Trastornos neurológicos a consecuencia de la mutación del gen que codifica para fenilalanina hidroxilas

Introduction: Phenylketonuria (PKU) is an error of the metabolism of the amino acids due to the gene mutation that codifies for the enzyme called phenylalanine hydroxylase (PAH). 564 cases of mutations in different exons have been reported. It has an autosomal recessive inheritance pattern and ge...

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Bibliographic Details
Main Authors: Alvear-Sedán Ciro, Barboza-Ubarnes Miriam, Stave-Salgado Karen
Format: Article
Language:Spanish
Published: Universidad de Cartagena 2013-12-01
Series:Revista Ciencias Biomédicas
Subjects:
Online Access:http://revistacienciasbiomedicas.com/index.php/revciencbiomed/article/view/297/240