Isabel Maria Antolin Martins de Carvalho Croce Rivera


AuthID: R-000-69F

Confirmed Publications: 27



21
TITLE: Molecular genetic analysis of the cystathionine beta-synthase gene in Portuguese homocystinuria patients: three novel mutations. Letter to the Editor  Full Text
AUTHORS: Castro, R ; Heil, SG; Rivera, I ; Jakobs, C; de Almeida, IT; Blom, HJ;
PUBLISHED: 2001, SOURCE: CLINICAL GENETICS, VOLUME: 60, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID
22
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
IN MY: ORCID | ResearcherID
23
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
IN MY: ORCID | ResearcherID
24
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
IN MY: ORCID | ResearcherID
25
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
IN MY: ORCID | ResearcherID
26
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
IN MY: ORCID | ResearcherID
27
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
IN MY: ORCID
Page 3 of 3. Total results: 27.

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