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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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Bibliografiske detaljer
Udgivet i:JIMD Rep
Main Authors: Ohlsson, Annika, Bruhn, Helene, Nordenström, Anna, Zetterström, Rolf H., Wedell, Anna, von Döbeln, Ulrika
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2016
Fag:
Online adgang: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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