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Using change in plasma phenylalanine concentrations and ability to liberalize diet to classify responsiveness to tetrahydrobiopterin therapy in patients with phenylketonuria

Tetrahydrobiopterin (BH(4)) responsiveness is currently defined as a decrease in plasma phenylalanine concentrations in patients with phenylketonuria (PKU). This definition does not offer insight beyond the initial assessment of patients, which may lead to treatment ambiguity in patients who only ex...

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Autori principali: Singh, Rani H., Quirk, Meghan E.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2011
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4029441/
https://ncbi.nlm.nih.gov/pubmed/21986447
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2011.09.009
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