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 …

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 causes progressive, debilitating, and often life-threatening
musculoskeletal, respiratory, and cardiac symptoms. Favorable outcomes with early …

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 …

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 …

OBJECTIVE: To determine whether newborn screening facilitates early detection and
thereby early treatment initiation for later-onset Pompe disease. STUDY DESIGN: We have …

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 an autosomal recessive disorder of glycogen metabolism caused by a
deficiency of the lysosomal enzyme acid α-glucosidase (GAA). It presents at any age, with …

Background: Pompe disease is an autosomal recessive disorder of glycogen metabolism
that is characterized by a deficiency of the lysosomal acid α-glucosidase. Enzyme …

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) …