inborn error of metabolism

prenatal diagnosis of inborn error of metabolism

遗传性代谢病的产前诊断

Objective To improve the pediatrician's knowledge of the relationship between the symptom of coma, ketoacidosis and inborn error of metabolism through the summary of three cases of methylmalonic acidemia ( MMA) with initial symptom of coma.

目的通过对3例以昏迷为主诉而入院的甲基丙二酸血症（MMA）患儿的临床治疗及生化学监测的分析，提高儿科医生对昏迷、酸中毒与遗传代谢性疾病的关系的认识。

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

neonatal screening for inborn error of metabolism

遗传性代谢病的新生儿筛查

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

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

is food intolerance due to an inborn error of metabolism ?

食物不耐受是天生代谢缺陷吗？。

A study on the test and diagnosis of inborn error of metabolism by haematological cytochemistry

血液细胞化学用于先天性代谢缺陷患者及携带者的检出与诊断的研究