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新生儿期起病的遗传性代谢病-附三例报告

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摘要 目的探讨新生儿期起病的遗传代谢病的临床特点,非特异性症状,寻求早期诊断依据。方法对疑似病例及早筛查并结合病史、家族史、临床表现、生化和分子生物学检测、组织学和影像学检查等综合分析做出诊断。结果早期诊断是防止误诊进行及时处理,挽救生命、避免或减少严重并发症及神经系统伤残的关键。
机构地区 哈尔滨儿童医院
出处 《中国优生与遗传杂志》 2011年第10期104-105,共2页 Chinese Journal of Birth Health & Heredity
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