Article
Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis.
Molecular genetics and metabolism - 1 Feb 2015
van der Tol Linda, Svarstad Einar, Ortiz Alberto, Tøndel Camilla, Oliveira João Paulo, Vogt Liffert, Waldek Stephen, Hughes Derralynn A, Lachmann Robin H, Terryn Wim, Hollak Carla E, Florquin Sandrine, van den Bergh Weerman Marius A, Wanner Christoph, West Michael L, Biegstraaten Marieke, Linthorst Gabor E
Abstract excerpt
BACKGROUND AND OBJECTIVES: Screening for Fabry disease (FD), an X-linked lysosomal storage disorder, reveals a significant number of individuals with a genetic variant of unknown significance without classical FD manifestations; these variants in the α-galactosidase A gene often result in a high residual leukocyte α-galactosidase A and it is unclear whether these individuals suffer from FD. Therefore, a...
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