Bakhru-Kishore R, Desjardins L, Kelly S
Clin Chim Acta. 1976 Nov 15;73(1):89-92. doi: 10.1016/0009-8981(76)90308-9.
We describe an improved method for detecting deficiency of the acid hydrolase, alpha-1,4-glucosidase in leukocytes, the enzyme defect in glycogen storage disease Type II (Pompe disease). The procedure requires smaller volumes of blood and less time than previous methods. The assay involves the separation of leukocytes by Peter's method for beta-glucosidase and a modification of Salafsky and Nadler's fluorometric method for alpha-glucosidase.
我们描述了一种改进的方法,用于检测白细胞中酸性水解酶α-1,4-葡萄糖苷酶的缺乏,该酶缺陷见于II型糖原贮积病(庞贝病)。与以前的方法相比,该程序所需的血量更少,时间更短。该测定包括用彼得氏法分离白细胞以检测β-葡萄糖苷酶,并对萨拉夫斯基和纳德勒的α-葡萄糖苷酶荧光测定法进行修改。