Duarte, AnaRibeiro, DiogoAmaral, Olga2012-03-142012-03-142011-11http://hdl.handle.net/10400.18/750Chitotriosidase (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. CHIT1 variants may account for additional biochemical variability and should be considered when using chitotriosidase activity as a secondary evaluation marker in diagnosis and disease prognosis.engDoenças GenéticasCHIT1Genetic Diseaseconference object