Article
Comparision of fluorimetric and mass spectrometric methods for Fabry disease newborn screening.
Klinicheskaia laboratornaia diagnostika - 17 Apr 2022
Orlov D S, Nazarenko L P, Didenko L I, Seitova G N
Abstract excerpt
Fabry disease is an X-linked hereditary lysosomal storage disorder caused by mutations in the GLA gene. Neonatal screening for Fabry disease in males is feasible by measurement of α-galactosidase A activity in DBS using either the mass spectrometric or fluorigenic substrate. The aim of the study: to assess the possibility of introducing the compared methods into the practice of neonatal screening. In the both...
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