Tsvetkova I V
Klin Lab Diagn. 2010 Mar(3):5-11.
The paper describes biochemical methods for determining the activity of a number of lysosomal hydrolases, deficiency of which underlies hereditary lysosomal storage diseases. The methods permit the precise diagnosis of the diseases in a patient and the prenatal diagnosis of a disease in a fetus in at-risk families.
本文描述了用于测定多种溶酶体水解酶活性的生化方法，这些酶的缺乏是遗传性溶酶体贮积病的基础。这些方法能够对患者的疾病进行精确诊断，并对高危家庭中胎儿的疾病进行产前诊断。
