Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease

BACKGROUND: Anderson-Fabry disease (AFD) is an inborn lysosomal enzymopathy resulting from the deficient or absent activity of the lysosomal exogalactohydrolase, α-galactosidase A. This deficiency, results in the altered metabolism of glycosphingolipids which leads to their accumulation in lysosomes...

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Vydáno v:Oncotarget
Hlavní autoři: Tuttolomondo, Antonino, Simonetta, Irene, Duro, Giovanni, Pecoraro, Rosaria, Miceli, Salvatore, Colomba, Paolo, Zizzo, Carmela, Nucera, Antonia, Daidone, Mario, Di Chiara, Tiziana, Scaglione, Rosario, Della Corte, Vittoriano, Corpora, Francesca, Vogiatzis, Danai, Pinto, Antonio
Médium: Artigo
Jazyk:Inglês
Vydáno: Impact Journals LLC 2017
Témata:
Research Paper
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5617434/
https://ncbi.nlm.nih.gov/pubmed/28977874
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18632/oncotarget.18250
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