Article
Screening for Fabry's disease in a high-risk subpopulation of FMF.
European journal of medical research - 21 Oct 2022
Maller Tomer, Ben-Zvi Ilan, Lidar Merav, Livneh Avi
Abstract excerpt
BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal recessive disease associated with mutations in the Mediterranean fever gene (MEFV) that manifests with recurrent episodes of febrile serositis. Fabry's disease (FD) is an X-linked lysosomal storage disease caused by mutations in the alpha-galactosidase A gene and presents with a wide range of gastrointestinal, skin, vascular, renal and neurological...
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