Isabel Maria Antolin Martins de Carvalho Croce Rivera


AuthID: R-000-69F

Confirmed Publications: 50



11
TITLE: Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells  Full Text
AUTHORS: Pinheiro, A; Silva, MJ; Pavlu Pereira, H; Florindo, C; Barroso, M; Marques, B; Correia, H; Oliveira, A; Gaspar, A; de Almeida, IT; Rivera, I ;
PUBLISHED: 2016, SOURCE: GENE, VOLUME: 591, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
12
TITLE: Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family
AUTHORS: Pinheiro, A; Silva, MJ; Pavlu Pereira, H; Florindo, C; Barroso, M; Marques, B; Correia, H; Oliveira, A; Gaspar, A; Tavares de Almeida, I; Rivera, I ;
PUBLISHED: 2016, SOURCE: Data in Brief, VOLUME: 9
INDEXED IN: Scopus CrossRef
IN MY: ORCID | CIÊNCIAVITAE
13
TITLE: Arginine functionally improves clinically relevant human galactose-1-phosphate uridylyltransferase (GALT) variants expressed in a prokaryotic model
AUTHORS: Ana I Coelho; Matilde Trabuco; Maria João Silva; Isabel Tavares de Almeida; Paula Leandro ; Isabel Rivera ; João B Vicente;
PUBLISHED: 2015, SOURCE: JIMD Reports, VOLUME: 23
INDEXED IN: Scopus CrossRef: 14
IN MY: ORCID | CIÊNCIAVITAE
14
TITLE: Functional correction by antisense therapy of a splicing mutation in the GALT gene
AUTHORS: Ana I Coelho; Silvia Lourenco; Matilde Trabuco; Maria Joao Silva; Anabela Oliveira; Ana Gaspar; Luisa Diogo; Isabel Tavares de Almeida; Joao B Vicente; Isabel Rivera ;
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
15
16
TITLE: The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders  Full Text
AUTHORS: Sperl, W; Fleuren, L; Freisinger, P; Haack, T; Ribes, A; Feichtinger, R; Rodenburg, R; Zimmermann, F; Koch, J; Rivera, I ; Prokisch, H; Smeitink, J; Mayr, J;
PUBLISHED: 2015, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 38, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
17
TITLE: A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal  Full Text
AUTHORS: Ana I Coelho; Ruben Ramos; Ana Gaspar; Claudia Costa; Anabela Oliveira; Luisa Diogo; Paula Garcia; Sandra Paiva; Esmeralda Martins ; Elisa Leao Teles; Esmeralda Rodrigues; Teresa Cardoso, MT; Elena Ferreira; Silvia Sequeira; Margarida Leite; Maria Joao Silva; Isabel Tavares de Almeida; Joao B Vicente ; Isabel Rivera ;
PUBLISHED: 2014, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 37, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
18
TITLE: Functional and structural impact of the most prevalent missense mutations in classic galactosemia
AUTHORS: Ana I Coelho; Matilde Trabuco; Ruben Ramos; Maria João Silva; Isabel Tavares de Almeida; Paula Leandro ; Isabel Rivera ; João B Vicente;
PUBLISHED: 2014, SOURCE: Molecular Genetics and Genomic Medicine, VOLUME: 2, ISSUE: 6
INDEXED IN: Scopus CrossRef
IN MY: ORCID | CIÊNCIAVITAE
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TITLE: Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients  Full Text
AUTHORS: Mendes, MIS; Colaco, HG; Smith, DEC; Ramos, RJJF; Pop, A; van Dooren, SJM; de Almeida, IT; Kluijtmans, LAJ; Janssen, MCH; Rivera, I ; Salomons, GS; Leandro, P ; Blom, HJ;
PUBLISHED: 2014, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 37, ISSUE: 2
INDEXED IN: Scopus WOS
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
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