41
TITLE: 5,10-Methylenetetrahydrofolate reductase 677C -> T and 1298A -> C mutations are genetic determinants of elevated homocysteine
AUTHORS: Castro, R ; Rivera, I ; Ravasco, P; Jakobs, C; Blom, HJ; Camilo, ME; de Almeida, IT ;
PUBLISHED: 2003, SOURCE: QJM-AN INTERNATIONAL JOURNAL OF MEDICINE, VOLUME: 96, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
42
TITLE: Increased, homocysteine and S-adenosylhomocysteine concentrations and DNA hypomethylation in vascular disease
AUTHORS: Castro, R ; Rivera, I ; Struys, EA; Jansen, EEW; Ravasco, P; Camilo, ME; Blom, HJ; Jakobs, C; de Almeida, IT ;
PUBLISHED: 2003, SOURCE: CLINICAL CHEMISTRY, VOLUME: 49, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef
44
TITLE: Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I  Full Text
AUTHORS: Busquets, C; Soriano, M; de Almeida, IT ; Garavaglia, B; Rimoldi, M; Rivera, I ; Uziel, G; Cabral, A; Coll, MJ; Ribes, A;
PUBLISHED: 2000, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 71, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
45
TITLE: The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients  Full Text
AUTHORS: Rivera, 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, U;
PUBLISHED: 2000, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 69, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
46
TITLE: The V388M mutation results in a kinetic variant form of phenylalanine hydroxylase  Full Text
AUTHORS: Leandro, P ; Rivera, I ; Lechner, MC; de Almeida, IT ; Konecki, D;
PUBLISHED: 2000, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 69, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
47
TITLE: Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal
AUTHORS: Rivera, I ; Leandro, P ; Lichter Konecki, U; de Almeida, IT ; Lechner, MC;
PUBLISHED: 1998, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 35, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
48
TITLE: MUTATION ANALYSIS OF PHENYLKETONURIA IN SOUTH AND CENTRAL PORTUGAL - PREVELANCE OF V388M MUTATION
AUTHORS: LEANDRO, P ; RIVERA, I ; RIBEIRO, V ; DEALMEIDA, IT ; DASILVEIRA, CL; LECHNER, MC;
PUBLISHED: 1995, SOURCE: HUMAN MUTATION, VOLUME: 6, ISSUE: 2
INDEXED IN: Scopus WOS
49
TITLE: Mutation Analysis of phenylketonuria in South and Central Portugal: Prevalence of V388M mutation
AUTHORS: Paula Leandro ; Isabel Rivera ; Vera Ribeiro ; Isabel Tavares de Almeida; Carlos da Silveira; Maria Celeste Lechner;
PUBLISHED: 1995, SOURCE: Human Mutation - Hum. Mutat., VOLUME: 6, ISSUE: 2
INDEXED IN: CrossRef
50
TITLE: A single HPLC system for the evaluation of purine and pyrimidine metabolites in body fluids
AUTHORS: Rivera, IA ; De Almeida, IT ; Silveira, C;
PUBLISHED: 1991, SOURCE: Advances in Experimental Medicine and Biology, VOLUME: 309, ISSUE: Part B
INDEXED IN: Scopus
Page 5 of 5. Total results: 50.