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Successful Monitoring of Gaucher Disease

Dr. rer. nat. Claudia Cozma, MD
June 27, 2020

Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots

Biomarkers are key tools in establishing a diagnosis and monitoring rare disorders. The lipid metabolite Lyso-Gb1 has long been known as an excellent diagnostic biomarker. In a recent study, which was initiated and led by researchers at CENTOGENE, Lyso-Gb1 was shown to also be ideally suited for monitoring purposes. The findings were published in the International Journal of Molecular Sciences.