Clinical, pathological and genetic features as well as follow-up of 68 patients with late-onset Pompe disease: a single-center retrospective study (opens in new tab)

IntroductionPompe disease is a muscular lysosomal storage disorder characterized by autosomal recessive inheritance and caused by deficiency of the acid alpha-glucosidase (GAA) enzyme. Late-onset Pompe disease (LOPD) exhibits heterogeneous clinical presentations, which are influenced by the type of GAA mutation and residual enzyme activity.MethodsIn this study, we conducted a retrospective analysis of 68 Chinese LOPD patients over a 17-year period at a single center to delineate the real-worl...