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 …

Pompe disease is caused by a deficiency of acid alpha-glucosidase (GAA) that results in
glycogen accumulation, primarily in muscle. Newborn screening (NBS) for Pompe disease …

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 …

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 …

The high frequency (3.3–3.9%) of acid α-glucosidase pseudodeficiency, c.[1726G> A;
2065G> A] homozygote (AA homozygote), in Asian populations complicates newborn …

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) …

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 …

A newborn screening program for Pompe disease using dried blood spots (DBSs) was
initiated in Japan. Here, we summarized this screening program and described the results of …

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 …

Glycogen storage disease type II (also known as Pompe disease (PD)) is an autosomal
recessive disorder caused by defects in α-glucosidase (AαGlu), resulting in lysosomal …