Abstract Lysosomal Storage Disorders (LSDs) are a diverse group of inherited, monogenic
diseases caused by functional defects in specific lysosomal proteins. The lysosome is a …

Pompe disease is an inherited neuromuscular disorder caused by deficiency of the
lysosomal enzyme acid alpha-glucosidase (GAA). The most severe form is infantile-onset …

The neuromuscular junction (NMJ) is a specialized cholinergic synaptic interface between a
motor neuron and a skeletal muscle fiber that translates presynaptic electrical impulses into …

Rationale: Obstructive sleep apnea is recurrent upper airway obstruction caused by a loss of
upper airway muscle tone during sleep. The main goal of our study was to determine if …

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

Gene therapy for the treatment of patients with Pompe disease is feasible and offers an
opportunity to fully correct the principal pathology leading to cellular glycogen accumulation …

Pompe disease is a lysosomal storage disease resulting from absence or deficiency of acid
α-glucosidase (GAA). Tongue-related disorders including dysarthria, dysphagia, and …

Pompe disease is a glycogen storage disease caused by a deficiency in acid α-glucosidase
(GAA), a hydrolase necessary for the degradation of lysosomal glycogen. This deficiency in …

Dysfunction and/or reduced activity in the tongue muscles contributes to conditions such as
dysphagia, dysarthria, and sleep disordered breathing. Current treatments are often …

Inadequate tongue muscle activation contributes to dysarthria, dysphagia, and obstructive
sleep apnea. Thus, treatments which increase tongue muscle activity have potential clinical …