Please use this identifier to cite or link to this item: http://hdl.handle.net/10400.18/750
Title: Genetic variation in CHIT 1
Authors: Duarte, Ana
Ribeiro, Diogo
Amaral, Olga
Keywords: Doenças Genéticas
CHIT1
Genetic Disease
Issue Date: Nov-2011
Publisher: SPDM
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. CHIT1 variants may account for additional biochemical variability and should be considered when using chitotriosidase activity as a secondary evaluation marker in diagnosis and disease prognosis.
Peer review: yes
URI: http://hdl.handle.net/10400.18/750
Appears in Collections:DGH - Posters/abstracts em congressos nacionais

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