There is mounting evidence in support of universal newborn screening for Pompe disease.
Early treatment of children with infantile Pompe disease, prior to clinical diagnosis, is clearly …

Started in 1963 by Robert Guthrie, newborn screening (NBS) is considered to be one of the
great public health achievements. Its original goal was to screen newborns for conditions …

Diagnostic delays in Pompe disease are common. The diagnostic gap (the time from the
onset of symptoms to the diagnosis of Pompe disease) and factors associated with …

OBJECTIVE. Pompe disease is an autosomal recessive lysosomal storage disorder that is
caused by deficient acid α-glucosidase activity and results in progressive, debilitating, and …

OBJECTIVE: Pompe disease causes progressive, debilitating, and often life-threatening
musculoskeletal, respiratory, and cardiac symptoms. Favorable outcomes with early …

Public health programs in the United States screen more than four million babies each year
for at least 30 genetic disorders. The Health and Human Services (HHS) Advisory …

Newborn screening (NBS) for Pompe disease is done through analysis of acid α-
glucosidase (GAA) activity in dried blood spots. When GAA levels are below established …

Since the introduction of enzyme replacement therapy for Pompe disease, awareness and
early diagnosis have gained importance. Because the therapy is most effective when started …

FUNDING: Sanofi Genzyme (Cambridge, MA) facilitated and provided financial support for
the meeting of the Pompe Disease Newborn Screening Working Group to discuss and …

The California Department of Public Health started universal newborn screening for Pompe
disease in August 2018 with a two-tier process including:(1) acid alpha-glucosidase (GAA) …