Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.

doi:10.1038/jhg.2016.38

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Article

Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.

Journal of human genetics - 1 Aug 2016

Aldámiz-Echevarría Luis, Llarena Marta, Bueno María A, Dalmau Jaime, Vitoria Isidro, Fernández-Marmiesse Ana, Andrade Fernando, Blasco Javier, Alcalde Carlos, Gil David, García María C, González-Lamuño Domingo, Ruiz Mónica, Ruiz María A, Peña-Quintana Luis, González David, Sánchez-Valverde Felix, Desviat Lourdes R, Pérez Belen, Couce María L

Abstract excerpt

Phenylketonuria (PKU), the most common inborn error of amino acid metabolism, is caused by mutations in the phenylalanine-4-hydroxylase (PAH) gene. This study aimed to assess the genotype-phenotype correlation in the PKU Spanish population and the usefulness in establishing genotype-based predictions of BH4 responsiveness in our population. It involved the molecular characterization of 411 Spanish PKU patients:...

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PMID: 27121329
DOI: 10.1038/jhg.2016.38

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