Management of Confirmed Newborn-Screened Patients with Pompe Disease Across the Disease Spectrum

The Pompe Disease Newborn Screening Working Group identified key considerations before starting and during ERT; summarized what comprises an indication to start ERT; and provided guidance on how to determine appropriate patient management and monitoring and guide the frequency and type of follow-up assessments for all patients identified with Pompe through newborn screening. This publication is closed access. To view the abstract, click here.