Scholars@Duke
Erin Huggins

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