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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 α-...

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Dettagli Bibliografici
Pubblicato in:Int J Neonatal Screen
Autori principali: Chiang, Shu-Chuan, Chen, Pin-Wen, Hwu, Wuh-Liang, Lee, An-Ju, Chen, Li-Chu, Lee, Ni-Chung, Chiou, Li-Yan, Chien, Yin-Hsiu
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2018
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7548889/
https://ncbi.nlm.nih.gov/pubmed/33072961
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns4040041
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