載入...

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...

全面介紹

Na minha lista:
書目詳細資料
發表在:JIMD Rep
Main Authors: Ohlsson, Annika, Bruhn, Helene, Nordenström, Anna, Zetterström, Rolf H., Wedell, Anna, von Döbeln, Ulrika
格式: Artigo
語言:Inglês
出版: Springer Berlin Heidelberg 2016
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
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!