71
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
72
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
73
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
74
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
75
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
76
TITLE: Molecular analysis of medium-chain acyl-CoA dehydrogenase deficiency in Portugal  Full Text
AUTHORS: Luz, A; Violante, S; Gaspar, A; Antunes M Lobo; Rivera, IA; Silva, MFB; Ramos, A; Rocha, H; Sousa, C; Marcao, A; Fonseca, H; Ventura, FV; Leandro, P; Vilarinho, L; de Almeida Tavares;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31
INDEXED IN: WOS
77
TITLE: PAH deficiency in Portugal: Identification of potential BH4-responsive patients  Full Text
AUTHORS: Rivera, I; Leandro, P; Queiros, A; Gaspar, A; Antunes M Lobo; Vilarinho, L; de Almeida Tavares;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31
INDEXED IN: WOS
78
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
79
TITLE: Studies on the interaction of mutant forms of human phenylalanine hydroxylase with molecular chaperones  Full Text
AUTHORS: Cristo, I; Almeida, R; Leandro, J; de Almeida Tavares; Leandro, P;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31
INDEXED IN: WOS
80
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 8 of 10. Total results: 93.