Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study

Objective: Identifying phenylalanine hydroxylase (PAH) mutations associated with sapropterin response in phenylketonuria (PKU) would be an advantageous means to determine clinical benefit to sapropterin therapy. Methods: Sapropterin response, defined as a ≥30 % reduction in phenylalanine (Phe) level...

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Autores principales: Leuders, Sarah, Wolfgart, Eva, Ott, Torsten, du Moulin, Marcel, van Teeffelen-Heithoff, Agnes, Vogelpohl, Lydia, Och, Ulrike, Marquardt, Thorsten, Weglage, Josef, Feldmann, Reinhold, Rutsch, Frank
Formato: Artigo
Lenguaje:Inglês
Publicado: Springer Berlin Heidelberg 2013
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4110336/
https://ncbi.nlm.nih.gov/pubmed/24190797
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2013_263
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