Scholars@Duke
Sarah Phyllis Young

Sarah Phyllis Young

Professor of Pediatrics
Pediatrics, Medical Genetics
Box 103856, Durham, NC 27710
801 Capitola Drive, Suite 6, Durham, NC 27713

Scholarly Works - Preprints

Early Detection in Action: Developing and Refining Newborn Screening for Pompe Disease in North Carolina

Preprint · 2026 Pompe disease, a lysosomal disease, was added to the Recommended Uniform Screening Panel in 2015, and it has been included in the newborn screening (NBS) panel in North Carolina (NC) since February 2023. Across the world, the approach to NBS for Po ... Full text Cite