Article
[Clinical findings and mutational spectrum in Venezuelan patients with delayed diagnosis of phenylketonuria].
Revista de neurologia - 1 Jan 2000
Mahfoud A, de Lucca M, Domínguez C L, Arias I, Casique L, Araujo K, Rodríguez T, Bottaro M, Colmenares A R, López M E, Merzon R M
Abstract excerpt
INTRODUCTION: Massive neonatal screening for phenylketonuria (PKU) began in developed countries in 1963, and eventually disappeared as a cause of mental retardation. Yet, this is not the case in most developing countries. AIM: To describe the phenotype and the genotype of PKU patients with a delayed diagnosis in order to draw attention to the importance of neonatal studies and molecular diagnosis. PATIENTS AND...
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