Article
Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population.
European journal of human genetics : EJHG - 1 Jan 2000
Desviat L R, Pérez B, García M J, Martínez-Pardo M, Baldellou A, Arena J, Sanjurjo P, Campistol J, Couce M L, Fernández A, Cardesa J, Ugarte M
Abstract excerpt
Genotyping of the phenylalanine hydroxylase (PAH) gene offers a new tool for characterizing patients with phenylketonuria (PKU), refining the diagnosis and aiding in the prediction of the clinical outcome and in the implementation of a more adequate treatment. The primary goal of this work was the detailed study of the different allele combinations and the metabolic phenotypes in Spanish PKU patients in order to...
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