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The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965–2014
Newborn screening (NBS) for phenylketonuria (PKU) which has a continuum of disease severities has been performed for more than 50 years. The screening method has undergone a continuous development with not only improvements of the positive predictive value but also identification of milder forms of...
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| 發表在: | JIMD Rep |
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| Main Authors: | , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Springer Berlin Heidelberg
2016
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5509542/ https://ncbi.nlm.nih.gov/pubmed/27469133 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_4 |
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