Article
Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing.
Clinical genetics - 1 Jun 2021
Delarosa-Rodríguez Rocío, Santotoribio José D, Paula Hernández-Arévalo, González-Meneses Antonio, García-Morillo Salvador, Jiménez-Arriscado Pilar, Guerrero Juan M, Macher Hada C
Abstract excerpt
The purpose of this study was to examine the applicability of the use of samples in dried blood spot (DBS) for the definitive diagnosis of Fabry disease (FD) in males and females and to compare the diagnostic role of α-galactosidase A activity (α-Gal A), levels of lyso-Gb3 and sequencing of the GLA gene in screening patients with suspected FD. Measurement of α-Gal A activity in suspected FD patients in DBS was...
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