Phenylketonuria of late diagnosis and associated mutations in an Ecuadorian family

Article

Abstract: Phenylketonuria is an inborn error of metabolism due to mutations on the phenylalanine hydroxylase g

Palabras claves:

Mutation R252W, Phenylalanine hydroxylase, Phenylketonuria, Physical Therapy

Autores:

Carmen Barba-Guzmán, M. De Lucca, María Augusta Latta, Marisel De Lucca, Verónica De Los Ángeles Cobo Sevilla

Fuentes:

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