尿素循环障碍的发病率。
The incidence of urea cycle disorders.
机构信息
Division of Genetics and Metabolism, Children's National Medical Center, 111 Michigan Ave. NW, Washington DC 20008, USA.
出版信息
Mol Genet Metab. 2013 Sep-Oct;110(1-2):179-80. doi: 10.1016/j.ymgme.2013.07.008. Epub 2013 Jul 18.
Abstract
A key question for urea cycle disorders is their incidence. In the United States two UCDs, argininosuccinic synthetase and lyase deficiency, are currently detected by newborn screening. We used newborn screening data on over 6million births and data from the large US and European longitudinal registries to determine how common these conditions are. The incidence for the United States is predicted to be 1 urea cycle disorder patient for every 35,000 births presenting about 113 new patients per year across all age groups.
摘要
尿素循环障碍的一个关键问题是其发病率。在美国，目前通过新生儿筛查可以检测到两种 UCD，即精氨琥珀酸合成酶和裂解酶缺乏症。我们使用了超过 600 万例新生儿筛查数据和来自美国和欧洲大型纵向登记处的数据，以确定这些疾病的常见程度。美国的发病率预计为每 35000 例新生儿中就有 1 例尿素循环障碍患者，所有年龄段每年约有 113 例新患者。
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