Article
Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease.
Clinical genetics - 1 Jun 2013
Zizzo C, Colomba P, Albeggiani G, Gallizzi R, Iemolo F, Nuzzo D, Vasto S, Caruso C, Duro G
Abstract excerpt
Fabry disease (FD) is an underdiagnosed pathology due to its symptomatology that overlaps with various systemic and rheumatic disorders, including familial Mediterranean fever (FMF). We examined the Mediterranean fever (MEFV) and α-galactosidase A (GLA) genes, whose mutations are responsible for FMF and FD, respectively, in 42 unrelated patients diagnosed with FMF, which revealed significant ambiguity regarding...
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