Gas chromatography/mass spectrometry-based urine metabolome study in children for inborn errors of metabolism: An Indian experience

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• 作者：Dr. Mahesh H. Hampe ; ^{mahesh.hampe@preventine.com} ; Dr. Shrimant N. Panaskar ; Ashwini A. Yadav ; Dr. Pramod W. Ingale
• 关键词：Inborn errors of metabolism (IEM) ; Gas chromatography/mass spectrometry (GC/MS) ; Organic acidemia ; Aminoacidopathies ; Newborn screening
• 刊名：Clinical Biochemistry
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：50
• 期：3
• 页码：121-126
• 全文大小：504 K
• 卷排序：50

文摘

Accurate GC/MS diagnosis of urinary analytes with a simple practical procedure. Computerized algorithm for accurate identification and precise quantification. GC/MS analysis measures amino acids, organic acids and sugars simultaneously. Use of dry urine matrix for easy sample transport and precise metabolome profiling. GC/MS based urine analysis for newborn screening in India is cost effective.