Clinical findings and mutational spectrum in Venezuelan patients with delayed diagnosis of phenylketonuria

Article

Abstract: Introduction. Massive neonatal screening for phenylketonuria (PKU) began in developed countries in 1

Palabras claves:

Delayed diagnosis, Genotype/phenotype, Neonatal study, PKU, Psychomotor retardation

Autores:

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:

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