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 &#...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	Shu-Chuan Chiang, Pin-Wen Chen, Wuh-Liang Hwu, An-Ju Lee, Li-Chu Chen, Ni-Chung Lee, Li-Yan Chiou, Yin-Hsiu Chien
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	MDPI AG 2018-12-01
Σειρά:	International Journal of Neonatal Screening
Θέματα:	Pompe newborn screening tandem mass spectrometry Gaucher newborn screening Fabry newborn screening accuracy
Διαθέσιμο Online:	https://www.mdpi.com/2409-515X/4/4/41
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