溶酶体贮积症的诊断与治疗进展
Recent advances in the diagnosis and treatment of lysosomal storage diseases作者机构：北京大学第一医院儿科北京100034
出 版 物：《北京大学学报（医学版）》 (Journal of Peking University:Health Sciences)
年 卷 期：2005年第37卷第4期
页 面：440-444页
核心收录：
学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学]
摘 要：SUMMARY Lysosomal storage diseases are a group of genetic disorders that result from the defect in lysosomal function. Signs and symptoms are variable, it is difficult to diagnose this group of disease merely by the clinical manifestation. The diagnosis usually is made by measuring the activity of the corresponding enzyme. Gene mutational analysis is useful for the diagnosis of some of the lysosome storage diseases. The treatment has focused on the replacement of the defective enzyme responsible for the disease and the hematopoietic stem cell transplantation. Both of them have achieved exciting outcomes in some of the diseases.
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