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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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| Publicado no: | Ann Transl Med |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
AME Publishing Company
2017
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| Assuntos: | |
| Acesso em linha: | 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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