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

• Main Authors: Shu-Chuan Chiang (Author), Pin-Wen Chen (Author), Wuh-Liang Hwu (Author), An-Ju Lee (Author), Li-Chu Chen (Author), Ni-Chung Lee (Author), Li-Yan Chiou (Author), Yin-Hsiu Chien (Author)
• Format: Book
• Published: MDPI AG, 2018-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...