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

@inproceedings{Rolfs2013GlucosylsphingosineIA,
  title={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},
  author={Arndt Rolfs and Anne Katrin Giese and Ulrike Grittner and Daniel Gerhard Mascher and Deborah Elstein and Ari Zimran and Tobias Boettcher and Jan Lukas and Rayk H{\"u}bner and Uta Goelnitz and Anja Roehle and Ales Dudesek and Wolfgang Meyer and Matthias Wittstock and Hermann Josef Mascher},
  booktitle={PloS one},
  year={2013}
}
BACKGROUND Gaucher disease (GD) is the most common lysosomal storage disorder (LSD). Based on a deficient β-glucocerebrosidase it leads to an accumulation of glucosylceramide. Standard diagnostic procedures include measurement of enzyme activity, genetic testing as well as analysis of chitotriosidase and CCL18/PARC as biomarkers. Even though chitotriosidase is the most well-established biomarker in GD, it is not specific for GD. Furthermore, it may be false negative in a significant percentage… CONTINUE READING

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