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1997•Pediatric ResearchOpen access

Analysis of Phenylalanine Hydroxylase Genotypes and Hyperphenylalaninemia Phenotypes Using L-[1-13C]Phenylalanine Oxidation Rates in Vivo: A Pilot Study1

Eileen P. Treacy, Jacques Delente, Gay Elkas, Kevin Carter, Marie Lambert, Paula J. Waters, Charles R. Scriver

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Key concepts: Hyperphenylalaninemia, Phenylalanine hydroxylase, Phenylalanine, Phenylketonurias, In vivo, Heterozygote advantage, Chemistry, Phenotype

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Analysis of Phenylalanine Hydroxylase Genotypes and Hyperphenylalaninemia Phenotypes Using L-[1-13C]Phenylalanine Oxidation Rates in Vivo: A Pilot Study1 — Research Paper | ScholarLens