半乳糖血症：新西兰的估计活产发病率。
Galactosaemia: estimated live birth incidence in New Zealand.
作者信息
Lyon I C, Chapman C J, Houston I B, Veale A M
出版信息
Humangenetik. 1975 May 26;28(1):79-82. doi: 10.1007/BF00272487.
PMID:1150263
Abstract
194 cord blood samples were studied in both a fluorimetric assay and an electrophoresis method for Gal-1-PUT. From this the expected live birth incidence was 1:37000. The New Zealand neonatal screening programme has detected 5 cases in 223326 live births--an apparent incidence of 1:44600. The Beutler testing of dried blood spots collected on filter paper cards is a satisfactory method of detecting galactosaemia in the neonate.
摘要
对194份脐血样本进行了半乳糖 - 1 - 磷酸尿苷转移酶（Gal - 1 - PUT）的荧光测定法和电泳法研究。由此得出预期的活产发病率为1:37000。新西兰新生儿筛查项目在223326例活产中检测出5例——表观发病率为1:44600。对滤纸片上采集的干血斑进行的Beutler检测是检测新生儿半乳糖血症的一种令人满意的方法。
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