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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
20035,10-Methylenetetrahydrofolate reductase 677C - T and 1298A - C mutations are genetic determinants of elevated homocysteineCastro, R; Rivera, I; Ravasco, P; Jakobs, C; Blom, HJ; Camilo, ME; de Almeida, ITarticlerestrictedAccess
2005Biochemical characterization of chimerical mutant forms of human phenylalanine hydroxylaseNascimento, C; Coelho, C; Leandro, J; de Almeida, IT; Leandro, ParticlerestrictedAccess
2004Changes in the profile of free amino acids and biogenic amines during the extended short ripening of Portuguese dry-cured hamAlfaia, CM; Castro, MF; Reis, VA; Prates, JM; de Almeida, IT; Correia, AD; Dias, MAarticlerestrictedAccess
2005Characterization of fatty acylcarnitines in rat hepatocytes in vitroAires, CC; Ruiter, J; de Almeida, IT; Duran, M; Wanders, RJ; Silva, MFarticlerestrictedAccess
2001Characterization of plasma acylcarnitines in patients under valproate monotherapy using ESI-MS/MSSilva, MFB; Selhorst, J; Overmars, H; van Gennip, AH; Maya, M; Wanders, RJA; de Almeida, IT; Duran, MarticlerestrictedAccess
2006Co-expression of different subunits of human phenylalanine hydroxylaseLeandro, J; Nascimento, C; de Almeida, IT; Leandro, ParticlerestrictedAccess
2001Differential effect of valproate and its Delta(2)- and Delta(4)-unsaturated metabolites, on the beta-oxidation rate of long-chain and medium-chain fatty acidsSilva, MFB; Ruiter, JPN; IJlst, L; Jakobs, C; Duran, M; de Almeida, IT; Wanders, RJAarticlerestrictedAccess
2005Differential inhibitory effect of long-chain acyl-CoA esters on succinate and glutamate transport into rat liver mitochondria and its possible implications for long-chain fatty acid oxidation defectsVentura, FV; Ruiter, J; Ijlst, L; de Almeida, IT; Wanders, RJAarticlerestrictedAccess
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
2005Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardationAraujo, HC; Smit, W; Verhoeven, NM; Salomons, GS; Silva, S; Vasconcelos, R; Tomas, H; de Almeida, IT; Jakobs, C; Duran, MarticlerestrictedAccess
2000Increased free fatty acids in liver homogenate and mitochondria of ob/ob mice as a model of liver Almeida, IT; Rodrigues, D; Cortez-Pinto, H; Tenreiro, AM; Esteves, T; Camilo, MEarticlerestrictedAccess
2003Increased, homocysteine and S-adenosylhomocysteine concentrations and DNA hypomethylation in vascular diseaseCastro, R; Rivera, I; Struys, EA; Jansen, EEW; Ravasco, P; Camilo, ME; Blom, HJ; Jakobs, C; 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
2002Liver free fatty acids in human nonalcoholic steatohepatitis (NASH)de Almeida, IT; Pinto, HC; de Moura, MC; Camilo, EarticlerestrictedAccess
2001Molecular genetic analysis of the cystathionine beta-synthase gene in Portuguese homocystinuria patientsCastro, R; Heil, SG; Rivera, I; Jakobs, C; de Almeida, IT; Blom, HJarticlerestrictedAccess
2000Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type IBusquets, C; Soriano, M; de Almeida, IT; Garavaglia, B; Rimoldi, M; Rivera, I; Uziel, G; Cabral, A; Coll, MJ; Ribes, AarticlerestrictedAccess
2002Quantification of plasma S-adenosylmethionine and S-adenosylhomocysteine as their fluorescent 1,N-6-etheno derivativesCastro, R; Struys, EA; Jansen, EEW; Blom, HJ; de Almeida, IT; Jakobs, CarticlerestrictedAccess
2000Quantitative analysis of urinary acylglycines for the diagnosis of beta-oxidation defects using GC-NCI-MSCosta, CG; Guerand, WS; Struys, EA; Holwerda, U; ten Brink, HJ; de Almeida, IT; Duran, M; Jakobs, CarticlerestrictedAccess
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