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Isabel Maria Antolin Martins-de-Carvalho. Completed the Título de Agregado in n/a in 2017 by Universidade de Lisboa Faculdade de Farmácia, Doutoramento in Farmácia in 1998/12/22 by Universidade de Lisboa Faculdade de Farmácia and Licenciatura in Farmácia in 1980 by Universidade de Lisboa Faculdade de Farmácia. Is Assistant Professor with Habilitation in Universidade de Lisboa Faculdade de Farmácia and Research at Instituto de Investigação do Medicamento (iMed.ULisboa) da Universidade de Lisboa. Member of Metabolism&Genetics group in Universidade de Lisboa Faculdade de Farmácia. Published 2 book chpaters and 47 articles in peer-reviewed journals. Has received 7 awards and/or honors. Participates and/or participated as Supervisor in 4 project(s). Works in the area(s) of Medical and Health Sciences with emphasis on Health Sciences. In her curriculum Ciência Vitae the most frequent terms in the context of scientific, technological and artistic-cultural output are: Gene expression and regulation; Metabolic interactions; Pyruvate Dehydrogenase Complex: regulatory mechanisms of gene expression; Hyperhomocysteinemia and vascular disease: mechanisms of pathogenicity; Genetic polymorphisms and susceptibility to disease; Splicing mutations and genetic disease; Alternative therapies based on chaperones and mRNA; Phenylketonuria; Classic Galactosemia.
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Identificação

Identificação pessoal

Nome completo
Isabel Maria Antolin Martins-de-Carvalho

Nomes de citação

  • Rivera, Isabel

Identificadores de autor

Ciência ID
A21B-E6CB-8C55
ORCID iD
0000-0001-6892-729X
Researcher Id
A-5863-2014
Scopus Author Id
7004389683

Endereços de correio eletrónico

  • iarivera@ff.ulisboa.pt (Profissional)

Telefones

Fax
  • 217946491 (Profissional)
Telefone
  • 217946491 (Profissional)

Moradas

  • Instituto de Investigação do Medicamento (iMed.ULisboa) - Research Institute for Medicines (iMed.ULisboa). Faculdade Farmácia Universidade Lisboa - Av. Prof. Gama Pinto, 1649-003, Lisboa, Lisboa, Portugal (Profissional)

Domínios de atuação

  • Ciências Médicas e da Saúde - Ciências da Saúde

Idiomas

Idioma Conversação Leitura Escrita Compreensão Peer-review
Inglês Utilizador proficiente (C1) Utilizador proficiente (C2) Utilizador proficiente (C2) Utilizador proficiente (C1)
Francês Utilizador independente (B1) Utilizador proficiente (C1) Utilizador independente (B2) Utilizador independente (B2)
Espanhol; Castelhano Utilizador independente (B1) Utilizador proficiente (C1) Utilizador elementar (A1) Utilizador independente (B1)
Formação
Grau Classificação
2017 - 2017
Concluído
 n/a (Título de Agregado)
Universidade de Lisboa Faculdade de Farmácia, Portugal
"Doenças raras e investigação translacional: o complexo da piruvato desidrogenase como modelo" (TESE/DISSERTAÇÃO)
 Aprovada por unanimidade
1998/12/22
Concluído
 Farmácia (Doutoramento)
Universidade de Lisboa Faculdade de Farmácia, Portugal
"Estudo do polimorfismo do gene PAH numa população Portuguesa. Determinação da correlação entre genótipo e fenótipo em doentes hiperfenilalaninémicos" (TESE/DISSERTAÇÃO)
 Distinção e Louvor
1980
Concluído
 Farmácia (Licenciatura)
Universidade de Lisboa Faculdade de Farmácia, Portugal
 Bom com Distinção (16 valores)
Percurso profissional

Docência no Ensino Superior

Categoria Profissional
Instituição de acolhimento 		Empregador
2017/05/23 - 2023 Professor Auxiliar (Docente Universitário) Universidade de Lisboa Faculdade de Farmácia, Portugal
1998/12/22 - 2017 Professor Auxiliar (Docente Universitário) Universidade de Lisboa Faculdade de Farmácia, Portugal
1990 - 1998 Assistente (Docente Universitário) Universidade de Lisboa Faculdade de Farmácia, Portugal
1986 - 1990 Assistente Estagiário (Docente Universitário) Universidade de Lisboa Faculdade de Farmácia, Portugal

Outros

Categoria Profissional
Instituição de acolhimento 		Empregador
2007/01/01 - Atual Research at Instituto de Investigação do Medicamento (iMed.ULisboa) da Universidade de Lisboa. Member of Metabolism&Genetics group Universidade de Lisboa Faculdade de Farmácia, Portugal
2000 - 2011 Membro da Assembleia de Representantes Universidade de Lisboa Faculdade de Farmácia, Portugal
2001 - 2003 Coordenadora do Subgrupo de Bioquímica Universidade de Lisboa Faculdade de Farmácia, Portugal
2001 - 2003 Membro do Comissão Coordenadora do Conselho Científico Universidade de Lisboa Faculdade de Farmácia, Portugal
Projetos

Bolsa

Designação Financiadores
2017 - 2019 Next-generation sequencing for the molecular characterization of pyruvate dehydrogenase complex deficiency due to primary and secondary causes.
XXX
Orientador
Concluído
2011 - 2012 Galactosémia clássica: caraterização funcional de mutações de splicing e sua modulação por sondas anti-sense
XXX
Orientador
Concluído
2004 - 2009 Somatic expression of PDHA2 gene: a long dreamed therapy
POCI/SAU-MMO/57052/2004
Orientador
Universidade de Lisboa Faculdade de Farmácia, Portugal
Concluído

Projeto

Designação Financiadores
2010 - 2011 Genotypic background of Portuguese PKU population
XXX
Orientador
Universidade de Lisboa Faculdade de Farmácia, Portugal
Concluído
Produções

Publicações

Artigo em revista
  1. I. F. Duarte; J. Caio; M. F. Moedas; L. A. Rodrigues; A. P. Leandro; I. A. Rivera; M. F. B. Silva. "Dihydrolipoamide dehydrogenase, pyruvate oxidation, and acetylation-dependent mechanisms intersecting drug iatrogenesis". Cellular and Molecular Life Sciences (2021): https://doi.org/10.1007/s00018-021-03996-3.
    10.1007/s00018-021-03996-3
  2. Pavlu-Pereira, H.; Lousa, D.; Tomé, C.S.; Florindo, C.; Silva, M.J.; de Almeida, I.T.; Leandro, P.; Rivera, I.; Vicente, J.B.. "Structural and functional impact of clinically relevant E1a variants causing pyruvate dehydrogenase complex deficiency". Biochimie 183 (2021): 78-88. http://www.scopus.com/inward/record.url?eid=2-s2.0-85101382332&partnerID=MN8TOARS.
    10.1016/j.biochi.2021.02.007
  3. Pavlu-Pereira, Hana; Silva, Maria João; Florindo, Cristina; Sequeira, Sílvia; Ferreira, Ana Cristina; Duarte, Sofia; Rodrigues, Ana Luísa; et al. "Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients". Orphanet Journal of Rare Diseases 15 1 (2020): http://dx.doi.org/10.1186/s13023-020-01586-3.
    Publicado • 10.1186/s13023-020-01586-3
  4. Rubio-Gozalbo, M. Estela; Derks, Britt; Das, Anibh Martin; Meyer, Uta; Möslinger, Dorothea; Couce, M. Luz; Empain, Aurélie; et al. "Galactokinase deficiency: lessons from the GalNet registry". Genetics in Medicine 23 1 (2020): 202-210. http://dx.doi.org/10.1038/s41436-020-00942-9.
    Publicado • 10.1038/s41436-020-00942-9
  5. Rubio-Gozalbo, M. E.; Haskovic, M.; Bosch, A. M.; Burnyte, B.; Coelho, A. I.; Cassiman, D.; Couce, M. L.; et al. "The natural history of classic galactosemia: lessons from the GalNet registry". Orphanet Journal of Rare Diseases 14 1 (2019): http://dx.doi.org/10.1186/s13023-019-1047-z.
    Publicado • 10.1186/s13023-019-1047-z
  6. Rivera, Isabel. "Homocysteine Metabolism in Children and Adolescents: Influence of Age on Plasma Biomarkers and Correspondent Genotype Interactions". Nutrients 11 3 (2019):
    Publicado
  7. Almeida, A.; Lobo, M.D.L.; Moura, C.; Rivera, I.. "Darier disease: first molecular study of a Portuguese family". Heliyon 5 9 (2019): http://www.scopus.com/inward/record.url?eid=2-s2.0-85072599985&partnerID=MN8TOARS.
    10.1016/j.heliyon.2019.e02520
  8. Caldeira-Araújo, H.; Ramos, R.; Florindo, C.; Rivera, I.; Castro, R.; de Almeida, I.T.. "Homocysteine metabolism in children and adolescents: Influence of age on plasma biomarkers and correspondent genotype interactions". Nutrients 11 3 (2019): http://www.scopus.com/inward/record.url?eid=2-s2.0-85063277926&partnerID=MN8TOARS.
    10.3390/nu11030646
  9. Ramadza, D.P.; Sarnavka, V.; Vukovic, J.; Fumic, K.; Krzelj, V.; Lozic, B.; Pušeljic, S.; et al. "Molecular basis and clinical presentation of classic galactosemia in a Croatian population". Journal of Pediatric Endocrinology and Metabolism 31 1 (2018): 71-75. http://www.scopus.com/inward/record.url?eid=2-s2.0-85039045821&partnerID=MN8TOARS.
    10.1515/jpem-2017-0302
  10. Coelho, A.I.; Rubio-Gozalbo, M.E.; Vicente, J.B.; Rivera, I.. "Sweet and sour: an update on classic galactosemia". Journal of Inherited Metabolic Disease 40 3 (2017): 325-342. http://www.scopus.com/inward/record.url?eid=2-s2.0-85014627843&partnerID=MN8TOARS.
    10.1007/s10545-017-0029-3
  11. Pinheiro, A.; Silva, M.J.; Pavlu-Pereira, H.; Florindo, C.; Barroso, M.; Marques, B.; Correia, H.; et al. "Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family". Data in Brief 9 (2016): 68-77. http://www.scopus.com/inward/record.url?eid=2-s2.0-85030559177&partnerID=MN8TOARS.
    10.1016/j.dib.2016.08.029
  12. Pinheiro, A.; Silva, M.J.; Pavlu-Pereira, H.; Florindo, C.; Barroso, M.; Marques, B.; Correia, H.; et al. "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". Gene 591 2 (2016): 417-424. http://www.scopus.com/inward/record.url?eid=2-s2.0-84979686924&partnerID=MN8TOARS.
    10.1016/j.gene.2016.06.041
  13. Sperl, W.; Fleuren, L.; Freisinger, P.; Haack, T.B.; Ribes, A.; Feichtinger, R.G.; Rodenburg, R.J.; et al. "The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders". Journal of Inherited Metabolic Disease 38 3 (2015): 391-403. http://www.scopus.com/inward/record.url?eid=2-s2.0-84939966297&partnerID=MN8TOARS.
    10.1007/s10545-014-9787-3
  14. Coelho, A.I.; Lourenço, S.; Trabuco, M.; Silva, M.J.; Oliveira, A.; Gaspar, A.; Diogo, L.; et al. "Functional correction by antisense therapy of a splicing mutation in the GALT gene". European Journal of Human Genetics 23 4 (2015): 500-506. http://www.scopus.com/inward/record.url?eid=2-s2.0-84924662463&partnerID=MN8TOARS.
    10.1038/ejhg.2014.149
  15. Mendes, M.I.S.; Smith, D.E.C.; Vicente, J.B.; De Almeida, I.T.; Ben-Omran, T.; Salomons, G.S.; Rivera, I.A.; et al. "Small aminothiol compounds improve the function of Arg to Cys variant proteins: Effect on the human cystathionine ß-synthase p.R336C". Human Molecular Genetics 24 25 (2015): 7339-7348. http://www.scopus.com/inward/record.url?eid=2-s2.0-84959191509&partnerID=MN8TOARS.
    10.1093/hmg/ddv431
  16. Coelho, A.I.; Trabuco, M.; Silva, M.J.; de Almeida, I.T.; Leandro, P.; Rivera, I.; Vicente, J.B.. "Arginine functionally improves clinically relevant human galactose-1-phosphate uridylyltransferase (GALT) variants expressed in a prokaryotic model". 23 (2015): 1-6. http://www.scopus.com/inward/record.url?eid=2-s2.0-84983550060&partnerID=MN8TOARS.
    10.1007/8904_2015_420
  17. Coelho, A.I.; Ramos, R.; Gaspar, A.; Costa, C.; Oliveira, A.; Diogo, L.; Garcia, P.; et al. "A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal". Journal of Inherited Metabolic Disease 37 1 (2014): 43-52. http://www.scopus.com/inward/record.url?eid=2-s2.0-84891753430&partnerID=MN8TOARS.
    10.1007/s10545-013-9623-1
  18. Mendes, M.I.S.; Santos, A.S.; Smith, D.E.C.; Lino, P.R.; Colaço, H.G.; de Almeida, I.T.; Vicente, J.B.; et al. "Insights into the Regulatory Domain of Cystathionine Beta-Synthase: Characterization of Six Variant Proteins". Human Mutation 35 10 (2014): 1195-1202. http://www.scopus.com/inward/record.url?eid=2-s2.0-84908886502&partnerID=MN8TOARS.
    10.1002/humu.22616
  19. Mendes, M.I.S.; Colaço, H.G.; Smith, D.E.C.; Ramos, R.J.J.F.; Pop, A.; Van Dooren, S.J.M.; Tavares De Almeida, I.; et al. "Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients". Journal of Inherited Metabolic Disease 37 2 (2014): 245-254. http://www.scopus.com/inward/record.url?eid=2-s2.0-84898795692&partnerID=MN8TOARS.
    10.1007/s10545-013-9647-6
  20. Ventura, F.V.; Leandro, P.; Luz, A.; Rivera, I.A.; Silva, M.F.B.; Ramos, R.; Rocha, H.; et al. "Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal". Clinical Genetics 85 6 (2014): 555-561. http://www.scopus.com/inward/record.url?eid=2-s2.0-84899493496&partnerID=MN8TOARS.
    10.1111/cge.12227
  21. Rivera, Isabel. "Functional and structural impact of the most prevalente missense mutations in classic galactosemia". Molecular Genetics & Genomic Medicine (2014):
    10.1002/mgg3.94
  22. Esse, R.; Rocha, M.S.; Barroso, M.; Florindo, C.; Teerlink, T.; Kok, R.M.; Smulders, Y.M.; et al. "Protein Arginine Methylation Is More Prone to Inhibition by S-Adenosylhomocysteine than DNA Methylation in Vascular Endothelial Cells". PLoS ONE 8 2 (2013): http://www.scopus.com/inward/record.url?eid=2-s2.0-84873651491&partnerID=MN8TOARS.
    10.1371/journal.pone.0055483
  23. Barroso, M.; Rocha, M.S.; Esse, R.; Gonçalves Jr., I.; Gomes, A.Q.; Teerlink, T.; Jakobs, C.; et al. "Cellular hypomethylation is associated with impaired nitric oxide production by cultured human endothelial cells". Amino Acids 42 5 (2012): 1903-1911. http://www.scopus.com/inward/record.url?eid=2-s2.0-84862768905&partnerID=MN8TOARS.
    10.1007/s00726-011-0916-0
  24. Pinheiro, A.; Nunes, M.J.; Milagre, I.; Rodrigues, E.; Silva, M.J.; de Almeida, I.T.; Rivera, I.. "Demethylation of the coding region triggers the activation of the human testis-specific PDHA2 gene in somatic tissues". PLoS ONE 7 6 (2012): http://www.scopus.com/inward/record.url?eid=2-s2.0-84861752214&partnerID=MN8TOARS.
    10.1371/journal.pone.0038076
  25. Rocha, M.S.; Teerlink, T.; Janssen, M.C.H.; Kluijtmans, L.A.J.; Smulders, Y.; Jakobs, C.; Tavares de Almeida, I.; et al. "Asymmetric dimethylarginine in adults with cystathionine ß-synthase deficiency". Atherosclerosis 222 2 (2012): 509-511. http://www.scopus.com/inward/record.url?eid=2-s2.0-84861343777&partnerID=MN8TOARS.
    10.1016/j.atherosclerosis.2012.03.009
  26. Pinheiro, A.; Silva, M.J.; Graça, I.; Silva, J.; Sá, R.; Sousa, M.; Barros, A.; Tavares de Almeida, I.; Rivera, I.. "Pyruvate dehydrogenase complex: MRNA and protein expression patterns of E1a subunit genes in human spermatogenesis". Gene 506 1 (2012): 173-178. http://www.scopus.com/inward/record.url?eid=2-s2.0-84864502151&partnerID=MN8TOARS.
    10.1016/j.gene.2012.06.068
  27. Rivera, I.; Mendes, D.; Afonso, Â.; Barroso, M.; Ramos, R.; Janeiro, P.; Oliveira, A.; Gaspar, A.; Tavares de Almeida, I.. "Phenylalanine hydroxylase deficiency: Molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients". Molecular Genetics and Metabolism 104 SUPPL. (2011): http://www.scopus.com/inward/record.url?eid=2-s2.0-82755189536&partnerID=MN8TOARS.
    10.1016/j.ymgme.2011.07.026
  28. Pinheiro, A.; Faustino, I.; Silva, M.J.; Silva, J.; Sá, R.; Sousa, M.; Barros, A.; de Almeida, I.T.; Rivera, I.. "Human testis-specific PDHA2 gene: Methylation status of a CpG island in the open reading frame correlates with transcriptional activity". Molecular Genetics and Metabolism 99 4 (2010): 425-430. http://www.scopus.com/inward/record.url?eid=2-s2.0-77649339572&partnerID=MN8TOARS.
    10.1016/j.ymgme.2009.11.002
  29. Castro, R.; Barroso, M.; Rocha, M.; Esse, R.; Ramos, R.; Ravasco, P.; Rivera, I.; de Almeida, I.T.. "The TCN2 776C>G polymorphism correlates with vitamin B12cellular delivery in healthy adult populations". Clinical Biochemistry 43 7-8 (2010): 645-649. http://www.scopus.com/inward/record.url?eid=2-s2.0-77951207405&partnerID=MN8TOARS.
    10.1016/j.clinbiochem.2010.01.015
  30. Milagre, I.; Nunes, M.J.; Moutinho, M.; Rivera, I.; Fuso, A.; Scarpa, S.; Gama, M.J.; Rodrigues, E.. "Chromatin-modifying agents increase transcription of CYP46A1, a key player in brain cholesterol elimination". Journal of Alzheimer's Disease 22 4 (2010): 1209-1221. http://www.scopus.com/inward/record.url?eid=2-s2.0-79751484908&partnerID=MN8TOARS.
    10.3233/JAD-2010-100651
  31. Rocha, M.S.; Castro, R.; Rivera, I.; Kok, R.M.; Smulders, Y.M.; Jakobs, C.; De Almeida, I.T.; Blom, H.J.. "Global DNA methylation: Comparison of enzymatic- and non-enzymatic-based methods". Clinical Chemistry and Laboratory Medicine 48 12 (2010): 1793-1798. http://www.scopus.com/inward/record.url?eid=2-s2.0-78951484934&partnerID=MN8TOARS.
    10.1515/CCLM.2010.346
  32. João Silva, M.; Pinheiro, A.; Eusébio, F.; Gaspar, A.; Tavares De Almeida, I.; Rivera, I.. "Pyruvate dehydrogenase deficiency: Identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation". European Journal of Pediatrics 168 1 (2009): 17-22. http://www.scopus.com/inward/record.url?eid=2-s2.0-57049133599&partnerID=MN8TOARS.
    10.1007/s00431-008-0700-7
  33. Vilar, R.; Coelho, H.; Rodrigues, E.; Gama, M.J.; Rivera, I.; Taioli, E.; Lechner, M.C.. "Association of A313 G polymorphism (GSTP1*B) in the glutathione-S-transferase P1 gene with sporadic Parkinson's disease". European Journal of Neurology 14 2 (2007): 156-161. http://www.scopus.com/inward/record.url?eid=2-s2.0-33846433663&partnerID=MN8TOARS.
    10.1111/j.1468-1331.2006.01590.x
  34. Castro, R.; Rivera, I.; Blom, H.J.; Jakobs, C.; Tavares de Almeida, I.. "Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: An overview". Journal of Inherited Metabolic Disease 29 1 (2006): 3-20. http://www.scopus.com/inward/record.url?eid=2-s2.0-33645666453&partnerID=MN8TOARS.
    10.1007/s10545-006-0106-5
  35. Gort, L.; Boleda, M.D.; Tyfield, L.; Vilarinho, L.; Rivera, I.; Cardoso, M.L.; Santos-Leite, M.; Girós, M.; Briones, P.. "Mutational spectrum of classical galactosaemia in Spain and Portugal". Journal of Inherited Metabolic Disease 29 6 (2006): 739-742. http://www.scopus.com/inward/record.url?eid=2-s2.0-33751032942&partnerID=MN8TOARS.
    10.1007/s10545-006-0356-2
  36. Vilarinho, L.; Queirós, A.; Leandro, P.; De Almeida, I.T.; Rivera, I.. "Phenylketonuria revisited,Fenilcetonúria revisitada". Arquivos de Medicina 20 5-6 (2006): 161-172. http://www.scopus.com/inward/record.url?eid=2-s2.0-36348943907&partnerID=MN8TOARS.
  37. Castro, R.; Rivera, I.; Martins, C.; Struys, E.A.; Jansen, E.E.W.; Clode, N.; Graça, L.M.; et al. "Intracellular S-adenosylhomocysteine increased levels are associated with DNA hypomethylation in HUVEC". Journal of Molecular Medicine 83 10 (2005): 831-836. http://www.scopus.com/inward/record.url?eid=2-s2.0-26044468390&partnerID=MN8TOARS.
    10.1007/s00109-005-0679-8
  38. Castro, R.; Rivera, I.; Ravasco, P.; Camilo, M.E.; Jakobs, C.; Blom, H.J.; De Almeida, I.T.. "5,10-Methylenetetrahydrofolate reductase (MTHFR) 677C¿T and 1298A¿C mutations are associated with DNA hypomethylation". Journal of Medical Genetics 41 6 (2004): 454-458. http://www.scopus.com/inward/record.url?eid=2-s2.0-2942700001&partnerID=MN8TOARS.
  39. Castro, R.; Rivera, I.; Ravasco, P.; Jakobs, C.; Blom, H.J.; Camilo, M.E.; de Almeida, I.T.. "5,10-methylenetetrahydrofolate reductase 677C ¿ T and 1298A ¿ C mutations are genetic determinants of elevated homocysteine". QJM - Monthly Journal of the Association of Physicians 96 4 (2003): 297-303. http://www.scopus.com/inward/record.url?eid=2-s2.0-0037384215&partnerID=MN8TOARS.
    10.1093/qjmed/hcg039
  40. Castro, R.; Rivera, I.; Struys, E.A.; Jansen, E.E.W.; Ravasco, P.; Camilo, M.E.; Blom, H.J.; Jakobs, C.; De Almeida, I.T.. "Increased homocysteine and S-adenosylhomocysteine concentrations and DNA hypomethylation in vascular disease". Clinical Chemistry 49 8 (2003): 1292-1296. http://www.scopus.com/inward/record.url?eid=2-s2.0-0041866794&partnerID=MN8TOARS.
    10.1373/49.8.1292
  41. Castro, R.; Heil, S.G.; Rivera, I.; Jakobs, C.; Tavares de Almeida, I.; Blom, H.J.. "Molecular genetic analysis of the cystathionine ß-synthase gene in Portuguese homocystinuria patients: Three novel mutations". Clinical Genetics 60 2 (2001): 161-163. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034859418&partnerID=MN8TOARS.
    10.1034/j.1399-0004.2001.600212.x
  42. Busquets, C.; Soriano, M.; De Almeida, I.T.; Garavaglia, B.; Rimoldi, M.; Rivera, I.; Uziel, G.; et al. "Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type 1". Molecular Genetics and Metabolism 71 3 (2000): 535-537. http://www.scopus.com/inward/record.url?eid=2-s2.0-0033731107&partnerID=MN8TOARS.
    10.1006/mgme.2000.3082
  43. Rivera, I.; Cabral, A.; Almeida, M.; Leandro, P.; Carmona, C.; Eusébio, F.; Tasso, T.; et al. "The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients". Molecular Genetics and Metabolism 69 3 (2000): 195-203. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034053978&partnerID=MN8TOARS.
    10.1006/mgme.2000.2971
  44. Leandro, P.; Rivera, I.; Lechner, M.C.; De Almeida, I.T.; Konecki, D.. "The V388M mutation results in a kinetic variant form of phenylalanine hydroxylase". Molecular Genetics and Metabolism 69 3 (2000): 204-212. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034053789&partnerID=MN8TOARS.
    10.1006/mgme.2000.2970
  45. Rivera, I.; Leandro, P.; Lichter-Konecki, U.; De Almeida, I.T.; Lechner, M.C.. "Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal". Journal of Medical Genetics 35 4 (1998): 301-304. http://www.scopus.com/inward/record.url?eid=2-s2.0-0031979714&partnerID=MN8TOARS.
  46. Leandro, P.; Rivera, I.; Ribeiro, V.; de Almeida, I.T.; da Silveira, C.; Lechner, M.C.. "Mutation Analysis of phenylketonuria in South and Central Portugal: Prevalence of V388M mutation". Human Mutation 6 2 (1995): 192-194. http://www.scopus.com/inward/record.url?eid=2-s2.0-0029102923&partnerID=MN8TOARS.
    10.1002/humu.1380060217
  47. Rivera, I.A.; De Almeida, I.T.; Silveira, C.. "A single HPLC system for the evaluation of purine and pyrimidine metabolites in body fluids". Advances in Experimental Medicine and Biology 309 Part B (1991): 11-14. http://www.scopus.com/inward/record.url?eid=2-s2.0-0026335507&partnerID=MN8TOARS.
Capítulo de livro
  1. Rivera, Isabel. "The human testis-specific PDHA2 gene: functional role, regulatory mechanisms and potential therapeutic target in pyru-vate dehydrogenase complex deficiency". In Endocrine Disease. 2014.
  2. Esse, Ruben; Leandro, Paula; Rivera, Isabel; de Almeida, Isabel Tavares; J, Henk; Castro, Rita. "Deciphering Protein Arginine Methylation in Mammals". In Methylation - From DNA, RNA and Histones to Diseases and Treatment. InTech, 2012.
    10.5772/51984
Distinções

Prémio

2022 Prémio Inovação Pedagógica
Universidade de Lisboa Faculdade de Farmácia, Portugal
2019 Melhor Comunicação Oral do 15º Simposium Internacional da Sociedade Portuguesa de Doenças Metabólicas
Sociedade Portuguesa de Doenças Metabólicas, Portugal
2013 Melhor Comunicação Oral do IX Simposium Internacional da Sociedade Portuguesa de Doenças Metabólicas, Coimbra, Portugal, Março.
2013 Melhor Comunicação Oral do 9th International Conference on Homocysteine and One Carbon Metabolism, Dublin, Ireland, Setembro.
2011 Melhor Comunicação Oral da 15ª Reunião Anual da SPGH
2007 Melhor Comunicação Oral do V Simposium Internacional da Sociedade Portuguesa de Doenças metabólicas
2004 Melhor Comunicação em Painel no II Simposium da Sociedade Portuguesa de Doenças Metabólicas