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[Genotyping and treatment modification in patients with phenylketonuria: an introduction to pharmacogenomics].

Przeglad lekarski - 1 Jan 2009

Bik-Multanowski Mirosław, Pietrzyk Jacek J

Abstract excerpt

INTRODUCTION: Phenylketonuria is the most common inborn error of metabolism. The disease is caused by mutations of the phenylalanine hydroxylase gene, decreasing or completely abolishing the activity of the encoded enzyme. Treatment consists in maintaining low blood phenylalanine concentration. U...

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PMID: 19485247

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19485247-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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