Glycogen storage disease type 2/Pompe disease is a progressive muscle disorder with a
wide range of phenotypic presentations, caused by an inherited deficiency of acid alpha …

Introduction: Pompe disease is a rare, autosomal recessive disorder caused by deficiency of
the glycogen‐degrading lysosomal enzyme acid alpha‐glucosidase. Late‐onset Pompe …

The aim of this retrospective study was to determine the prevalence of lysosomal storage
disorders (LSDs) in the Czech Republic. The data on cases diagnosed between 1975 and …

Pompe disease (glycogen storage disease type II or acid maltase deficiency) is a lysosomal
disorder in which acid α-glucosidase (GAA) deficiencies lead to intralysosomal …

Tandem mass spectrometry (MS/MS) has become a leading technology used in clinical
chemistry and has shown to be particularly sensitive and specific when used in newborn …

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

Pompe disease, also known as glycogen storage disease type II, is caused by the lack or
deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac …

Impaired degradation of glycosaminoglycans (GAGs) with consequent intralysosomal
accumulation of undegraded products causes a group of lysosomal storage disorders …

Objective: To estimate the prevalence rates (PRs) of acquired and inherited neuromuscular
diseases (NMD) in the adult Irish population, reflecting the burden of these conditions in a …

Every newborn in the US is screened for at least 29 disorders, where evidence suggests that
early detection is possible and beneficial. With new or improved treatment options and …