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Article

Genotype-phenotype correlations in phenylketonuria.

Clinica chimica acta; international journal of clinical chemistry - 30 Jul 1993

Trefz F K, Burgard P, König T, Goebel-Schreiner B, Lichter-Konecki U, Konecki D, Schmidt E, Schmidt H, Bickel H

Abstract excerpt

Genotyping of the phenylalanine hydroxylating system offers a new way of characterizing patients with phenylalanine hydroxylase (PAH) deficiency. This paper investigates the power of genotyping as a parameter for differential diagnosis and as a measure of the risk factor of brain damage in well-treated patients with phenylketonuria (PKU). Thirty-three PKU patients were followed up over 9 years and the quality of...

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Source

Identifiers

PMID: 8222278
DOI: 10.1016/0009-8981(93)90233-t

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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