Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I

• Main Authors: M. Christine Dorley (Author), George J. Dizikes (Author), Charles Austin Pickens (Author), Carla Cuthbert (Author), Khaja Basheeruddin (Author), Fizza Gulamali-Majid (Author), Paul Hetterich (Author), Amy Hietala (Author), Ashley Kelsey (Author), Tracy Klug (Author), Barbara Lesko (Author), Michelle Mills (Author), Shawn Moloney (Author), Partha Neogi (Author), Joseph Orsini (Author), Douglas Singer (Author), Konstantinos Petritis (Author)
• Format: Book
• Published: MDPI AG, 2023-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

In newborn screening, false-negative results can be disastrous, leading to disability and death, while false-positive results contribute to parental anxiety and unnecessary follow-ups. Cutoffs are set conservatively to prevent missed cases for Pompe and MPS I, resulting in increased falsepositive re...