Article
Individual blood-brain barrier phenylalanine transport determines clinical outcome in phenylketonuria.
Annals of neurology - 1 Oct 2001
Weglage J, Wiedermann D, Denecke J, Feldmann R, Koch H G, Ullrich K, Harms E, Möller H E
Abstract excerpt
Different clinical outcomes in spite of comparable dietary controls are well known in patients with phenylketonuria. Currently, reasons for this phenomenon are unknown. Kinetic investigations in 15 patients with classic phenylketonuria were performed using in vivo nuclear magnetic resonance spectroscopy before and after an oral phenylalanine load (100 mg/kg body weight). Patients' brain phenylalanine...
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