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Article

Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients.

European journal of pediatrics - 1 Feb 1993

Svensson E, von Döbeln U, Eisensmith R C, Hagenfeldt L, Woo S L

Abstract excerpt

Phenylketonuria (PKU) and hyperphenylalaninemia (HPA) are caused mostly by an inherited (autosomal recessive) deficiency in hepatic phenylalanine hydroxylase (PAH) activity. More than 50 PAH mutations have ben reported. The goal of the present study was to examine the molecular basis for the clinical heterogeneity of Swedish PKU and HPA patients. Mutations were identified through allele-specific oligonucleotide...

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Identifiers

PMID: 8444221
DOI: 10.1007/BF02072490

Genes

PAH

Variants

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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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