Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis

Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis

Fabry Disease (FD), a rare and progressive, X-linked lysosomal storage disorder, is caused by mutations in the α-galactosidase A (GLA) gene which leads to enzymatic deficiency of GLA. Misdiagnosed and undiagnosed FD cases are common for the variable FD phenotype, ranging from asymptomatic and/or imp...

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Bibliographic Details
Main Authors: Yuri Battaglia, Fulvio Fiorini, Cristiano Azzini, Pasquale Esposito, Alessandro De vito, Antonio Granata, Alda Storari, Renzo Mignani
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-02-01
Series:Frontiers in Medicine
Subjects:
Fabry disease
chronic kidney disease
screening
prevention
lysosomal disorders
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2021.640876/full

Internet

https://www.frontiersin.org/articles/10.3389/fmed.2021.640876/full

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