AB101. Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry

BACKGROUND: Until July 2016, more than 916,000 newborns have been screened for Fabry disease by our team. From our estimation, around 80% female newborns will be missed by our current enzyme-based screening. However, female carriers of Fabry disease may still develop severe morbidity and mortality,...

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Udgivet i:Ann Transl Med
Main Authors: Lu, Yung-Hsiu, Huang, Po-Hsun, Wang, Li-Yun, Hsu, Ting-Rong, Li, Hsing-Yuan, Hsieh, Yu-Ping, Hung, Sheng-Che, Niu, Dau-Ming
Format: Artigo
Sprog:Inglês
Udgivet: AME Publishing Company 2017
Fag:
Newborn Screening, Inborn Errors of Metabolism
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5641773/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s101
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