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Article

Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.

Journal of medical genetics - 1 Mar 2015

Danecka Marta K, Woidy Mathias, Zschocke Johannes, Feillet François, Muntau Ania C, Gersting Søren W

Abstract excerpt

BACKGROUND: In phenylketonuria, genetic heterogeneity, frequent compound heterozygosity, and the lack of functional data for phenylalanine hydroxylase genotypes hamper reliable phenotype prediction and individualised treatment. METHODS: A literature search revealed 690 different phenylalanine hydroxylase genotypes in 3066 phenylketonuria patients from Europe and the Middle East. We determined phenylalanine...

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Identifiers

PMID: 25596310
DOI: 10.1136/jmedgenet-2014-102621

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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