Repositório Científico do Instituto Nacional de Saúde: Browsing DSpace

Issue Date	Title	Author(s)
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.
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.
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
Sep-2013	Novel mutation in the mitochondrial transfer RNACys gene in a child	Almeida, L.S.; Martins, E.; Santorelli, F.M.; Vilarinho, L.
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.
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.
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.

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