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

OBJECTIVE: To characterize the natural progression of infantile-onset Pompe disease.
STUDY DESIGN: Retrospective chart reviews of 168 patients with documented acid α …

After a Pompe disease diagnosis is confirmed in infants identified through newborn
screening (NBS), when and if to start treatment with enzyme replacement therapy (ERT) with …

Objective To evaluate whether very early treatment in our patients would result in better
clinical outcomes and to compare these data with other infantile-onset Pompe disease …

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 …

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

BACKGROUND. Pompe disease is a lysosomal storage disorder that leads to the
accumulation of glycogen and subsequently to muscle weakness, organ damage, and …

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 …

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) …

Objective To determine the benefit of newborn screening for the long-term prognosis of
patients with classic infantile-onset Pompe disease (IOPD). Study design A cohort of patients …