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The prevalence of Fabry disease in a Turkish population with chronic kidney patients.

International urology and nephrology - 1 Jun 2023

Tomar Özdem Kavraz, Bal Ayşe Zeynep, Şirali Semahat Karahisar, Duranay Murat, Korucu Berfu, Güz Galip, Akdağ Seyit İbrahim

Abstract excerpt

BACKGROUND AND OBJECTIVES: Fabry disease (FD) is an X-linked lysosomal storage disease with various clinical symptoms due to a deficiency of an enzyme called alpha-galactosidase A. The likelihood of nephropathy increases with age and the severity of the mutation in Fabry patients. Fabry disease is difficult to diagnose. The exact incidence and prevalence of Fabry disease are unknown due to its atypical or...

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PMID: 36725792
DOI: 10.1007/s11255-023-03488-2

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