Glucosylsphingosine is a reliable response biomarker in G aucher disease
نویسندگان
چکیده
منابع مشابه
Running title : Plasma glucosylsphingosine in Gaucher disease
Department of Medical Biochemistry, Academic Medical Center, Amsterdam, The Netherlands Department of Internal Medicine Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands Leiden Institute of Chemistry, Leiden University, Leiden, The Netherlands Department of Radiology, Academic Medical Center, Amsterdam, The Netherlands Department of Pediatrics, Academic Medical C...
متن کاملGlucosylsphingosine 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
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 biomarke...
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ژورنال
عنوان ژورنال: American Journal of Hematology
سال: 2018
ISSN: 0361-8609,1096-8652
DOI: 10.1002/ajh.25074