Article
Fabry disease in familial Mediterranean fever according to the severity of the disease.
Reumatologia clinica - 1 Nov 2024
Uslu Sadettin, Kabadayi Gökhan, Teke Kısa Pelin, Yüce Inel Tuba, Arslan Zümrüt, Arslan Nur, Akar Servet, Onen Fatos, Sari Ismail
Abstract excerpt
OBJECTIVES: Mutations in the α-galactosidase A (GLA) gene result in Fabry disease (FD), a rare metabolic condition. FD patients present with heterogeneous clinical manifestations, which may overlap with systemic diseases including familial Mediterranean fever (FMF). The aim of this study was to determine the frequency of FD in patients with mild and severe FMF and to prevent misdiagnosis by increasing clinicians'...
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