Article
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.
Molecular genetics and metabolism - 1 Feb 2008
Wilcox William R, Oliveira João Paulo, Hopkin Robert J, Ortiz Alberto, Banikazemi Maryam, Feldt-Rasmussen Ulla, Sims Katherine, Waldek Stephen, Pastores Gregory M, Lee Philip, Eng Christine M, Marodi Laszlo, Stanford Kevin E, Breunig Frank, Wanner Christoph, Warnock David G, Lemay Roberta M, Germain Dominique P
Abstract excerpt
Fabry disease (FD) is an X-linked lysosomal storage disease caused by alpha-galactosidase A deficiency. The Fabry Registry is a global clinical effort to collect longitudinal data on FD. In the past, most "carrier" females were usually thought to be clinically unaffected. A systematic effort has been made to enroll all FD females, regardless of symptomology. Of the 1077 enrolled females in the Registry, 69.4% had...
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