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

Newborn screening (NBS) for Pompe disease (PD) was added to the Recommended
Uniform Screening Panel (RUSP) in the United States in 2015 because there was …

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 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 …

FUNDING: Sanofi Genzyme (Cambridge, MA) facilitated and provided financial support for
the meeting of the Pompe Disease Newborn Screening Working Group to discuss 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 …

Objective Enzyme replacement therapy (ERT), the only approved therapy for infantile-onset
Pompe disease (IOPD), had heterogeneous clinical effects due to factors such as severity …

Background Early diagnosis is of substantial benefit for patients with Pompe disease. Yet
underdiagnosing and substantial diagnostic delay are still frequent and the determinants of …

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 …