
Chitotriosidase variants in patients with Gaucher disease. Implications for diagnosis and therapeutic monitoring
Keywords: bp, base pairs; ChT, chitotriosidase; eow, every other week; dup24, c.1049_1072dup24; ERT, enzyme replacement therapy; GD, Gaucher disease; 4MU-chitotrioside, 4-methylumbelliferyl-β-D-N,N′,N″triacetylchitotrioside; SSI, severity score index; NEGdup24, neg