Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease

Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease

Early diagnosis of lysosomal storage diseases (LSDs) through newborn screening (NBS) has been adapted widely. The National Taiwan University Hospital Newborn Screening Center launched the four-plex tandem mass spectrometry LSD newborn screening test in 2015. The test determined activities of acid &a...

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Bibliographic Details
Main Authors: Shu-Chuan Chiang, Pin-Wen Chen, Wuh-Liang Hwu, An-Ju Lee, Li-Chu Chen, Ni-Chung Lee, Li-Yan Chiou, Yin-Hsiu Chien
Format: Article
Language:English
Published: MDPI AG 2018-12-01
Series:International Journal of Neonatal Screening
Subjects:
Pompe newborn screening
tandem mass spectrometry
Gaucher newborn screening
Fabry newborn screening
accuracy
Online Access:https://www.mdpi.com/2409-515X/4/4/41

Internet

https://www.mdpi.com/2409-515X/4/4/41

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