Article
Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria.
Pediatrics - 1 Dec 2003
Trefz Friedrich K, Blau Nenad
Abstract excerpt
OBJECTIVE: To evaluate the clinical relevance of tetrahydrobiopterin (BH4) supplementation for pregnant women with phenylketonuria (PKU)/hyperphenylalaninemia (HPA) and the possibility of treating these patients with BH4 instead of a phenylalanine (Phe)-restricted diet. METHODS: Genotyping was performed on 41 patients with PKU/HPA identified by newborn screening. Evaluating the genotype according to their BH4...
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