Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri

The first ever published study of prospective newborn screening for lysosomal storage disorders in the U.S. highlights the results from the first 6 months of newborn screening in Missouri for Pompe, Gaucher, Fabry and MPS I.

Authors: Patrick V. Hopkins, Carlene Campbell, Tracy Klug, Sharmini Rogers, Julie Raburn-Miller, Jami Kiesling

J Pediatrics. 2015 Jan;166(1):172-7. doi: 10.1016/j.jpeds.2014.09.023. Epub 2014 Oct 18. (not freely available)