Abstract
Background Pompe disease is a lysosomal storage disorder characterized by the deficiency of acid α-glucosidase (GAA). Whether outcomes differ between very early (few days of age) and early (few weeks of age) ERT is unknown. In our series, 789,797 newborns were screened for Pompe disease. After 2010, we combined nationwide screening system with rapid diagnostic strategies. Treatment could be started at about 10 days of age. We analyzed the outcomes of our patients and compared these data to other IOPD cohort studies.
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