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Fabri Disease Selective Screening: review of literature and experience in the Russian Federation

In Clinical Nephrology journal (RINC: 0,476) the researchers of the FSBI RCMG Hereditary Metabolic Diseases Laboratory (headed by E.Yu. Zakharova, Doctor of med. sci.) have for the first time in Russia proposed and described the application of selective screening method for Fabry Disease diagnosis in dried blood spots:

Fabri Disease Selective Screening: review of literature and experience in the Russian Federation

A.A. Ilyushkina, G.V. Baidakova, I.O. Bychkov, T.A. Buruleva, E.Yu. Zakharova

Fabry's disease has various clinical manifestations.  The use of selective screening to determine the concentration of globotriaoisylsfingozine (LysoGb3) in dried blood spots can help to find patients and make the right diagnosis. The new approach to FD screening can identify both male and female patients. 

Clinical nephrology 2020(2), 61-66;

https://dx.doi.org/10.18565/nephrology.2020.2.61-66