Application of a comprehensive protocol for the identification of Gaucher disease in Brazil.

Abstract

Gaucher disease (GD) is a sphingolipidosis caused by a genetic defect that leads to glucocerebrosidase (beta-glucosidase) deficiency. Between January 1982 and October 2003, 1,081 blood samples from patients suspected of having GD were referred for biochemical analysis. The activities of the enzymes beta-glucosidase (beta-glu) and chitotriosidase (CT) were… (More)

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Cite this paper

@article{Michelin2005ApplicationOA, title={Application of a comprehensive protocol for the identification of Gaucher disease in Brazil.}, author={Kristiane Michelin and Alessandro Wajner and Fernanda Santos de Souza and Alexandre Silva de Mello and Maira Graeff Burin and Maria Luiza Saraiva Pereira and Ricardo Francisco Pires and Roberto Giugliani and J. D. Coelho}, journal={American journal of medical genetics. Part A}, year={2005}, volume={136 1}, pages={58-62} }