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Article

Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness.

Acta biochimica Polonica - 1 Jan 2013

Bik-Multanowski Miroslaw, Kaluzny Lukasz, Mozrzymas Renata, Oltarzewski Mariusz, Starostecka Ewa, Lange Agata, Didycz Bozena, Gizewska Maria, Ulewicz-Filipowicz Jolanta, Chrobot Agnieszka, Mikoluc Bozena, Szymczakiewicz-Multanowska Agnieszka, Cichy Wojciech, Pietrzyk Jacek J

Abstract excerpt

Tetrahydrobiopterin (BH4) has been recently approved as a treatment of patients with phenylketonuria. However, as a confirmation of BH4-responsiveness, it might require a very expensive trial treatment with BH4 or prolonged BH4-loading procedures. The selection of patients eligible for BH4-therapy by means of genotyping of the PAH gene mutations may be recommended as a complementary approach. A population-wide...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24350308

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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