Article
[Biochemical and genetic diagnosis of Gaucher disease and its phenotypical heterogeneity].
Voprosy meditsinskoi khimii - 1 Jan 2000
Beĭer E M, Bukina T M, Tsvetkova I V
Abstract excerpt
A biochemical study of three patients with clinical symptoms of Gaucher disease was carried out. Two of them had a significant deficiency of beta-glucocerebrosidase activity (a primary enzyme defect) in leukocytes and an enormous increasing of chitotriosidase activity in blood plasma that confirmed the diagnosis of Gaucher disease. Some differences in stability of mutant enzymes were found in these two cases....
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