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

Background Pompe disease is an autosomal recessive disorder caused by deficiency of the
lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase (GAA). The adult-onset form …

Objective: To determine the effect of enzyme replacement therapy (ERT) after 5 years and to
identify predictors for a favorable response because few data are available on the long-term …

Objective To determine the effects of 10 years of enzyme replacement therapy (ERT) in adult
patients with Pompe disease, focusing on individual variability in treatment response …

Purpose Computed tomography (CT) and magnetic resonance imaging (MRI) scans are
used to assess and monitor several pediatric lung diseases. It is well recognized that lung …

Pompe disease (PD) is caused by the deficiency of the lysosomal enzyme acid α-
glucosidase (GAA), resulting in systemic pathological glycogen accumulation. PD can …

Late-onset Pompe disease (LOPD) causes myopathy of skeletal and respiratory muscles,
and phrenic nerve pathology putatively contributes to diaphragm weakness. The aim of this …

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 …

Despite a wide clinical spectrum, the adult form of Pompe disease is the most common one,
and represents more than 90% of diagnosed patients in France. Since the marketing of …

Objectives Pompe disease is a progressive metabolic myopathy for which enzyme
replacement therapy (ERT) was approved in 2006. While various publications have …