The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease.
Publication
, Journal Article
Stiles, AR; Huggins, E; Fierro, L; Jung, S-H; Balwani, M; Kishnani, PS
Published in: Mol Genet Metab Rep
June 2021
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.
Duke Scholars
Published In
Mol Genet Metab Rep
DOI
ISSN
2214-4269
Publication Date
June 2021
Volume
27
Start / End Page
100729
Location
United States
Related Subject Headings
- 3202 Clinical sciences
- 3105 Genetics
- 0604 Genetics
- 0601 Biochemistry and Cell Biology
Citation
APA
Chicago
ICMJE
MLA
NLM
Stiles, A. R., Huggins, E., Fierro, L., Jung, S.-H., Balwani, M., & Kishnani, P. S. (2021). The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease. Mol Genet Metab Rep, 27, 100729. https://doi.org/10.1016/j.ymgmr.2021.100729
Stiles, Ashlee R., Erin Huggins, Luca Fierro, Seung-Hye Jung, Manisha Balwani, and Priya S. Kishnani. “The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease.” Mol Genet Metab Rep 27 (June 2021): 100729. https://doi.org/10.1016/j.ymgmr.2021.100729.
Stiles AR, Huggins E, Fierro L, Jung S-H, Balwani M, Kishnani PS. The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease. Mol Genet Metab Rep. 2021 Jun;27:100729.
Stiles, Ashlee R., et al. “The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease.” Mol Genet Metab Rep, vol. 27, June 2021, p. 100729. Pubmed, doi:10.1016/j.ymgmr.2021.100729.
Stiles AR, Huggins E, Fierro L, Jung S-H, Balwani M, Kishnani PS. The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease. Mol Genet Metab Rep. 2021 Jun;27:100729.
Published In
Mol Genet Metab Rep
DOI
ISSN
2214-4269
Publication Date
June 2021
Volume
27
Start / End Page
100729
Location
United States
Related Subject Headings
- 3202 Clinical sciences
- 3105 Genetics
- 0604 Genetics
- 0601 Biochemistry and Cell Biology