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

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

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...

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Bibliographic Details
Main Authors: M. Christine Dorley, George J. Dizikes, Charles Austin Pickens, Carla Cuthbert, Khaja Basheeruddin, Fizza Gulamali-Majid, Paul Hetterich, Amy Hietala, Ashley Kelsey, Tracy Klug, Barbara Lesko, Michelle Mills, Shawn Moloney, Partha Neogi, Joseph Orsini, Douglas Singer, Konstantinos Petritis
Format: Article
Language:English
Published: MDPI AG 2023-02-01
Series:International Journal of Neonatal Screening
Subjects:
harmonization
pompe
MPS I
newborn screening
digital microfluidics
tandem mass spectrometry
Online Access:https://www.mdpi.com/2409-515X/9/1/11

Internet

https://www.mdpi.com/2409-515X/9/1/11

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