPhGAA)
could eliminate the need for enzyme replacement therapy (ERT) by creating a liver depot for …

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 …