The diaphragm is the main breathing muscle and contraction of the diaphragm is vital for
ventilation so any disease that interferes with diaphragmatic innervation, contractile muscle …

Many neurological diseases may cause acute respiratory failure (ARF) due to involvement of
bulbar respiratory center, spinal cord, motoneurons, peripheral nerves, neuromuscular …

Respiratory muscle weakness is a major cause of morbidity and mortality in patients with
neuromuscular diseases (NMDs). Respiratory involvement in NMDs can manifest broadly …

Background: Pompe disease, also denoted as acid maltase or acid α-glucosidase deficiency
or glycogen storage disease type II, is a rare, autosomal recessive lysosomal storage …

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 (PD) is a neuromuscular disorder caused by a deficiency of acid alpha-
glucosidase (GAA)–a lysosomal enzyme responsible for hydrolyzing glycogen. GAA …

Lysosomal storage diseases (LSD) include a wide range of different disorders with variable
degrees of respiratory system involvement. The purpose of this narrative review is to treat …

Inhibition of α-glucosidase is directly associated with treatment of type 2 diabetes. In this
regard, we conducted enzyme kinetics integrated with computational docking simulation to …

Background The efficacy of enzyme replacement therapy (ERT) in patients at an advanced
stage of Pompe disease has only been addressed in a few studies. Our objective was to …

This consensus statement by a panel of neurology experts aimed to provide a practical and
implementable guidance document to assist clinicians with the best clinical practice in terms …