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| http://dx.doi.org/10.1007/s10803-022-05889-1 | DOI Listing |
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Evaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey.
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Department of Gastroenterology, Hepatology and Infectious Diseases, University Hospital, Heinrich- Heine University, Düsseldorf, Germany.
Background: Patients with Gaucher disease (GD) require continual monitoring; however, lack of specific disease biomarkers was a significant challenge in the past. Glucosylsphingosine (lyso-Gb1) has been shown to be a reliable, key, specific, and sensitive biomarker for diagnosis, prognosis, and treatment response in clinical studies of patients with GD. We evaluated the change in lyso-Gb1 concentration over time following enzyme replacement therapy in patients with confirmed GD using real-world data from the Gaucher Outcome Survey disease registry.
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Department of Emergency Medicine, Lausanne University Hospital and University of Lausanne, 21 Rue du Bugnon, BH 09, 1011, Lausanne, Switzerland.
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Black Dog Institute, University of New South Wales, Sydney, NSW, 2031, Australia.
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Sci Rep
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Department of Neurosurgery and Neurooncology, First Faculty of Medicine, Charles University and Military University Hospital, U Vojenske nemocnice 1200, Prague, 169 02, Czech Republic.
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