Duarte, Ana JRibeiro, DiogoAmaral, Olga2012-10-252012-10-252012-02http://hdl.handle.net/10400.18/1082Publicado em: Molecular Genetics and Metabolism 105 (2012) S15–S69. Disponível em: http://www.sciencedirect.com/science/article/pii/S1096719211004665Chitotriosidase (EC.3.2.1.14) is an enzyme secreted by activated macrophages. This chitinase is useful as a biochemical marker in several lysosomal and nonlysosomal diseases due to its increased activity in such conditions (MIM#600031). In Gaucher disease type 1 (GD, MIM#230800) patients, the chitotriosidase activity is increased in about 600-fold compared with normal controls. Chitotriosidase is not only useful as a disease severity marker but also measures the effectiveness of the therapy in GD.engDoenças GenéticasChitotriosidaseGenética HumanaMarkerconference object