| 智力低下儿童与苯丙酮尿症杂合子 |
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| 引用本文： | 宋力,徐风铎,任立英,单忠敏,叶明德.智力低下儿童与苯丙酮尿症杂合子[J].中国优生与遗传杂志,1995,3(6):30-31. |
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| 作者姓名： | 宋力 徐风铎 任立英 单忠敏 叶明德 |
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| 作者单位： | [1]天津市儿童医院儿科研究所，300074 [2]天津市儿童医院儿科研究所指导，300074 |
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| 摘 要： | 用血浆phe赦度和Phe／Tyr，Phe^2／Tyr，Phe／LNAA比值．以其中一项或一项以上大于正常（成人或儿童)x 2S为诊断杂合子依据．分析了75例智低原因不明儿童．6例新生儿筛查疑高苯丙是酸血症小儿及部分父母。结果显示有26例儿童(23／75，3/6)符合杂合子诊断，其中10例的父母18人中12人符合杂合子标准。
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| 关 键 词： | 杂合子 诊断 智力低下 苯丙酮尿症 儿童 原因不明 人中 父母 依据 比值 |
Mental retardation and PKU heterozygotes |
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| .Song Li,et al..Mental retardation and PKU heterozygotes[J].Chinese Journal of Birth Health & Heredity,1995,3(6):30-31. |
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| Authors: | Song Li |
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| Abstract: | children having mental retardation with unknown causes. 6 infants suspected to be hyperphenylalaninaemia during the neonatal screening, and 18 adults whose children were known as PKU heterozygotes were studied by analysing the concentration of plasma phenylalanine, tyrosine and large neutral amino acids, and the ratios of Phe/Tyr,Phe2/Tyr and Phe/LNAA.The result showed that 26 children(23175,3/6)and 12/18 adults(parents of 10126 cases)were in conformity with the criterion of PKU heterozygote. |
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| Keywords: | Mental retardation PKU Heterozygote Neonatal screening |
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