Mass Spectrometry

Screening Programs May Identify Newborns at Risk for Late-onset Pompe Disease, Other Lysosomal Storage Disorders

Newborn screening for lysosomal storage disorders, including Pompe disease, is much more likely to detect individuals at risk for late-onset disease, according to a four-fear analysis of data from a pilot newborn screening program. The study “The New York pilot newborn screening program for lysosomal storage diseases: Report of the…