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Resultados 1-10 de 59.
Registos:
DataTítuloAutor(es)TipoAcesso
2000The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patientsRivera, I; Cabral, A; Almeida, M; Leandro, P; Carmona, C; Eusebio, F; Tasso, T; Vilarinho, L; Martins, E; Lechner, MC; de Almeida, IT; Konecki, DS; Lichter-Konecki, UarticlerestrictedAccess
2008Molecular analysis of medium-chain acyl-CoA dehydrogenase deficiency in PortugalLuz, A.; Violante, S.; Gaspar, A.; Lobo, Antunes M.; Rivera, I. A.; Silva, M. F. B.; Ramos, A.; Rocha, H.; Sousa, C.; Marcao, A.; Fonseca, H.; Ventura, F. V.; Leandro, P.; Vilarinho, L.; Tavares, de Almeida,articlerestrictedAccess
2001Glycerol increases the yield and activity of human phenylalanine hydroxylase mutant enzymes produced in a prokaryotic expression systemLeandro, P; Lechner, MC; de Almeida, IT; Konecki, DarticlerestrictedAccess
2000The V388M mutation results in a kinetic variant form of phenylalanine hydroxylaseLeandro, P; Rivera, I; Lechner, MC; de Almeida, IT; Konecki, DarticlerestrictedAccess
2007Folding rescue of mild PKU mutations by chemical chaperonesNascimento, C.; Botelho, H. M.; Tavares De Almeida, I; Gomes, C. M.; Leandro, P.articlerestrictedAccess
2009SCREENING FOR BH4-RESPONSIVENESS IN PORTUGUESE PKU PATIENTSRivera, I.; Leandro, P.; Gaspar, A.; Antunes, M. Lobo; Vilarinho, L.; de Almeida, I. TavaresarticlerestrictedAccess
2007Modification of phenylalanine hydroxylase by site-directed mutagenesisNascimento, C.; Coelho, C.; Acosta, C.; Oliveira, C.; Tavares de Almeida, I; Leandro, P.articlerestrictedAccess
20045,10-methylenetetrahydrofolate reductase (MTHFR) 677C - T and 1298A - C mutations are associated with DNA hypomethylationCastro, R; Rivera, I; Ravasco, P; Camilo, ME; Jakobs, C; Blom, HJ; de Almeida, ITarticlerestrictedAccess
2005Intracellular S-adenosylhomocysteine increased levels are associated with DNA hypomethylation in HUVECCastro, R; Rivera, I; Martins, C; Struys, EA; Jansen, EEW; Clode, N; Graca, LM; Blom, HJ; Jakobs, C; de Almeida, ITarticlerestrictedAccess
2009HUMAN TESTIS-SPECIFIC PDHA2 GENERivera, I.; Pinheiro, A.; Faustino, I.; Silva, M. J.; Sa, R.; Sousa, M.; Barros, A.; de Almeida, I. TavaresarticlerestrictedAccess