Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB
成纤维细胞中残留的N-乙酰-α-氨基葡萄糖苷酶活性与IIIB型粘多糖贮积症患者的疾病严重程度相关。
期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1007/s10545-016-9916-2
Meijer, O L M; Welling, L; Valstar, M J; Hoefsloot, L H; Brüggenwirth, H T; van der Ploeg, A T; Ruijter, G J G; Wagemans, T; Wijburg, F A; van Vlies, N
