The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease.
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2021-06
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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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Stiles, Ashlee R, Erin Huggins, Luca Fierro, Seung-Hye Jung, Manisha Balwani and Priya S Kishnani (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. p. 100729. 10.1016/j.ymgmr.2021.100729 Retrieved from https://hdl.handle.net/10161/26420.
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Ashlee R. Stiles
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 works closely with hospital leadership on utilization management of genetic send-out tests.
Erin Huggins
I entered the Molecular Genetics and Microbiology program in 2024 and rotated through the San Roman, Crawford, and Kishnani labs during my first year. Each rotation was a wonderful learning experience and at the end of my third rotation, I opted for a co-mentorship between Dr. Gregory Crawford and Dr. Priya Kishnani.
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