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- W1642474934 abstract "A child with phenylketonuria had normal phenylalanine hydroxylase activity in vitro. In addition, all known components of the phenylalanine hydroxylating system were within the normal range. Despite early treatment with a phenylalanine-restricted diet, the patient developed severe neurological symptoms. Although the primary molecular defect in this child is not known, there are indications that the defect lead to disturbances in phenylalanine metabolism and in the biosynthesis of L-dopa and L-5-hydroxytryptophan. The administration of these two precursors of neurotransmitters brought about a notable improvement in the patient's neurological symptoms." @default.
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- W1642474934 date "1977-05-01" @default.
- W1642474934 modified "2023-10-14" @default.
- W1642474934 title "Atypical Phenylketonuria With Normal Phenylalanine Hydroxylase and Dihydropteridine Reductase Activity in Vitro" @default.
- W1642474934 doi "https://doi.org/10.1542/peds.59.5.757" @default.
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