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. 2004;27(5):705-6.
doi: 10.1023/b:boli.0000043025.17721.fc.

The expanding spectrum of disorders with elevated plasma chitotriosidase activity: an update

H Michelakakis  1 , E Dimitriou, I Labadaridis
Affiliations

The expanding spectrum of disorders with elevated plasma chitotriosidase activity: an update

H Michelakakis et al. J Inherit Metab Dis. 2004.

Abstract

A striking elevation of plasma chitotriosidase activity, greater than 150 times the normal median value, was found in two galactosialidosis patients. Furthermore, increased plasma chitotriosidase activity, 10-53 times the normal median value, was also observed in fucosidosis, glycogen storage disease type IV, Alagille syndrome and hydrops fetalis due to congenital herpes virus infection.

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