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Dergiler / The Anatolian Journal of Cardiology / 2019 / Cilt: 22 - Sayı: 3

Rare presentation and wide intrafamilial variability of Fabry disease: A case report and review of the literature

Sebastian MILITARU,Robert ADAM,Lucian DOROBANTU,Paolo FERRAZZI,Maria LASCONE,Viorica RADOİ,İsmail GENER,Bogdan A POPESCU,Ruxandra JURCUT

Sayfa
154–158
DOI
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Özet

Fabry disease (FD) is an X-linked genetic disease caused by mutations in the GLA gene, which encodes α-galactosidase A, leading to an intralysosomal accumulation of globotriaosilceramide (Gb3) in a wide variety of cells.