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. (author)
Outros Autores: Sánchez-Pintos, P. (author), Diogo, L. (author), Leão-Teles, E. (author), Martins, E. (author), Santos, H. (author), Amor Bueno, M. (author), Delgado-Pecellín, C. (author), Castiñeiras, D. (author), Cocho, J. (author), García-Villoria, J. (author), Ribes, A. (author), Fraga, J. (author), Rocha, H (author)
Formato: article
Idioma:eng
Publicado em: 2014
Assuntos:
L-carnitine
Metabolic decompensation
Mitochondrial fatty acid oxidation
Mutations
Newborn screening
Rare disease
Texto completo:http://hdl.handle.net/10400.16/1693
País:Portugal
Oai:oai:repositorio.chporto.pt:10400.16/1693

Texto Completo

http://hdl.handle.net/10400.16/1693

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