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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Detalles Bibliográficos
Autores principales: Chiang, Shu-Chuan, Chen, Pin-Wen, Hwu, Wuh-Liang, Lee, An-Ju, Chen, Li-Chu, Lee, Ni-Chung, Chiou, Li-Yan, Chien, Yin-Hsiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7548889/
https://www.ncbi.nlm.nih.gov/pubmed/33072961
http://dx.doi.org/10.3390/ijns4040041

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7548889/
https://www.ncbi.nlm.nih.gov/pubmed/33072961
http://dx.doi.org/10.3390/ijns4040041

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