Giuseppe Montefusco

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AIM Dysphagia is a known complication in Pompe Disease (PD), a severe metabolic myopathy due to alpha-glucosidase deficiency. Enzyme replacement therapy (ERT) with alglucosidase alfa is the only approved therapy for PD. Presently no data are available on the effects of ERT on dysphagia in PD patients. The aim of this work is to evaluate the course of this(More)
Pompe disease (PD) is a rare metabolic myopathy. It is caused by the deficiency of the lysosomal enzyme acid alpha glucosidase (GAA), with a consequent generalized storage of glycogen, particularly in the heart, skeletal muscle and liver. It has been reported an overall incidence of 1 in 40.000 live birth, with a different frequency in different races. The(More)
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