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Article

Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.

Journal of human genetics - 1 May 2013

Bueno María A, González-Lamuño Domingo, Delgado-Pecellín Carmen, Aldámiz-Echevarría Luís, Pérez Belén, Desviat Lourdes R, Couce María L

Abstract excerpt

The aim of this study was to identify the most common genotypes in the phenylketonuria (PKU) population of Andalusia, assessing the correlation with the phenotype and the usefulness in predicting the response to treatment with tetrahydrobiopterin. We conducted a retrospective observational study between January 1980 and January 2010 in 147 Andalusian PKU patients assessing phenotype, genotype and response to a...

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PMID: 23514811
DOI: 10.1038/jhg.2013.16

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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