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Article

Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome.

Pediatrics - 1 Dec 2003

Güttler Flemming, Azen Colleen, Guldberg Per, Romstad Anne, Hanley William B, Levy Harvey L, Matalon Reuben, Rouse Bobbye M, Trefz Friedrich, de la Cruz Felix, Koch Richard

Abstract excerpt

OBJECTIVE: The aim of the present study was to examine to what extent maternal and offspring phenylalanine hydroxylase (PAH) genotypes in conjunction with maternal IQ and dietary control during pregnancy are related to cognitive development in offspring of women with phenylketonuria (PKU). METHODS: PAH gene mutations were determined in 196 maternal PKU subjects and their offspring. The women were grouped...

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Identifiers

PMID: 14654659

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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