Sewell A C
Clin Chim Acta. 1979 Mar 15;92(3):411-4. doi: 10.1016/0009-8981(79)90221-3.
A modified thin-layer chromatographic screening method is presented for the rapid diagnosis of glycoprotein storage disorders based upon excess oligosaccharide excretion. The system has been used successfully in the diagnosis of mannosidosis, GM1 gangliosidosis, mucolipidoses types I and III, aspartyl-glycosaminuria and fucosidosis.
本文提出了一种改良的薄层色谱筛查方法,用于基于过量寡糖排泄对糖蛋白储存障碍进行快速诊断。该系统已成功用于诊断甘露糖苷贮积症、GM1神经节苷脂贮积症、I型和III型粘脂贮积症、天冬氨酰葡糖胺尿症和岩藻糖苷贮积症。