Article
Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria.
Journal of inherited metabolic disease - 1 Oct 2002
Weglage J, Wiedermann D, Denecke J, Feldmann R, Koch H G, Ullrich K, Möller H E
Abstract excerpt
Recent studies indicate that individual blood-brain transport characteristics of phenylalanine may lead to different clinical outcomes in phenylketonuria (PKU) patients in spite of comparable dietary control. To check these preliminary data, we investigated four pairs of siblings with classical PKU (and identical genotype) using in vivo nuclear magnetic resonance spectroscopy in the course of an oral...
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