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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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| Udgivet i: | Ann Transl Med |
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| Main Authors: | , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
AME Publishing Company
2015
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| Fag: | |
| Online adgang: | 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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