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. 1973 Feb;70(2):552–556. doi: 10.1073/pnas.70.2.552

Detection of Hepatic Phenylalanine 4-Hydroxylase in Classical Phenylketonuria

Paul A Friedman 1, Daniel B Fisher 1, Ellen S Kang 1,*, Seymour Kaufman 1
PMCID: PMC433304  PMID: 4405625

Abstract

An extract from a liver biopsy of a patient with classical phenylketonuria contains phenylalanine 4-hydroxylase (EC 1.14.3.1) with a specific activity 0.27% of the normal activity of the hydroxylase. This enzyme from a patient with phenylketonuria is a structurally altered form of phenylalanine 4-hydroxylase that probably results from a mutation in the gene coding for the hydroxylase.

Keywords: genetic disease, tetrahydrobiopterin, lysolecithin

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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