QR-kod

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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
Huvudupphov: Ashlee R. Stiles, Erin Huggins, Luca Fierro, Seung-Hye Jung, Manisha Balwani, Priya S. Kishnani
Materialtyp: Artigo
Språk:Inglês
Utgiven: Elsevier 2021-06-01
Serie:Molecular Genetics and Metabolism Reports
Ämnen:
Länkar:http://www.sciencedirect.com/science/article/pii/S2214426921000239
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!