Dreyfus J C, Poenaru L
Ann Biol Clin (Paris). 1975;33(6):465-72.
The detection of enzumatic deficiencies on cultured cells is reviewed from the literature and the authors personal experience. The application to the antenatal diagnosis of enzymatic genetic diseases is discussed, with special reference to lysosomal enzymes, of which the deficiency is most frequent. The authors insist on the importance of such detections and the problems which they may have to meet.
本文从文献及作者个人经验出发,对培养细胞中酶缺乏症的检测进行了综述。文中讨论了酶缺乏症检测在酶遗传性疾病产前诊断中的应用,特别提及了溶酶体酶,其缺乏最为常见。作者强调了此类检测的重要性以及可能面临的问题。