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- A large number of inborn errors of metabolism are known in man. 人们了解到在人类中存在大量的先天性代谢缺陷。
- Is food intolerance due to an inborn error of metabolism? 食物不耐受是天生代谢缺陷吗?
- Prenatal diagnosis of inborn error of metabolism 遗传性代谢病的产前诊断
- Neonatal screening for inborn error of metabolism 遗传性代谢病的新生儿筛查
- Diagnostic approach of inborn error of metabolism 遗传性代谢病的诊断思路
- The treatment of inborn error of metabolism 遗传性代谢病的治疗原则
- Inborn errors of metabolism shall be kept in mind when causes of the symtoms of acidosis,seisures,mental retardation and lethergy are investigated. 对于不明原因的酸中毒伴意识障碍、惊厥、发育迟滞等症状的病人。须警惕遗传代谢病。
- Diagnosis for the newborn infants with encephalopathy of inborn error of metabolism 新生儿期常见的遗传代谢性脑病
- Committee for the Study of Inborn Errors of Metabolism 先天性代谢病研究委员会
- A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China 串联质谱技术在遗传性代谢病高危儿童筛查中的初步应用
- inborn error of metabolism 先天代谢病
- History and prospect of the neonatal screening program for inborn errors of metabolism 新生儿遗传性代谢病筛查的回顾和展望
- Keywords inborn errors of metabolism;methylmalonic aciduria;urease pretreatment-gas chromatography-mass spectrometry; 遗传代谢病;甲基丙二酸尿症;尿素酶预处理-气相色谱-质谱法;
- Keywords gas chromatography mass spectrometry（GC MS）;multiple carboxylase deficiency （MCD）;inborn errors of metabolism; 气相色谱质谱法;多种羧化酶缺陷病;遗传性代谢病;
- Keywords Continuous blood purifiltration;Continuous veno-venous hemofiltration;Inborn errors of metabolism;Organic acidemia; 连续血液净化;连续静脉-静脉血液滤过;有机酸血症;先天性代谢缺陷病;
- Selective Screening of Inborn Errors of Metabolism by Urease Pretreatment-Gas Chromatography-Mass Spectrometry: Pilot Study of 327 Patients at High Risk 尿素酶预处理-气相色谱-质谱法选择性筛查遗传代谢病高危患儿327例初步研究
- inborn errors of metabolism 先天性新陈代谢不良
- Inborn error of amino acid metabolism 先天性氨基酸代谢障碍
- Inborn error of glutathione metabolism 先天性谷胱甘肽代谢缺陷症
- Inborn error of lipoprotein metabolism 先天性脂蛋白代谢紊乱
