The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease.
Abstract
Gaucher disease (GD), a lysosomal storage disorder caused by β-glucocerebrosidase
deficiency, results in the accumulation of glucosylceramide and glucosylsphingosine.
Glucosylsphingosine has emerged as a sensitive and specific biomarker for GD and treatment
response. However, limited information exists on its role in guiding treatment decisions
in pre-symptomatic patients identified at birth or due to a positive family history.
We present two pediatric patients with GD1 and highlight the utility of glucosylsphingosine
monitoring in guiding treatment initiation.
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https://hdl.handle.net/10161/26420Published Version (Please cite this version)
10.1016/j.ymgmr.2021.100729Publication Info
(2021). The role of glucosylsphingosine as an early indicator of disease progression in early
symptomatic type 1 Gaucher disease. Molecular genetics and metabolism reports, 27. pp. 100729. 10.1016/j.ymgmr.2021.100729. Retrieved from https://hdl.handle.net/10161/26420.This is constructed from limited available data and may be imprecise. To cite this
article, please review & use the official citation provided by the journal.
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Show full item recordScholars@Duke
Priya Sunil Kishnani
Chen Family Distinguished Professor of Pediatrics
RESEARCH INTERESTS A multidisciplinary approach to care of individuals with genetic
disorders in conjunction with clinical and bench research that contributes to: 1)
An understanding of the natural history and delineation of long term complications
of genetic disorders with a special focus on liver Glycogen storage disorders, lysosomal
disorders with a special focus on Pompe disease, Down syndrome and hypophosphatasia2) )
The development of new therapies such
Ashlee R. Stiles
Associate Professor of Pediatrics
Dr. Stiles is a fellow of the American College of Medical Genetics and Genomics trained
in clinical biochemical genetics and molecular genetics. She is co-director of the
Duke University Health System Biochemical Genetics Laboratory and external Referral
Laboratory. In her work with the Biochemical Genetics laboratory, her research interests
focus on improving and developing laboratory diagnostics for rare inborn errors of
metabolism. In her role as director of the Referral laboratory, she wo
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