Biochemical tests for the detection of metabolites produced in inborn errors of metabolism

Inborn errors of metabolism (IEM) are more than 550 diseases in which there is a deficiency or absence of proteins with enzymatic, transporter, receptor or structural activity. Individually these diseases are rare, but because of their wide variety they are, considered together, the largest neonatal...

Full description

Bibliographic Details
Main Authors: Mesa Herrera, Natalia Regina, Carmona Carmona, Cristian Andrés, Burgos Herrera, Luis Carlos
Format: Article
Language:Spanish
Published: Universidad de Antioquia 2014-10-01
Series:Iatreia
Subjects:
Online Access:http://aprendeenlinea.udea.edu.co/revistas/index.php/iatreia/article/view/17598/17395