Assessment of tetrahydrobiopterin responsiveness in Turkish hyperphenylalaninemic patients

Tetrahydrobiopterin (BH4) therapy is the latest alternative approach in phenylalanine hydroxylase (PAH) deficiency, and is suggested for a number of hyperphenylalaninemic (HPA) patients with certain mutations. In our unit, therapeutic efficacy of BH4 was evaluated in 20 HPA patients (4 mild H...

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Bibliographic Details
Main Authors: Sükran Yildirim, Ayşegül Tokatli, Engin Yilmaz, Turgay Coşkun
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2007-01-01
Series:The Turkish Journal of Pediatrics
Online Access:https://turkjpediatr.org/article/view/2502
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