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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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Bibliografiset tiedot
Julkaisussa:Int J Neonatal Screen
Päätekijät: Chiang, Shu-Chuan, Chen, Pin-Wen, Hwu, Wuh-Liang, Lee, An-Ju, Chen, Li-Chu, Lee, Ni-Chung, Chiou, Li-Yan, Chien, Yin-Hsiu
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: MDPI 2018
Aiheet:
Linkit: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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