Please use this identifier to cite or link to this item: http://hdl.handle.net/10400.18/1082
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 review: yes
URI: http://hdl.handle.net/10400.18/1082
Appears in Collections:DGH - Posters/abstracts em congressos internacionais

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