Please use this identifier to cite or link to this item:
|Title:||Genetic variation in CHIT 1|
|Abstract:||Chitotriosidase (EC.184.108.40.206) 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.|
|Appears in Collections:||DGH - Posters/abstracts em congressos nacionais|
Files in This Item:
|abstract_spdm_48.pdf||167,91 kB||Adobe PDF||View/Open Request a copy|
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.