| Issue Date | Title | Author(s) | Type | Access Type |
| May-2018 | Characterization of pediatric patients from Portuguese FH study | Abrantes, LB.; Alves, A.C.; Medeiros, A.M.; Correia, S.; Cruz, A.; Lobarinhas, G.; Garcia, P.; Guerra, A.; Mansilha, H.; Martins, E.; Martins, P.; Salgado, J.; Bourbon, M.; on behalf of investigators of Portuguese FH study | conferenceObject |  |
| Jan-2012 | Clinical, 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. | article |  |
| 5-Apr-2013 | Liver transplantation prevents progressive neurological impairment in argininemia | Silva, E.S.; Cardoso, M.L.; Vilarinho, L.; Medina, M.; Barbot, C.; Martins, E. | article |  |
| Feb-2012 | Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands | Martins, E.; Marcão, A.; Bandeira, A.; Fonseca, H.; Nogueira, C.; Vilarinho, L. | article | |
| 10-Jul-2013 | Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency | Couce, 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, Hugo | article | |
| Sep-2013 | Novel mutation in the mitochondrial transfer RNACys gene in a child | Almeida, L.S.; Martins, E.; Santorelli, F.M.; Vilarinho, L. | conferenceObject | |
| Sep-2008 | Portuguese study of familial dilated cardiomyopathy: the FATIMA study | Martins, 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. | article | |
| 2011 | Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations | Ferreira, M.; Evangelista, T.; Almeida, L.S.; Martins, J.; Macario, M.C.; Martins, E.; Moleirinho, A.; Azevedo, L.; Vilarinho, L.; Santorelli, F.M. | article | |
| 6-Jul-2013 | Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal | Ventura, 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. | article | |
