Article
[Fabry disease: enzymatic screening using dried blood spots on filter paper].
La Revue de medecine interne - 1 Dec 2010
Caudron E, Germain D P, Prognon P
Abstract excerpt
INTRODUCTION: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the GLA gene, which leads to a deficient activity of α-galactosidase A. α-galactosidase A activity can be assayed on dried blood spots on filter paper but the original method has been associated with a number of false positive due in great part to quenching of fluorescence. Here, we describe an adaptation of the...
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