61
TITLE: THE HUMAN MEDIUM-CHAIN ACYL-COA DEHYDROGENASE P.G377V PROTEIN: A NOVEL DISEASE-CAUSING MUTANT AFFECTING MITOCHONDRIAL FATTY ACID BETA-OXIDATION
AUTHORS: Ventura, FV; Lopes, F; Louro, F; Luz, A; Ramos, R; Rocha, H; Vilarinho, L; Gaspar, A; Leandro, P ; Tavares de Almeida, IT;
PUBLISHED: 2011, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 34
INDEXED IN: WOS
62
TITLE: HETEROLOGOUS EXPRESSION OF R224G E1 alpha MUTANT FORM OF PYRUVATE DEHYDROGENASE COMPLEX  Full Text
AUTHORS: Florindo, C; Mendes, M; Pinheiro, A; Tavares de Almeida, IT; Silva, MJ; Leandro, P ; Rivera, I;
PUBLISHED: 2010, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 33
INDEXED IN: WOS
63
TITLE: IDENTIFICATION AND FUNCTIONAL CHARACTERIZATION OF A NOVEL MUTATION IN CBS GENE  Full Text
AUTHORS: Mendes, M; Salomons, GS; Tavares de Almeida; Blom, H; Rivera, I; Leandro, P ;
PUBLISHED: 2010, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 33
INDEXED IN: WOS
65
TITLE: S-ADENOSYL HOMOCYSTEINE ACCUMULATION DECREASES GLOBAL PROTEIN ARGININE METHYLATION STATUS IN CULTURED HUMAN ENDOTHELIAL CELLS  Full Text
AUTHORS: Esse, R; Rocha, MS; Barroso, M; Goncalves Jr, I; Leandro, P ; Teerlink, T; Jakobs, C; Blom, HJ; Castro, R; Tavares de Almeida, IT;
PUBLISHED: 2010, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 33
INDEXED IN: WOS
66
TITLE: Lyophilisation of human phenylalanine hydroxylase: use of additives to preserve the biological function of a human enzyme  Full Text
AUTHORS: Lino, PR; Almeida, AJ; de Almeida, IT; Leandro, P ;
PUBLISHED: 2009, SOURCE: 34th Congress of the Federation-of-European-Biochemical-Societies in FEBS JOURNAL, VOLUME: 276
INDEXED IN: WOS
67
TITLE: SCREENING FOR BH4-RESPONSIVENESS IN PORTUGUESE PKU PATIENTS  Full Text
AUTHORS: Rivera, I; Leandro, P ; Gaspar, A; Lobo L Antunes; Vilarinho, L; Tavares T de Almeida;
PUBLISHED: 2009, SOURCE: 11th International Conference of Inborn Errors of Metabolism in MOLECULAR GENETICS AND METABOLISM, VOLUME: 98, ISSUE: 1-2
INDEXED IN: WOS
68
TITLE: THE EFFECT OF LOW-MOLECULAR-WEIGHT COMPOUNDS ON THE IN VITRO POLYMERIZATION/FIBRIL FORMATION PROCESS OF MUTANT G46S-HPAH  Full Text
AUTHORS: Leandro, J; Simonsen, N; Tavares T de Almeida; Leandro, P ; Flatmark, T;
PUBLISHED: 2009, SOURCE: 11th International Conference of Inborn Errors of Metabolism in MOLECULAR GENETICS AND METABOLISM, VOLUME: 98, ISSUE: 1-2
INDEXED IN: WOS
69
TITLE: Assembly of hybrid heteroallelic mutant forms of human phenylalanine hydroxylase produced in a prokaryotic dual vector expression system  Full Text
AUTHORS: Almeida, R; Leandro, J; Cristo, I; Tavares I de Almeida; Leandro, P ;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31
INDEXED IN: WOS
70
TITLE: Interallelic complementation and phenylketonuria: Isolation of hybrid forms of human phenylalanine hydroxylase (HPAH)  Full Text
AUTHORS: Leandro, J; de Almeida I Tavares; Leandro, P ; Flatmark, T;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31
INDEXED IN: WOS
Page 7 of 10. Total results: 96.