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Autor:
Stef Bannink, Kateryna O. Bila, Joosje van Weperen, Nina A.M. Ligthart, Maria J. Ferraz, Rolf G. Boot, Daan van der Vliet, Daphne.E.C. Boer, Herman S. Overkleeft, Marta Artola, Johannes M.F.G. Aerts
Publikováno v:
Journal of Lipid Research, Vol 65, Iss 11, Pp 100670- (2024)
Gaucher disease (GD) is a lysosomal storage disorder (LSD) resulting from inherited glucocerebrosidase (GBA1) deficiency. GD diagnosis relies on GBA1 activity assays, typically employing 4-methylumbelliferyl-β-D-glucopyranoside (4MU-β-Glc) as fluor
Externí odkaz:
https://doaj.org/article/ba842dc75ec34116b99c93345559f07f
