Browsing by Author Martins, E.

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Showing results 1 to 8 of 8
Issue DateTitleAuthor(s)TypeAccess Type
Jan-2012Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.Barbosa, M.; Lopes, A.; Mota, C.; Martins, E.; Oliveira, J.; Alves, S.; De Bonis, P.; Mota, M. do C.; Dias, Carlos Matias; Rodrigues-Santos, P.; Fortuna, A.M.; Quelhas, D.; Lacerda, L.; Bisceglia, L.; Cardoso, M.L.articlerestrictedAccess
5-Apr-2013Liver transplantation prevents progressive neurological impairment in argininemiaSilva, E.S.; Cardoso, M.L.; Vilarinho, L.; Medina, M.; Barbot, C.; Martins, E.articleopenAccess
Feb-2012Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High LandsMartins, E.; Marcão, A.; Bandeira, A.; Fonseca, H.; Nogueira, C.; Vilarinho, L.articleopenAccess
10-Jul-2013Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiencyCouce, M.L.; Sánchez-Pintos, P.; Diogo, L.; Leão-Teles, E.; Martins, E.; Santos, H.; Bueno, M.A.; Delgado-Pecellín, C.; Castiñeiras, D.E.; Cocho, J.A.; García-Villoria, J.; Ribes, A.; Fraga, J.M.; Rocha, HugoarticleopenAccess
Sep-2013Novel mutation in the mitochondrial transfer RNACys gene in a childAlmeida, L.S.; Martins, E.; Santorelli, F.M.; Vilarinho, L.conferenceObjectopenAccess
Sep-2008Portuguese study of familial dilated cardiomyopathy: the FATIMA studyMartins, E.; Silva-Cardoso, J.; Bicho, M.; Bourbon, M.; Ceia, F.; Rebocho, M.J.; Moura, B.; Fonseca, C.; Correia, M.J.; Brito, D.; Perdigão, C.; Madeira, H.; Abreu-Lima, C.articleopenAccess
2011Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutationsFerreira, M.; Evangelista, T.; Almeida, L.S.; Martins, J.; Macario, M.C.; Martins, E.; Moleirinho, A.; Azevedo, L.; Vilarinho, L.; Santorelli, F.M.articlerestrictedAccess
6-Jul-2013Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in PortugalVentura, F.V.; Leandro, P.; Luz, A.; Rivera, I.A.; Silva, M.F.; Ramos, R.; Rocha, H.; Lopes, A.; Fonseca, H.; Gaspar, A.; Diogo, L.; Martins, E.; Leão-Teles, E.; Vilarinho, L.; Tavares de Almeida, I.articleembargoedAccess