Abstract
Pompe disease was added to the Recommended Uniform Screening Panel in the United States in 2015. Currently, 28 states screen for Pompe disease at birth, and patients with late-onset Pompe disease (LOPD) represent about 80% of all confirmed cases. While infantile-onset Pompe disease (IOPD) can often be rapidly diagnosed based on absent or severely deficient GAA enzyme activity and notable clinical features such as cardiomegaly and muscle weakness, diagnostic confirmation of LOPD is often more challenging due to the lack of obvious clinical features in the newborn period.
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