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Repositório Científico do Instituto Nacional de Saúde >
Browsing by Author Vilarinho, L.
Showing results 4 to 12 of 12
| Issue Date | Title | Author(s) | | 2012 | Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening | Vilarinho, L.; Sales Marques, J.; Rocha, H.; Ramos, A.; Lopes, L.; Narayan, S.B.; Bennett, M.J. |
| Jun-2012 | "Double trouble” or digenic disorder in Complex I deficiency | Almeida, L.S.; Ferreira, M.; Nogueira, C.; Furtado, F.; Evangelista, T.; Santorelli, F.M.; Vilarinho, L. |
| 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. |
| Nov-2010 | Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency | Urreizti, R.; Moya-García, A. A.; Pino-Ángeles, A.; Cozar, M.; Langkilde, A.; Fanhoe, U.; Esteves, C.; Arribas, J.; Vilaseca, M.A.; Pérez-Dueñas, B.; Pineda, M.; González, V.; Artuch, R.; Baldellou, A.; Vilarinho, L.; Fowler, B.; Ribes, A.; Sánchez-Jiménez, F.; Grinberg, D.; Balcells, S. |
| 2011 | Molecular investigation of pediatric portuguese patients with sensorineural hearing loss | Nogueira, C.; Coutinho, M.; Pereira, C.; Tessa, A.; Santorelli, F.M.; Vilarinho, L. |
| 2012 | Mutations at the flavin binding site of ETF:QO yield a MADD-like severe phenotype in Drosophila | Alves, E.; Henriques, B.J.; Rogrigues, J.V.; Prudêncio, P.; Rocha, H.; Vilarinho, L.; Martinho, R.G.; Gomes, C.M. |
| 2012 | Nuclear-Mitochondrial Intergenomic Communication Disorders | Almeida, L.S.; Nogueira, C.; Vilarinho, L. |
| 2011 | Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1 | Ferreira, M.; Torraco, A.; Rizza, T.; Fattori, F.; Meschini, M.C.; Castana, C.; Go, N.E.; Nargang, F.E.; Duarte, M.; Piemonte, F.; Dionisi-Vici, C.; Videira, A.; Vilarinho, L.; Santorelli, F.M.; Carrozzo, R.; Bertini, E. |
| 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. |
Showing results 4 to 12 of 12
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