遗传病筛查
yí chuán bìnɡ shāi chá
- 名genetic screening
遗传病筛查
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PGD适用于特殊遗传病的筛查,如囊性纤维化和神经节苷脂病,而且PGD也可以用于性别选择。
PGD is good for screening for specific genetic disorders such as cystic fibrosis and Tay-Sachs disease , and also can be used to select gender .
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结论:在本地区建立新生儿遗传代谢病的筛查系统是必要的。沈阳地区PKU及持续性高Phe血症的发病率分别为1/13358、1/18216。
Results : Conclusions : The incidence was 1 / 13 358 for PKU , and 1 / 18 216 for persistent hyperphenylalaninemia in Shenyang . It is necessary to establish a screening system of neonatal hereditary metabolic diseases in this area .
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气相色谱/质谱对儿童先天遗传代谢病的筛查
The Screening of the Inherited Metabolic Diseases For the Children in Urine Using GC / MS
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小儿遗传代谢缺陷病的筛查诊断
Screening and Diagnosis of Inherited Metabolic Diseases