Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease
非溶酶体葡萄糖神经酰胺酶 2 作为戈谢病修饰剂的功能和遗传特征
期刊:Orphanet Journal of Rare Diseases
影响因子:3.4
doi:10.1186/1750-1172-8-151
Yildiz Yildiz, Per Hoffmann, Stefan Vom Dahl, Bernadette Breiden, Roger Sandhoff, Claus Niederau, Mia Horwitz, Stefan Karlsson, Mirella Filocamo, Deborah Elstein, Michael Beck, Konrad Sandhoff, Eugen Mengel, Maria C Gonzalez, Markus M Nöthen, Ellen Sidransky, Ari Zimran, Manuel Mattheisen