先天性代谢病
- 网络inborn error of metabolism;inbornerrorofmetabolism
先天性代谢病-
临床症状常与Gaucher′s，病以及其他一些先天性代谢病相似。
The clinical symptoms are similar to Gaucher 's disease and other inherited metabolic disease .
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先天性遗传代谢病的早期诊断23例先天代谢病误诊分析
Early diagnosis of inborn errors of metabolism in neonatal Period Misdiagnosis Analysis of 23 Cases with Inborn Errors of Metabolism
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本方法检测先天性氨基酸代谢病简便，快速、灵敏。
The detection of congenital amino acid metabolic disease by this method is simple and easy to operate , rapid and sensitive .
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她患有苯丙酮酸尿症，这是一种先天性代谢异常病，会影响大脑发育、损伤脑部神经和损害智力。
Borsi Batki suffers from phenylketonuria ( PKU ), a metabolic disorder that if undetected , can lead to problems with brain development , progressive mental retardation , brain damage and seizures .