Sükran Yildirim

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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 mild phenylketonuria-PKU, 7 moderate PKU) by a single oral(More)
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