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)