Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns

Frédéric M Vaz, Youssra Jamal, Rob Barto,Michael H Gelb,Andrea E DeBarber,Ron A Wevers,Marcel R Nelen,Aad Verrips,Albert H Bootsma,Marelle J Bouva, Nick Kleise, Walter van der Zee, Tao He, Gajja S Salomons,Hidde H Huidekoper

Clinica Chimica Acta（2023）

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摘要

•CTX newborn screening is possible using only metabolite ratios.•Screening of 20,076 deidentified newborn blood spots showed no CTX screen positives.•CTX newborn screening is possible using either FIA-MS/MS or UPLC-MS/MS.

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关键词

Cerebrotendinous Xanthomatosis,Newborn screening,Tandem mass spectrometry,Metabolite ratios

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