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AB093. A case of exogenous C5-acylcarnitine giving rise to a false positive result in newborn screening (NBS)

BACKGROUND AND OBJECTIVE: NBS Screening by MS/MS is considered an effective screening test. However, the technique cannot distinguish between isobaric compounds, thus contributing to some false positive results. One such compound is C5-acylcarnitine in the in the identification of isovaleric acidemi...

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Detalhes bibliográficos
Publicado no:Ann Transl Med
Main Authors: Yeo, Shu Jun, Tan, Ee Shien, Saumya, Jamuar, Poh, Sherry, Lim, James
Formato: Artigo
Idioma:Inglês
Publicado em: AME Publishing Company 2015
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563512/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB093
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