László A, Ilyés M, Klujber L
Acta Paediatr Hung. 1984;25(3):237-40.
Beta-glucosidase was determined in leukocyte homogenates of a male child with Gaucher's disease and members of his family. An important difference in enzyme activity was found in the heterozygous gene carriers; in one obligate heterozygote, the mother, a high residual enzyme capacity was detected. Various methods of enzyme determination using various substrates are recommended for the detection of the gene carrier condition.
在一名患有戈谢病的男童及其家庭成员的白细胞匀浆中测定了β-葡萄糖苷酶。在杂合基因携带者中发现了酶活性的重要差异；在一名必然的杂合子即母亲身上，检测到了较高的残余酶活性。推荐使用各种底物的多种酶测定方法来检测基因携带者状态。
