The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.

Affiliation

Albert Einstein College of Medicine and the Children's Hospital at Montefiore, Bronx, New York, USA. [Email]

Abstract

We conducted a consented pilot newborn screening (NBS) for Pompe, Gaucher, Niemann-Pick A/B, Fabry, and MPS 1 to assess the suitability of these lysosomal storage disorders (LSDs) for public health mandated screening.

Keywords

newborn screening,pilot newborn screen; lysosomal storage disorders; informed consent,