Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the commonest genetic defect of mitochondrial fatty acid β-oxidation. About 60% of MCADD patients are homozygous for the c.985A>G (p.Lys329Glu) mutation in the ACADM gene (G985 allele). Herein, we present the first report on the molecular...

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Detalhes bibliográficos
Autor principal: Ventura, F.V. (author)
Outros Autores: Leandro, P. (author), Luz, A. (author), Rivera, I.A. (author), Silva, M.F. (author), Ramos, R. (author), Rocha, H. (author), Lopes, A. (author), Fonseca, H. (author), Gaspar, A. (author), Diogo, L. (author), Martins, E. (author), Leão-Teles, E. (author), Vilarinho, L. (author), Tavares de Almeida, I. (author)
Formato: article
Idioma:eng
Publicado em: 2014
Assuntos:
ACADM
MCADD
Inborn Errors of Metabolism
Mitochondrial Fatty Acid β-oxidation Disorders
Newborn Screening
Doenças Genéticas
Texto completo:http://hdl.handle.net/10400.18/2144
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/2144

Texto Completo

http://hdl.handle.net/10400.18/2144

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