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Article

BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor.

Clinica chimica acta; international journal of clinical chemistry - 1 May 2007

Aguado Cristina, Pérez Belen, García M José, Bélanger-Quintana Amaya, Martínez-Pardo Mercedes, Ugarte Magdalena, Desviat Lourdes R

Abstract excerpt

BACKGROUND: Tetrahydrobiopterin (BH4), cofactor of phenylalanine hydroxylase, can be used to treat a subset of phenylketonuria (PKU) patients as it results in a reduction in blood phenylalanine levels. The molecular basis of the response appears to be multifactorial. METHOD: A standard BH4 loading test (20 mg/kg) was performed. Genotyping was performed by DGGE and sequencing analysis. Expression analysis of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17408607
DOI: 10.1016/j.cca.2007.02.034

Genes

MBP
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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