A simple dried blood spot-method for in vivo measurement of ureagenesis by gas chromatography-mass spectrometry using stable isotopes

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• 作者：Gabriella Allegri^a ; Sereina Deplazes^a ; Hiu Man Grisch-Chan^a ; Dé ; borah Mathis^b ; Ralph Fingerhut^a ; ^c ; Johannes Hä ; berle^a ; ^d ; Beat Thö ; ny^a ; ^d ; ^{beat.thony@kispi.uzh.ch}
• 关键词：OTC ; ornithine transcarbamylase ; GC&ndash ; MS ; gas chromatography coupled to mass spectrometry ; DBS ; dried blood spots ; UCD ; urea cycle defects ; IS ; internal standard ; adeno-associated virus 2/serotype 8 ; AAV2/8
• 刊名：Clinica Chimica Acta
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：464
• 期：Complete
• 页码：236-243
• 全文大小：823 K
• 卷排序：464

文摘

In vivo ureagenesis measurement using stable isotopes to study urea cycle and related disorders for experimental studies. The method uses [15N]ammonium chloride ([15N]H4Cl) as a tracer and minimal sample volume. Different matrices can be used, including blood plasma and dried blood spots (DBS). Different matrices can be used, including blood plasma and dried blood spots (DBS).