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

Newborn screening (NBS) aims to diagnose patients with Pompe disease earlier so that
timely treatment can be applied. We describe the evolution of the screening methods in …

Pompe disease is an autosomal recessive neuromuscular disorder marked by progressive
muscle weakness due to lysosomal buildup of glycogen. Presentation is described as a …

Disclaimer: ACMG standards and guidelines are designed primarily as an educational
resource for physicians and other health care providers to help them provide quality medical …

BACKGROUND Pompe disease (PD) is the first lysosomal storage disorder to be added to
the Recommended Uniform Screening Panel for newborn screening. This condition has a …

Pompe disease is a metabolic myopathy with a wide spectrum of clinical presentation. The
gold-standard diagnostic test is acid alpha-glucosidase assay on skin fibroblasts, muscle or …

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 …

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

Objective To determine the outcomes of patients with later-onset Pompe disease (LOPD)
identified through newborn screening (NBS). Study design A prospective observational …

Pompe disease is an autosomal recessive disorder and is caused by a deficiency in acid
alpha-glucosidase (GAA). A broad range of studies have been performed on Pompe …