Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias
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- 作者：Sabrina Malvagiaa ; 1 ; Christopher A. Haynesb ; 1 ; Laura Grisottoc ; Daniela Ombronea ; Silvia Funghinia ; Elisa Morettid ; Kathleen S. McGreevye ; Annibale Biggeric ; Renzo Guerrinif ; Raquel Yahyaouig ; Uttam Gargh ; Mary Seeterlini ; Donald Chacej ; Victor R. De Jesusb ; Giancarlo la Marcaa ; g.lamarca@meyer.it" class="auth_mail" title="E-mail the corresponding author ; giancarlo.lamarca@unifi.it" class="auth_mail" title="E-mail the corresponding author
- 关键词：C16 ; 1-OH ; 3-hydroxypalmitoleoyl-carnitine ; PA ; propionic acidemia ; MMA ; methylmalonic acidemia ; LCHADD ; long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ; TFP ; trifunctional protein deficiency ; DBS ; dried blood spot ; C17 ; heptadecanoylcarnitine ; C3 ; propionylcarnitine ; C3/C2 ; propionylcarnitine/acetylcarnitine ; C3/C16 ; propionylcarnitine/palmitoylcarnitine ; C3/Met ; propionylcarnitine/methionine ; 2nd TT ; second-tier test ; NBS ; newborn screening ; MRM ; multiple reaction monitoring ; HCD ; higher
- 刊名：Clinica Chimica Acta
- 出版年：2015
- 出版时间：23 October 2015
- 年：2015
- 卷：450
- 期：Complete
- 页码：342-348
- 全文大小：428 K
文摘
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A new metabolite C17 acylcarnitine is suggestive for the diagnosis of propionate metabolism defects.
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We investigate the prognostic value of this new biomarker for improving the sensitivity and the specificity of NBS.
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C17 can distinguish negative newborn specimen results from positive ones better than other parameters previously used.