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Genetic Variation in a Common Biomarker
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Resumo(s)
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.
Descrição
Publicado em: Molecular Genetics and Metabolism 105 (2012) S15–S69. Disponível em: http://www.sciencedirect.com/science/article/pii/S1096719211004665
Palavras-chave
Doenças Genéticas Chitotriosidase Genética Humana Marker