12 A practical approach to diagnosis and management of Gaucher's disease
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Cited by (31)
Newborn screening for Gaucher disease in Japan
2022, Molecular Genetics and Metabolism ReportsOral maintenance clinical trial with miglustat for type I Gaucher disease: Switch from or combination with intravenous enzyme replacement
2007, BloodCitation Excerpt :The combination with imiglucerase did not provide any substantial benefit in stable patients. Nonetheless, although combination does not reduce the risks or disadvantages of either, one may consider combination therapy for patients with neuronopathic disease or for patients with severe disease who have not achieved prescribed therapeutic goals with enzyme alone.17,22 As in all previous clinical trials in patients with type I Gaucher disease, this study has no placebo-controlled arm.
Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease
2005, Blood Cells, Molecules, and DiseasesMarked elevation of the chemokine CCL18/PARC in Gaucher disease: A novel surrogate marker for assessing therapeutic intervention
2004, BloodCitation Excerpt :For example, in the initial chitotriosidase study, plasma activity was found to be elevated on average 641-fold (median control plasma, 20 nmol/mL/h; range, 4-76 nmol/mL/h; median Gaucher plasma, 12 824 nmol/mL/h; range, 3122-65 349 nmol/mL/h).5 Plasma chitotriosidase has proven to be a useful surrogate marker for Gaucher disease manifestations and is used for diagnosis, early determination of onset of disease, and monitoring of therapeutic efficacy.5-8 Plasma chitotriosidase levels do not reflect one particular clinical symptom, but rather are a reflection of the total body burden of Gaucher cells.9
Transglycosidase Activity of Chitotriosidase: Improved enzymatic assay for the human macrophage chitinase
2003, Journal of Biological ChemistryCitation Excerpt :Plasma chitotriosidase has evolved as an important tool in decision making in the clinic. For example, initiation of costly enzyme replacement therapy for Gaucher patients is considered in many centers when the plasma chitotriosidase level exceeds a critical threshold level and changes in activity level serve as guideline for optimalization of dosing regimens during enzyme replacement therapy of Gaucher patients (8, 14). Obviously, the application of plasma chitotriosidase measurements for these purposes requires highly reliable and reproducible data while monitoring patients over a large period of time.