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Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients.

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Academic year: 2017

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Figure 1. Chemical structure of Glucosylsphingosine. This substance was only analysed by HPLC-MS/MS with high sensitivity and specificity of diagnosing GD.
Figure 2. Analysis of Glucosylsphingosine and Internal Standard in different samples. Measurement of Glucosylsphingosine (first peak in chromatograms (blue), second peak in chromatograms is Internal Standard (red)) in a healthy control (1.71 ng/ml) (A) and
Figure 3. Glucosylsphingosine levels in sub-cohorts. Level of Glucosylsphingosine is illustrated in the entire cohort (A) and separated according to gender (B)
Figure 4. ROC curve analysis for comparison of Glucosylsphingosine. Glucosylsphingosine (A; red line; area under the curve (AUC) = 1.00) and Chitotriosidase (A; blue line; AUC = 0.96) as well as Glucosylsphingosine (B; red line; AUC = 1.00) and CCL18 (B; b
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