Chitotriosidase variants in patients with Gaucher disease. Implications for diagnosis and therapeutic monitoring

Irún, P.; Alfonso, P.; Aznarez, S.; Giraldo, P.; Pocovi, M.

doi:10.1016/j.clinbiochem.2013.09.006

Chitotriosidase variants in patients with Gaucher disease. Implications for diagnosis and therapeutic monitoring

Objectives Human plasma chitotriosidase (ChT) activity, a biomarker for evaluating and monitoring Gaucher disease (GD), varies in the general population owing to variants in the CHIT1 gene. Our aim is to determine the frequency of the c.1049_1072dup24 (dup24) and p.G102S polymorphisms, their infl…