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 …

When clinical trials for enzyme replacement therapy for Pompe disease commenced, a need
for newborn screening (NBS) for Pompe disease was recognized. Two methods for NBS for …

BACKGROUND: Pompe disease is caused by a deficiency in acid α-glucosidase (GAA) and
results in progressive, debilitating, and often life-threatening symptoms. Newborn screening …

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) …

Purpose To describe a novel biochemical marker in dried blood spots suitable to improve
the specificity of newborn screening for Pompe disease. Methods The new marker is a ratio …

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 …

Abstract background: Pompe disease, caused by the deficiency of acid α-glucosidase
(GAA), is a lysosomal storage disorder that manifests itself in its most severe form within the …

Pennsylvania started newborn screening for Pompe disease in February 2016. Between
February 2016 and December 2019, 531,139 newborns were screened. Alpha-Glucosidase …

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 …

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%) …