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Article

Mouse models of human phenylketonuria.

Genetics - 1 Aug 1993

Shedlovsky A, McDonald J D, Symula D, Dove W F

Abstract excerpt

Phenylketonuria (PKU) results from a deficiency in phenylalanine hydroxylase, the enzyme catalyzing the conversion of phenylalanine (PHE) to tyrosine. Although this inborn error of metabolism was among the first in humans to be understood biochemically and genetically, little is known of the mechanism(s) involved in the pathology of PKU. We have combined mouse germline mutagenesis with screens for...

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Identifiers

PMID: 8375656
DOI: 10.1093/genetics/134.4.1205
PMCID: PMC1205587

Genes

PAH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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