Diaphragm muscle dysfunction is increasingly recognized as an important element of
several diseases including neuromuscular disease, chronic obstructive pulmonary disease …

Pompe disease (PD) is an autosomal recessive disorder caused by mutations in the GAA
gene that lead to a deficiency in the acid alpha-glucosidase enzyme. Two clinical …

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 …

Respiratory muscles are classically involved in neuromuscular disorders, leading to a
restrictive respiratory pattern. The diaphragm is the main respiratory muscle involved during …

This multicenter/multinational, open-label, ascending-dose study (NCT01898364) evaluated
safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of repeat …

Background and Objectives Pompe disease is a rare, progressive neuromuscular disorder
caused by deficiency of lysosomal acid α-glucosidase (GAA) and subsequent glycogen …

Objective A multicentre observational study was aimed to assess the prevalence of late-
onset Pompe disease (LOPD) in a large high-risk population, using the dried blood spot …

Pompe disease is a rare metabolic disorder, due to mutations in the gene encoding acid
alpha-glucosidase (GAA), of which infantile and late-onset forms may occur. Aim of the work …

Glycogen storage diseases (GSDs) comprise a group of inherited metabolic disorders
characterized by defects in glycogen metabolism, leading to abnormal glycogen …

Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by
progressive myopathy with proximal muscle weakness, respiratory muscle dysfunction, and …