Article
Fabry disease in infancy and early childhood: a systematic literature review.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2015
Laney Dawn A, Peck Dawn S, Atherton Andrea M, Manwaring Linda P, Christensen Katherine M, Shankar Suma P, Grange Dorothy K, Wilcox William R, Hopkin Robert J
Abstract excerpt
PURPOSE: Fabry disease is a pan-ethnic, progressive, X-linked genetic disorder that commonly presents in childhood and is caused by deficient activity of the lysosomal enzyme alpha-galactosidaseA (α-gal A). Symptoms of Fabry disease in the pediatric population are well described for patients over five years of age; however, data are limited for infancy and early childhood. The purpose of this article is to...
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