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Repositório Científico do Instituto Nacional de Saúde >
Departamento de Genética Humana >
DGH - Posters/abstracts em congressos internacionais >
Please use this identifier to cite or link to this item:
http://hdl.handle.net/10400.18/1082
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| Title: | Genetic Variation in a Common Biomarker |
| Authors: | Duarte, Ana J
Ribeiro, Diogo
Amaral, Olga |
| Keywords: | Doenças Genéticas
Chitotriosidase
Genética Humana
Marker |
| Issue Date: | Feb-2012 |
| Abstract: | 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. |
| Description: | Publicado em: Molecular Genetics and Metabolism 105 (2012) S15–S69. Disponível em: http://www.sciencedirect.com/science/article/pii/S1096719211004665 |
| Peer Reviewed: | yes |
| URI: | http://hdl.handle.net/10400.18/1082 |
| Appears in Collections: | DGH - Posters/abstracts em congressos internacionais
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