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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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Main Authors: | , , , , , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Springer Berlin Heidelberg
2013
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Assuntos: | |
Acesso em linha: | 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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