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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Detalles Bibliográficos
Autores principales: Battaglia, Yuri, Fiorini, Fulvio, Azzini, Cristiano, Esposito, Pasquale, De vito, Alessandro, Granata, Antonio, Storari, Alda, Mignani, Renzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7900152/
https://www.ncbi.nlm.nih.gov/pubmed/33634157
http://dx.doi.org/10.3389/fmed.2021.640876

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7900152/
https://www.ncbi.nlm.nih.gov/pubmed/33634157
http://dx.doi.org/10.3389/fmed.2021.640876

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