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

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) …

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%) …

The aim of this study was to:(a) analyze the results of a large‐scale newborn screening
program for Pompe disease, and (b) establish an effective diagnostic protocol to obtain …

Background Pompe disease is an autosomal recessive inherited metabolic disorder caused
by a deficiency of the acid α-glucosidase (GAA). Pompe disease manifests as an …

Objective Newborn screening (NBS) has led to early diagnosis and early initiation of
treatment for infantile onset Pompe Disease (IOPD). However, guidelines for management of …

Pompe disease is an inherited lysosomal storage disorder caused by acid alpha-
glucosidase (GAA) enzyme deficiency, resulting in muscle and neuron intralysosomal …

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 …

Abstract The Lantern Project is an ongoing complimentary diagnostic program for patients in
the United States sponsored by Sanofi and implemented by PerkinElmer Genomics. It …

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 …