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Application of mass spectrometry technique in the diagnosis of metabolic liver disease in children
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摘要: 质谱分析技术已被公认为代谢性疾病化学诊断的有用手段,气相色谱质谱连用法可以对130余种代谢疾病进行筛查和化学诊断,串联质谱法可对30余种脂肪酸代谢异常疾患和部分氨基酸代谢异常同时筛查,作为先天性代谢疾病的新生儿筛查手段被广泛的应用在世界各国。代谢性肝病涉及不同的代谢途径的紊乱,多种儿童代谢性肝病都有疾病的特征性代谢谱存在,因此通过质谱分析的代谢组学研究将会对这类疾病的临床诊断非常有用。Abstract: For the chemical diagnosis of inborn errors of metabolism (IEMs) , the technique of mass spectrometry (MS) is considered to be the most important tool.Using gas chromatograph-mass spectrometry (GC-MS) analysis, enables the simultaneous measurement of multiple categories of metabolites and offer reliable and quantitative evidence for the screening or chemical diagnosis of more than 130 IEMs.Tandem mass spectrometer (MS/MS) can measure a series of acylcarnitines and amino acids in short time.Using MS/MS analysis about 30 fatty acid disorders and amino acid disorders can be screened and also applied for neonatal screening in the world.Metabolic liver disease contains various metabolic pathway disorders.Many kinds of metabolic liver diseases in children have their characteristic metabolic profile in urine and serum, therefore MS analysis for these kinds of liver disease diagnosis is very useful clinical test method.
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Key words:
- metabolism /
- inborn errors /
- liver diseases
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为使作者了解本刊的编辑出版计划，及时惠赐稿件，《临床肝胆病杂志》编委会确定了2023年1-12期“重点号”选题及各期执行主编：
1期 扩大慢性乙型肝炎抗病毒治疗……………………………………………………………………………………………………………庄辉
2期 中医药抗肝纤维化的近期和远期目标……………………………………………………………………………………………………李秀惠
3期 肝脏病理和肝病精准诊治…………………………………………………………………………………………………………………杨永峰
4期 重视丁型肝炎病毒感染……………………………………………………………………………………………………………………庄辉
5期 肝病的细胞治疗……………………………………………………………………………………………………………………………王贵强
6期 慢性乙型肝炎及其一体化防治的中医、中西医结合治疗——从“十一五”到“十三五”的回顾与展望……………………………………………………………………………………………………………叶永安
7期 门静脉高压症的介入诊疗进展……………………………………………………………………………………………………………朱晓黎
8期 代谢相关脂肪性肝病新认识………………………………………………………………………………………………………………范建高
9期 胆道肿瘤的精准诊疗………………………………………………………………………………………………………………………曾永毅
10期 慢加急性肝衰竭的临床分型及预后评估…………………………………………………………………………………………………陈煜
11期 戊型肝炎精准诊疗新进展…………………………………………………………………………………………………………………曹红翠
12期 胰腺病相关消化不良诊治…………………………………………………………………………………………………………………傅德良
为本刊重点号的投稿请注明“***重点号投稿”字样。
对于围绕重点号选题的文章，本刊将择优优先发表。欢迎广大作者踊跃投稿。
《临床肝胆病杂志》编辑部 2023年5月20日 -
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