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- W2331750713 abstract "The phenylalanine hydroxylating system and its related disorders have been intensely investigated during the past decade. This article discusses on some of the newer developments in the study of the physiology and pathophysiology of human phenylalanine metabolism: 1) the phenylalanine hydroxylating system, 2) the early diagnosis of hyperphenylalaninemia syndromes, 3) the molecular basis for phenotypic heterogeneity of phenylketonuria, 4) the prenatal diagnosis of phenylketonuria, and 5) hyperphenylalaninemia caused by defects in tetrahydrobiopterin metabolism." @default.
- W2331750713 created "2016-06-24" @default.
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- W2331750713 date "1988-01-01" @default.
- W2331750713 modified "2023-10-03" @default.
- W2331750713 title "Hyperphenylalaninemia syndromes: Current status of diagnosis and management." @default.
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- W2331750713 doi "https://doi.org/10.2302/kjm.37.1" @default.
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