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

BACKGROUND: 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 disease (FD) is an X-linked lysosomal storage disorder du...

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Hlavní autoři: Concolino, Daniela, Rapsomaniki, Maria, Disabella, Eliana, Sestito, Simona, Pascale, Maria G, Moricca, Maria T, Bonapace, Giuseppe, Arbustini, Elisea, Strisciuglio, Pietro
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2010
Témata:
Case report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2885380/
https://ncbi.nlm.nih.gov/pubmed/20478016
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2431-10-32
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