【摘 要】
：
遗传代谢病涉及多种物质代谢异常,其种类繁多,临床症状复杂,往往造成不可逆的神经系统损害。近年来,这类疾病成为国内外医学领域研究的热点之一,相关诊断及治疗技术方面不断
【机 构】
：
首都儿科研究所附属儿童医院神经内科,
论文部分内容阅读
遗传代谢病涉及多种物质代谢异常,其种类繁多,临床症状复杂,往往造成不可逆的神经系统损害。近年来,这类疾病成为国内外医学领域研究的热点之一,相关诊断及治疗技术方面不断有新的发展。现对遗传代谢病的传统检测手段及治疗方法予以介绍,并对基因分析、基因芯片技术、器官移植和酶制剂治疗等新的诊疗方法进行综述。
Genetic metabolic disease involves a variety of material metabolism, its wide range of complex clinical symptoms, often resulting in irreversible nervous system damage. In recent years, such diseases have become one of the hot spots in the field of medicine both at home and abroad. There are continuous new developments in relevant diagnostic and therapeutic technologies. Presently, the traditional detection methods and treatment methods of genetic metabolic diseases are introduced, and the new diagnosis and treatment methods such as gene analysis, gene chip technology, organ transplantation and enzyme preparation treatment are reviewed.
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