Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency

BACKGROUND: Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited defect in the mitochondrial fatty acid oxidation pathway, resulting in significant morbidity and mortality in undiagnosed patients.Newborn screening (NBS) has considerably improved MCADD outcome, but the...

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Bibliographic Details
Main Author: Couce, M.L. (author)
Other Authors: Sánchez-Pintos, P. (author), Diogo, L. (author), Leão-Teles, E. (author), Martins, E. (author), Santos, H. (author), Bueno, M.A. (author), Delgado-Pecellín, C. (author), Castiñeiras, D.E. (author), Cocho, J.A. (author), García-Villoria, J. (author), Ribes, A. (author), Fraga, J.M. (author), Rocha, Hugo (author)
Format: article
Language:eng
Published: 2014
Subjects:
Doenças Genéticas
Online Access:http://hdl.handle.net/10400.18/2180
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/2180

Internet

http://hdl.handle.net/10400.18/2180

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