Article
Residual enzymatic activity as a prognostic factor in patients with Gaucher disease type 1: correlation with Zimran and GAUSS-I index and the severity of bone disease.
QJM : monthly journal of the Association of Physicians - 1 Jul 2016
Torralba M A, Olivera S, Bureo J C, Dalmau J, Nuñez R, León P, Villarrubia J
Abstract excerpt
BACKGROUND: Gaucher disease (GD) is an autosomal recessive disorder produced by mutations in the glucocerebrosidase gene (GBA), causing storage of glucosylceramide in reticuloendothelial cells in multiple organs. Traditionally, the prediction of the phenotype based on the genotype has been reported to be limited. SUBJECTS AND METHODS: We investigated the correlation between the enzymatic residual activity (ERA)...
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