Article
An intronic haplotype in α galactosidase A is associated with reduced mRNA expression in males with cryptogenic stroke.
Gene - 10 Oct 2014
Zeevi David A, Hakam-Spector Elinor, Herskovitz Yair, Beeri Rachel, Elstein Deborah, Altarescu Gheona
Abstract excerpt
Persons with unexplained early-onset stroke have been targeted for screening surveys for Fabry disease, the most common of the three X-linked lysosomal disorders, because Fabry patients with stroke are more likely to have the life-threatening progressive cardiac and renal manifestations and would therefore most benefit from early diagnosis and intervention with enzyme replacement therapy (ERT). Among 175 Israeli...
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