Newborn screening for Pompe disease: Parental experiences and follow‐up care for a late‐onset diagnosis

Newborn screening (NBS) for Pompe disease (PD) was added to the Recommended Uniform Screening Panel (RUSP) in the United States in 2015 because there was compelling evidence of health benefits for early diagnosis of Infantile‐onset Pompe disease (IOPD). However, one limitation of NBS for PD is its i...

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