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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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Autori principali: Ashlee R. Stiles, Erin Huggins, Luca Fierro, Seung-Hye Jung, Manisha Balwani, Priya S. Kishnani
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2021-06-01
Serie:Molecular Genetics and Metabolism Reports
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Accesso online:http://www.sciencedirect.com/science/article/pii/S2214426921000239
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