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Amino Acids and Acylcarnitines Reference Values for Neonatal Screening of Inborn Errors of Metabolism in Colombia by Tandem Mass Spectrometry

Abstract Neonatal screening in Colombia has been carried out since 2000. The problem that most concerns is the absence of expanded screening. To stablish reference values for amino acids and acylcarnitines, in order to provide information to guide the implementation of expanded screening. Samples co...

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Autori principali: Antonio Bermúdez, Dora Robayo, Gloria Porras, María Amparo Acosta
Natura: Artigo
Lingua:Inglês
Pubblicazione: Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) 2021-06-01
Serie:Journal of Inborn Errors of Metabolism and Screening
Soggetti:
Neonatal Screening
Inborn error of metabolism
tandem mass spectrometry
cut off values
amino acids
acylcarnitines
Accesso online:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100312&tlng=en
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