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...
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 |
Similar Items
-
CO-EXISTENCE OF PHENYLKETONURIA AND FABRY DISEASE ON A 3-YEAR-OLD BOY: CASE REPORT
by: Daniela Concolino, et al.
Published: (2010-06-01) -
New Strategies for the Treatment of Phenylketonuria (PKU)
by: Pietro Strisciuglio, et al.
Published: (2014-11-01) -
Gastrointestinal Symptoms of Patients with Fabry Disease
by: Licia Pensabene, et al.
Published: (2016-01-01) -
Glycosaminoglycans and Fabry's disease
by: E. Zinellu, et al.
Published: (2010-01-01) -
Large Neutral Amino Acids (LNAAs) Supplementation Improves Neuropsychological Performances in Adult Patients with Phenylketonuria
by: Iris Scala, et al.
Published: (2020-04-01)