The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease

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 exi...

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Detalles Bibliográficos
Autores principales: Stiles, Ashlee R., Huggins, Erin, Fierro, Luca, Jung, Seung-Hye, Balwani, Manisha, Kishnani, Priya S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7876627/
https://www.ncbi.nlm.nih.gov/pubmed/33614410
http://dx.doi.org/10.1016/j.ymgmr.2021.100729

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7876627/
https://www.ncbi.nlm.nih.gov/pubmed/33614410
http://dx.doi.org/10.1016/j.ymgmr.2021.100729

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