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对高危儿童的先天代谢异常筛查:对中国浙江省的一项飞行研究 Screening for inborn errors of metabolism in high-risk childrenAbstract Background: Tandem mass spectrometry (MS/MS) has been available in China for 8 years. This technique makes it possible to screen for a wide range of previously unscreened inborn errors of metabolism (IEM) using a single test.This 3-year pilot study investigated the screening, diagnosis, treatment and outcomes of IEM in symptomatic infants and children Methods: All children encountered in the Newborn Screening Center of Zhejiang Province during a 3-year period with symptoms suspicious for IEM were screened for metabolic diseases. Dried blood spots were collected and analyzed by tandem mass spectrometry. The diagnoses were further confirmed by clinical symptoms and biochemical analysis. Neonatal intrahepatic cholestasis caused by citrin deficiency, ornithine transcarbamylase deficiency and primary carnitine deficiency were confirmed by DNA analysis. 详情请点击下载PDF文件。 |
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