Relevance of Expanded Neonatal Screening of Medium-Chain Acyl Co-A Dehydrogenase Deficiency: Outcome of a Decade in Galicia (Spain)

Neonatal screening of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is of major importance due to the significant morbidity and mortality in undiagnosed patients. MCADD screening has been performed routinely in Galicia since July 2000, and until now 199,943 newborns have been screened. We i...

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Detalhes bibliográficos
Main Authors: Couce, M. L., Castiñeiras, D. E., Moure, J. D., Cocho, J. A., Sánchez-Pintos, P., García-Villoria, J., Quelhas, D., Gregersen, N., Andresen, B. S., Ribes, A., Fraga, J. M.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3509827/
https://ncbi.nlm.nih.gov/pubmed/23430840
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_28
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