Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report

<p>Abstract</p> <p>Background</p> <p>The co-existence of two genetically distinct metabolic disorders in the same patient has rarely been reported. Phenylketonuria (PKU) is an inborn error of the metabolism resulting from a phenylalanine hydroxylase deficiency. Fabry di...

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Bibliographic Details
Main Authors: Bonapace Giuseppe, Moricca Maria T, Pascale Maria G, Sestito Simona, Disabella Eliana, Rapsomaniki Maria, Concolino Daniela, Arbustini Elisea, Strisciuglio Pietro
Format: Article
Language:English
Published: BMC 2010-05-01
Series:BMC Pediatrics
Online Access:http://www.biomedcentral.com/1471-2431/10/32