Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria

BACKGROUND: A need exists to expand the characterization of tetrahydrobiopterin (BH(4)) responsiveness in patients with phenylketonuria (PKU), beyond simply evaluating change in blood phenylalanine concentrations. The clinical interpretation of BH(4) responsiveness should be evaluated within the con...

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Hlavní autoři: Quirk, Meghan E., Dobrowolski, Steven F., Nelson, Benjamin E., Coffee, Bradford, Singh, Rani H.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4029439/
https://ncbi.nlm.nih.gov/pubmed/22841515
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2012.07.008
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