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 …

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

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

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 …

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 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 …

Purpose: To review the narratives that detailed the most important features of Infantile Onset
Pompe disease (IOPD) from the physician's perspective, submitted as part of a large …

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 …

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 …

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