Publication
Genetic Variation in a Common Biomarker
| dc.contributor.author | Duarte, Ana J | |
| dc.contributor.author | Ribeiro, Diogo | |
| dc.contributor.author | Amaral, Olga | |
| dc.date.accessioned | 2012-10-25T15:07:24Z | |
| dc.date.available | 2012-10-25T15:07:24Z | |
| dc.date.issued | 2012-02 | |
| dc.description | Publicado em: Molecular Genetics and Metabolism 105 (2012) S15–S69. Disponível em: http://www.sciencedirect.com/science/article/pii/S1096719211004665 | por |
| dc.description.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. | por |
| dc.identifier.uri | http://hdl.handle.net/10400.18/1082 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.relation | FCT - PIC/IC/82822/2007 | por |
| dc.subject | Doenças Genéticas | por |
| dc.subject | Chitotriosidase | por |
| dc.subject | Genética Humana | por |
| dc.subject | Marker | por |
| dc.title | Genetic Variation in a Common Biomarker | por |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | San Diego, USA | por |
| oaire.citation.title | 8th Annual Research Meeting of the WORLD Symposium on Lysosomal Disease Networks, Feb 8-10 2012 | por |
| rcaap.rights | restrictedAccess | por |
| rcaap.type | conferenceObject | por |