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Clinical findings and mutational spectrum in Venezuelan patients with delayed diagnosis of phenylketonuria
ArticleAbstract: Introduction. Massive neonatal screening for phenylketonuria (PKU) began in developed countries in 1Palabras claves:Delayed diagnosis, Genotype/phenotype, Neonatal study, PKU, Psychomotor retardationAutores:Araujo K., Arias I., Bottaro M., Casique L., Colmenares A.R., Domínguez C.L., López M.E., M. De Lucca, Mahfoud A., Marisel De Lucca, Merzon R.M., Rodríguez T.Fuentes:googlescopusMolecular basis of phenylketonuria in Venezuela: Presence of two novel null mutations
ArticleAbstract: This report describes the mutational spectrum and linked haplotypes of the phenylalanine hydroxylasePalabras claves:Expression analysis, mutation, PKUAutores:Desviat L.R., M. De Lucca, Perez B., Ugarte M.Fuentes:scopus