Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies

BACKGROUND: Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare, life-threatening condition. Early diagnosis by screening asymptomatic newborns may improve outcome, but the benefit to newborns identified with variants not encountered clinically is uncertain. OBJECTIVE: To estimate, over...

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Detalles Bibliográficos
Autores principales: Oerton, Juliet, Khalid, Javaria M, Besley, Guy, Dalton, R Neil, Downing, Melanie, Green, Anne, Henderson, Mick, Krywawych, Steve, Leonard, James, Andresen, Brage S, Dezateux, Carol
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Royal Society of Medicine Press 2011
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3243649/
https://www.ncbi.nlm.nih.gov/pubmed/22166308
http://dx.doi.org/10.1258/jms.2011.011086

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3243649/
https://www.ncbi.nlm.nih.gov/pubmed/22166308
http://dx.doi.org/10.1258/jms.2011.011086

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