Prevalence of late-onset pompe disease in Portuguese patients with diaphragmatic paralysis – DIPPER study

AbstractPompe disease is a rare autosomal recessive neuromuscular disorder caused by acid α-glucosidase enzyme (GAA) deficiency and divided into two distinct variants, infantile- and late-onset. The late-onset variant is characterized by a spectrum of phenotypic variation that may range from asympto...

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