Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment

Pompe disease is a rare metabolic disorder, due to mutations in the gene encoding acid alpha-glucosidase (GAA), of which infantile and late-onset forms may occur. Aim of the work was to analyze clinical and laboratory data of a cohort of late-onset Pompe disease (LOPD) patients, collected during the...

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