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Article

Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway.

European journal of pediatrics - 1 Jul 1996

Eiken H G, Knappskog P M, Motzfeldt K, Boman H, Apold J

Abstract excerpt

UNLABELLED: In order to establish a genotype-phenotype relationship, we have identified both mutant phenylalanine hydroxylase (PAH) genes in 108 phenylketonuria (PKU) patients (27 different alleles, 54 different genotypes). One major group of patients with very high pretreatment phenylalanine val...

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Source

Identifiers

PMID: 8831077
DOI: 10.1007/BF01957904

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-8831077-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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