Svennerholm L, Månsson J E, Rosengren B
Clin Genet. 1986 Aug;30(2):131-5. doi: 10.1111/j.1399-0004.1986.tb00582.x.
Cerebroside-beta-glucosidase (acid beta-glucosidase) activity was determined in the forebrain from three patients with the infantile type of Gaucher disease, six patients with the Norrbottnian type and one patient with a mixed infantile/Norrbottnian type. The forebrain from ten subjects, aged 3 months to 20 years, served as controls. The activity was assayed with the natural substrate, (glucose-6-3H) nervonoylglucosylsphingosine and the artificial fluorogenic 4-methyl-umbelliferyl-beta-glucoside. The average residual activities of beta-glucosidase were 12% in the Norrbottnian type and 5% in the infantile type when determined with natural or artificial substrate. Optimum discrimination of the two types of Gaucher disease was obtained with the natural substrate.
在三名婴儿型戈谢病患者、六名诺尔伯顿型患者和一名婴儿/诺尔伯顿混合型患者的前脑中测定了脑苷脂-β-葡萄糖苷酶（酸性β-葡萄糖苷酶）活性。选取了十名年龄在3个月至20岁之间的受试者的前脑作为对照。使用天然底物（葡萄糖-6-³H）神经酰胺葡萄糖基鞘氨醇和人工荧光底物4-甲基伞形酮基-β-葡萄糖苷来测定活性。当使用天然或人工底物测定时，诺尔伯顿型中β-葡萄糖苷酶的平均残余活性为12%，婴儿型中为5%。使用天然底物能对两种类型的戈谢病进行最佳区分。
