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- W2000909368 abstract "Phenylketonuria is a disease still in search of a cause for the mental defect that occurs in the majority of cases. Perry and his colleagues begin their article in this issue of the Journal with a terse, articulate review of the most popular proposals that have been advanced to explain phenylketonuric mental retardation; they end by nominating chronic glutamine insufficiency as an important contender for the pathogenesis of the brain damage. Their argument is compelling, and the evidence is carefully documented. Untreated phenylketonuric patients are retarded and have hyperphenylalaninemia; patients successfully treated with low phenylalanine diets have normal plasma levels . . ." @default.
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- W2000909368 date "1970-04-02" @default.
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- W2000909368 title "Phenylketonuria: The Glutamine Hypothesis" @default.
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- W2000909368 doi "https://doi.org/10.1056/nejm197004022821415" @default.
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