Published in
EDP Sciences, médecine/sciences, (21), p. 48-50, 2005
DOI: 10.1051/medsci/20052111s48
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Recent advances of Fabry disease screening for at risk population
Journal article published in 2006 by
Eric Caudron,
Diane Molière,
Jiang-Yan Zhou,
Patrice Prognon,
Dominique P. Germain
This paper is made freely available by the publisher.
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Abstract
An experience in screening of Fabry disease in population at risk by measuremnt of alpha-galactosidase is described. The enzymatic diagnosis in dried blood spots on filter paper is performed on 51 subjects, 15 hemizygous men, 12 heterozygous women and 24 controls. Only 9 of these 12 hererozygous women (75 %) present a reduced activity of alpha-galactosidase A. double dagger.