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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Detalhes bibliográficos
Autor principal: Couce, M.L. (author)
Outros Autores: 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)
Formato: article
Idioma:eng
Publicado em: 2014
Assuntos:
Doenças Genéticas
Texto completo:http://hdl.handle.net/10400.18/2180
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/2180

Texto Completo

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

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