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

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 …

Clinically, Pompe disease encompasses a range of phenotypes. Infantile-onset Pompe
disease is uniformly lethal. Affected infants present in the first few months of life with …

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 …

Pompe disease is a rare neuromuscular disorder caused by deficiency of acid α-
glucosidase. Treatment with recombinant human α-glucosidase recently received marketing …

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

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

Pompe disease is an autosomal recessive, progressive, debilitating, and often fatal
neuromuscular disorder caused by deficiency of lysosomal acid α-glucosidase (GAA). It is …

BACKGROUND: Pompe disease presents with a wide variety of phenotypes ranging from a
fatal disease in infancy (the infantile-onset form) to other milder later-onset forms. Currently …

Diagnostic delays in Pompe disease are common. The diagnostic gap (the time from the
onset of symptoms to the diagnosis of Pompe disease) and factors associated with …