Author(s): Rolfs, Prof. Arndt, MD, Giese, Anne Katrin, MD, Eichler, Sabrina, PhD, Lukas, Jan, PhD, Muehl, Adolf, PhD, Mascher, Prof. Hermann, Grittner, Ulrike, PhD, Mascher, Daniel, PhD
We determined the sensitivity and specificity of Glucosylsphingosine for the primary diagnosis and monitoring of Gaucher disease. Read more!
Here, we determined the sensitivity and specificity of Glucosylsphingosine for the primary diagnosis and monitoring of Gaucher disease (GD), where a defect in the beta-Glucosidase (GBA) gene leads to the accumulation of glucosylceramide.
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