入射(几何)
尿素循环
儿科
新生儿筛查
医学
尿素
人口学
生物
遗传学
生物化学
数学
几何学
社会学
氨基酸
精氨酸
作者
Marshall Summar,Stefan Koelker,Debra Freedenberg,Cynthia Le Mons,Johannes Häberle,Hye‐Seung Lee,Brian Kirmse
标识
DOI:10.1016/j.ymgme.2013.07.008
摘要
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 6 million 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.
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