Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a
defect in the synthesis or breakdown of glycogen. This Primer describes the multi-organ …

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 …

One of the main causes of heart failure is cardiomyopathies. Among them, the most common
is hypertrophic cardiomyopathy (HCM), characterized by thickening of the left ventricular …

Cipaglucosidase alfa plus miglustat (cipa+ mig) is a novel, two-component therapy for
Pompe disease. We report data from the Phase I/II ATB200-02 study for up to 48 months of …

ABSTRACT Introduction Glycogenosis type II (GSDII) is a rare autosomal disorder that is
caused by the deficiency of alpha-glucosidase, a lysosomal enzyme that hydrolyzes …

Introduction: Pompe disease is an inherited, progressive neuromuscular disorder caused by
deficiency of lysosomal acid α-glucosidase and accumulation of glycogen in tissues …

Pompe disease is a neuromuscular disorder caused by a deficiency of the lysosomal
enzyme acid alpha-glucosidase (GAA), hydrolyzing glycogen to glucose. Pathological …

Peptide and protein nanostructures with tunable structural features, multifunctionality,
biocompatibility and biomolecular recognition capacity enable development of efficient …

Background and purpose Two novel enzyme replacement therapies (ERTs), studied in
phase 3 trials in late‐onset Pompe patients, reached marketing authorization by the …

Abstract Introduction Infantile-onset Pompe disease (IOPD) is due to mutations in the GAA
gene leading to profound deficiency of the lysosomal enzyme α-1, 4-glucosidase. The …