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AB172. High-throughput and cost-effective newborn screening method for female with fabry disease by DNA mass spectrometry in Taiwan

BACKGROUND: Our team has implemented a newborn screening program for fabry disease in Taiwan since 2008. However, current enzyme-based newborn screening method is not reliable to detect heterozygous female patients. Estimatedly, more than 80% of female patients are missed by this enzyme-based screen...

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Detalhes bibliográficos
Publicado no:Ann Transl Med
Main Authors: Hsieh, Yu-Ping, Gao, He-Jin, Huang, Chun-Kai, Ho, Hui-Chen, Niu, Dau-Ming
Formato: Artigo
Idioma:Inglês
Publicado em: AME Publishing Company 2015
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563502/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB172
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