Pompe disease (PD) is an inherited metabolic disorder caused by a deficiency of acid α-
glucosidase (GAA), leading to lysosomal accumulation of glycogen, mainly in skeletal and …

Pompe disease (PD) is screened by a two tier newborn screening (NBS) algorithm, the first
tier of which is an enzymatic assay performed on newborn dried blood spots (DBS). As first …

Newborn screening (NBS) for Pompe disease (PD) was added to the Recommended
Uniform Screening Panel (RUSP) in the United States in 2015 because there was …

Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr.
Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for …

The addition of Pompe disease (PD) and other conditions with later-onset forms to newborn
screening (NBS) in the United States (US) has been controversial. NBS technology cannot …

Pompe Disease is a spectrum disorder with an evolving phenotype in which diagnostic
delay is common. Contributing factors include the rarity of the disorder, its wide clinical …

Abstract Background Infantile‐onset Pompe disease (IOPD) is the most severe phenotype of
a lysosomal storage disorder caused by acid alpha‐glucosidase (GAA) deficiency. An …

Pompe disease was added to the United States recommended uniform screening panel in
2015 to avoid diagnostic delay and implement prompt treatment, specifically for those with …

Glycogen storage disease type II, also known as Pompe disease (PD), is caused by aberrant
or absent expression of the lysosomal enzyme acid-alfa-glucosidase (GAA) that is …

Pompe disease was added to the recommended uniform screening panel to avoid
diagnostic delay and implement prompt treatment, specifically for those with infantile-onset …