先天性代谢异常
- 网络Inborn error of metabolism;inborn errors of metabolism, IEM
先天性代谢异常-
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 .
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甲基丙二酸血症是一种常染色体隐性遗传的有机酸血症，在先天性有机酸代谢异常中最为常见。
Methylmalonic acidemia is one of the most common disorders of congenital organic acid metabolism .
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紫绀型先天性心脏病脑代谢异常的磁共振质子波谱研究
~ 1H-MRS study of brain metabolic disorder in patients with cyanosed congenital heart disease