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现将国内 1999～ 2 0 0 0年儿科遗传代谢和内分泌疾病方面的诊治进展简述于下。1 遗传代谢性疾病遗传代谢病生化改变的研究、致病基因突变的研究、染色体病畸变检测新技术等为临床提供了更为准确、有效的早期诊断和防治的新方法 ,例如采用高效液相色谱法(ＨＰＬＣ)分析法从苯
Now domestic 1999 ~ 2000 pediatric genetic metabolic and endocrine diseases in the diagnosis and treatment of the progress outlined below. A genetic metabolic disease genetic metabolic disease changes, studies of pathogenic mutations, chromosomal abnormalities detection of new technologies provide a more accurate and effective early diagnosis and prevention of new methods, such as the use of high-performance liquid chromatography Chromatography (HPLC) analysis from benzene