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 HPA, 9 m...

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Veröffentlicht in:	Turkish journal of pediatrics 2007-01, Vol.49 (1), p.1-6
Hauptverfasser:	Yildirim, Sükran, Tokatli, Ayşegül, Yilmaz, Engin, Coşkun, Turgay
Format:	Artikel
Sprache:	eng
Schlagworte:	Biopterins - analogs & derivatives Biopterins - therapeutic use Child Child, Preschool Female Hospitals, Pediatric Humans Male Phenylketonurias - blood Phenylketonurias - drug therapy Phenylketonurias - genetics Turkey
Online-Zugang:	Volltext
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