Successful screening for Gaucher disease in a high-prevalence population in tabuleiro do Norte (northeastern Brazil): a cross-sectional study.

@article{Chaves2011SuccessfulSF,
  title={Successful screening for Gaucher disease in a high-prevalence population in tabuleiro do Norte (northeastern Brazil): a cross-sectional study.},
  author={Rigoberto Gadelha Chaves and Janice Carneiro Coelho and Kristiane Michelin-Tirelli and Tibelle Freitas Maur{\'i}cio and Edineide de Freitas Maia Chaves and Paulo C{\'e}sar de Almeida and Carlos R{\^o}mulo Filgueira Maur{\'i}cio and Geraldo Barroso Cavalcanti},
  journal={JIMD reports},
  year={2011},
  volume={1},
  pages={73-8}
}
BACKGROUND Gaucher disease (GD) is a hereditary lysosomal storage disorder characterized by the accumulation of glucosylceramide, mainly in the cells of the reticuloendothelial system, due to a deficiency of the enzyme acid β-glucosidase (GBA). Diagnosis is usually based on measurement of GBA activity in peripheral leukocytes. The purpose of this study was to evaluate the ability of screening for GBA and chitotriosidase activity using dried blood spots on filter paper (DBS-FP) to identify… CONTINUE READING
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