BACKGROUND. Pompe disease is a lysosomal storage disorder that leads to the
accumulation of glycogen and subsequently to muscle weakness, organ damage, and …

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 …

Abstract Background Neonatal screening for Pompe disease has been introduced in Taiwan
and a few US states, while other jurisdictions including some European countries are …

Purpose To estimate health and economic outcomes associated with newborn screening
(NBS) for infantile-onset Pompe disease in the United States. Methods A decision analytic …

Statewide newborn screening for Pompe disease began in Illinois in 2015. As of 30
September 2019, a total of 684,290 infants had been screened and 395 infants (0.06%) …

Background Developments in enzyme replacement therapy have kindled discussions on
adding Pompe disease, characterized by progressive muscle weakness and wasting, to …

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 …

In 2015, Pompe disease became the first lysosomal storage disorder to be recommended for
universal newborn screening by the Secretary of the US Department of Health and Human …

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 …

After a Pompe disease diagnosis is confirmed in infants identified through newborn
screening (NBS), when and if to start treatment with enzyme replacement therapy (ERT) with …