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Article

Mutation analysis anticipates dietary requirements in phenylketonuria.

European journal of pediatrics - 1 Oct 2000

Güttler F, Guldberg P

Abstract excerpt

UNLABELLED: Phenylalanine hydroxylase (PAH) deficiency is inherited as an autosomal recessive trait and the associated hyperphenylalaninaemia phenotype is highly variable, primarily due to a great allelic heterogeneity at the PAH locus (approximately 400 disease-associated mutations are known). The arbitrary classification of PAH deficiency on the basis of clinical parameters has been complicated by the lack of...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11043162
DOI: 10.1007/pl00014381

Genes

PAH

Provenance

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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