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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 clin...

Topics

Base Sequence
Child, Preschool
DNA Mutational Analysis
Gene Expression
Genotype
Haplotypes
Humans
Molecular Sequence Data
Mutation
Phenotype
Phenylalanine
Phenylalanine Hydroxylase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenylketonurias

Sweden

Source

Identifiers

PMID: 8444221
DOI: 10.1007/BF02072490

Genes

PAH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8444221-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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