Tandem mass spectrometry of globotriaosylceramide: quantification in plasma and urine for diagnosis and therapy monitoring in Fabry disease

Abstract

Objective: An assay for measuring globotriaosylceramide (Gb3Cer) levels in plasma and urine of patients with Fabry disease (FD) has been established.

Keywords

• Fabry disease
• globotriaosylceramide
• tandem mass spectrometry
• enzyme replacement therapy