01什么是遗传性代谢病 定义:遗传性代谢病(inherited metabolic diseases, IMD),..
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...中的蛋白质或酶变化以及核酸的相应改动,使人们理解到分子病(molecular disease)和遗传性代谢病(genetic metabolic disease)对人类安康的影响。
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遗传性代谢病研究学会 SSIEM
也称遗传性代谢病 inherited metabolic diseases
遗传性代谢疾病 inherited metabolic disorders
遗传性代谢缺陷病 IEM
遗传性内分泌代谢疾病 Hereditary endocrine and metabolic diseases
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近年来,脐血造血干细胞移植已广泛用于治疗儿童白血病、先天性免疫缺陷病、遗传性代谢病等方面。
Till now cord blood transplantation has been widely used in treating children leukemia, inborn immune deficiency, heritage metabolic disease and so on.
对于遗传性内分泌代谢病的诊断,以往主要依赖临床表型分析和生化检查,同时结合其遗传模式。
In the past, the diagnosis of inherited endocrine and metabolic diseases largely depended on the clinical manifestations, biochemical examinations and genetic modes.
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