Isabel Maria Antolin Martins de Carvalho Croce Rivera


AuthID: R-000-69F

Confirmed Publications: 50



1
TITLE: Dihydrolipoamide dehydrogenase, pyruvate oxidation, and acetylation-dependent mechanisms intersecting drug iatrogenesis  Full Text
AUTHORS: Duarte, IF; Caio, J; Moedas, MF; Rodrigues, LA; Leandro, AP ; Rivera, IA ; Silva, MFB;
PUBLISHED: 2021, SOURCE: CELLULAR AND MOLECULAR LIFE SCIENCES, VOLUME: 78, ISSUE: 23
INDEXED IN: Scopus WOS CrossRef: 12
IN MY: ORCID | CIÊNCIAVITAE
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3
TITLE: Structural and functional impact of clinically relevant E1α variants causing pyruvate dehydrogenase complex deficiency  Full Text
AUTHORS: Hana Pavlu-Pereira; Diana Lousa; Catarina S Tomé; Cristina Florindo; Maria João Silva; Isabel Tavares de Almeida; Paula Leandro ; Isabel Rivera ; João B Vicente;
PUBLISHED: 2021, SOURCE: Biochimie, VOLUME: 183
INDEXED IN: CrossRef: 11
IN MY: ORCID | CIÊNCIAVITAE
4
TITLE: Galactokinase deficiency: lessons from the GalNet registry
AUTHORS: Rubio Gozalbo, ME; Derks, B; Das, AM; Meyer, U; Moslinger, D; Couce, ML; Empain, A; Ficicioglu, C; Palacios, NJ; De Pelegrin, MMD; Rivera, IA ; Scholl Burgi, S; Bosch, AM; Cassiman, D; Demirbas, D; Gautschi, M; Knerr, I; Labrune, P; Skouma, A; Verloo, P; Wortmann, SB; Treacy, EP; Timson, DJ; Berry, GT; ...More
PUBLISHED: 2020, SOURCE: GENETICS IN MEDICINE, VOLUME: 23, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 13
IN MY: ORCID | CIÊNCIAVITAE
5
TITLE: Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients  Full Text
AUTHORS: Pavlu Pereira, H; Silva, MJ; Florindo, C; Sequeira, S; Ferreira, AC; Duarte, S; Rodrigues, AL; Janeiro, P; Oliveira, A; Gomes, D; Bandeira, A; Martins, E ; Gomes, R; Soares, S; de Almeida, IT; Vicente, JB; Rivera, I ;
PUBLISHED: 2020, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 15, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID | CIÊNCIAVITAE
6
TITLE: Darier disease: first molecular study of a Portuguese family
AUTHORS: Almeida, A; Lobo, MD; Moura, C; Rivera, I ;
PUBLISHED: 2019, SOURCE: HELIYON, VOLUME: 5, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID | CIÊNCIAVITAE
7
TITLE: Homocysteine Metabolism in Children and Adolescents: Influence of Age on Plasma Biomarkers and Correspondent Genotype Interactions  Full Text
AUTHORS: Caldeira Araújo, H; Ramos, R; Florindo, C; Rivera, I ; Castro, R; Tavares de Almeida, I;
PUBLISHED: 2019, SOURCE: Nutrients, VOLUME: 11, ISSUE: 3
INDEXED IN: Scopus CrossRef: 18
IN MY: ORCID | CIÊNCIAVITAE
8
TITLE: The natural history of classic galactosemia: lessons from the GalNet registry  Full Text
AUTHORS: Rubio Gozalbo, ME; Haskovic, M; Bosch, AM; Burnyte, B; Coelho, AI; Cassiman, D; Couce, ML; Dawson, C; Demirbas, D; Derks, T; Eyskens, F; Forga, MT; Grunewald, S; Haberle, J; Hochuli, M; Hubert, A; Huidekoper, HH; Janeiro, P; Kotzka, J; Knerr, I; Labrune, P; Landau, YE; Langendonk, JG; Moeslinger, D; Mueller Wieland, D; Murphy, E; Ounap, K; Ramadza, D; Rivera, IA ; Scholl Buergi, S; Stepien, KM; Thijs, A; Tran, C; Vara, R; Visser, G; Vos, R; de Vries, M; Waisbren, SE; Welsink Karssies, MM; Wortmann, SB; Gautschi, M; Treacy, EP; Berry, GT; ...More
PUBLISHED: 2019, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 14, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 84
IN MY: ORCID | CIÊNCIAVITAE
9
TITLE: Molecular basis and clinical presentation of classic galactosemia in a Croatian population
AUTHORS: Ramadza, DP; Sarnavka, V; Vukovic, J; Fumic, K; Krzelj, V; Lozic, B; Puseljic, S; Pereira, H; Silva, MJ; de Almeida, IT; Baric, I; Rivera, I ;
PUBLISHED: 2018, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 31, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 4
IN MY: ORCID | CIÊNCIAVITAE
10
TITLE: Sweet and sour: an update on classic galactosemia  Full Text
AUTHORS: Coelho, AI; Rubio Gozalbo, ME; Vicente, JB; Rivera, I ;
PUBLISHED: 2017, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 40, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 90
IN MY: ORCID | CIÊNCIAVITAE
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