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Genetic Variation in a Common Biomarker
Publication . Duarte, Ana J; Ribeiro, Diogo; Amaral, Olga
Chitotriosidase (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.
2012-02Documento de conferência Acesso restrito Ver mais