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Article

Phenylketonuria and its variants.

Annals of clinical and laboratory science - 1 Jan 2000

Kaufman S, Milstien S

Abstract excerpt

The hepatic phenylalanine hydroxylase system is complex, consisting of at least two enzymes and two non-protein cofactors. In classical phenylketonuria (PKU) the affect component has been shown to be the enzyme, phenylalanine hydroxylase. Recently, several variant forms of PKU have been identified which are due to deficiencies of two of the other components of the hydroxylase system, dihydropteridine reductase...

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PMID: 557947

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