Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen

Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen

Pennsylvania started newborn screening for Pompe disease (PD) in 2016. As a result, the prevalence of PD has increased with early detection, primarily of late-onset Pompe disease (LOPD). No clear guidelines exist regarding if and when to initiate enzyme replacement therapy (ERT) in patients identifi...

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Bibliographic Details
Main Authors: Hayley A. Ron, Owen Kane, Rose Guo, Caitlin Menello, Nicole Engelhardt, Shaney Pressley, Brenda DiBoscio, Madeline Steffensen, Sanmati Cuddapah, Kim Ng, Can Ficicioglu, Rebecca C. Ahrens-Nicklas
Format: Article
Language:English
Published: MDPI AG 2025-02-01
Series:International Journal of Neonatal Screening
Subjects:
Pompe disease
late-onset Pompe disease
infantile-onset Pompe disease
newborn screen
enzyme replacement therapy
alglucosidase alfa
Online Access:https://www.mdpi.com/2409-515X/11/1/16
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