???global.info.a_carregar???
JOÃO PAULO FERREIRA DA SILVA OLIVEIRA. Concluiu o(a) Doutoramento em Medicina em 2008/06/26 pelo(a) Universidade do Porto Faculdade de Medicina, Mestrado em 1º Curso de Mestrado em Genética Médica em 1990/04/20 pelo(a) Universidade do Porto Faculdade de Medicina, Licenciatura em Medicina em 1981/10/29 pelo(a) Universidade do Porto Faculdade de Medicina e Postgraduate Certificate em Postgraduate Course em 1990/07/31 pelo(a) Tel Aviv University Sackler Faculty of Medicine. É Médico Residente > Médico Nefrologista > (1999) Director Clínico no(a) NephroCare - Portugal, Unidade de Hemodiálise de Santa Maria da Feira, Colégio da Especialidade de Nefrologia no(a) Ordem dos Médicos, Colégio da Especialidade de Genética Médica no(a) Ordem dos Médicos, Professor Associado Convidado no(a) Universidade do Porto Faculdade de Medicina, Grau de Chefe de Serviço de Nefrologia, Carreira Médica Hospitalar no(a) Ministério da Saúde e Director de Serviço, Genética Médica no(a) Centro Hospitalar Universitário de São João. Publicou 72 artigos em revistas especializadas. Possui 9 capítulo(s) de livros. Atua na(s) área(s) de Ciências Médicas e da Saúde com ênfase em Medicina Clínica com ênfase em Outras Áreas da Medicina Clínica e Ciências Médicas e da Saúde com ênfase em Medicina Clínica com ênfase em Urologia e Nefrologia. No seu currículo Ciência Vitae os termos mais frequentes na contextualização da produção científica, tecnológica e artístico-cultural são: Síndrome de Alport; glomerulopatia hereditária; colagénio tipo IV; genética molecular; .
Read full resume ↓
Identification

Personal identification

Full name
JOÃO PAULO FERREIRA DA SILVA OLIVEIRA

Citation names

  • Oliveira, João P.
  • Oliveira, João-Paulo
  • Oliveira, JP
  • João Paulo Oliveira
  • João Paulo F S Oliveira
  • João Oliveira
  • J Paulo Oliveira
  • João P. Oliveira
  • Joao Paulo Oliveira
  • Joao-Paulo Oliveira

Author identifiers

Ciência ID
9E10-FE6E-1CEE
ORCID iD
0000-0002-5016-1967
Researcher Id
C-2154-2012
Scopus Author Id
2302119

Addresses

  • Unidade de Genética, Faculdade de Medicina da Universidade do Porto, Alameda Prof. Hernâni Monteiro, 4200-319, Porto, Porto, Portugal (Professional)
  • Serviço de Genética Médica, Centro Hospitalar Universitário de São João, Alameda Prof. Hernâni Monteiro, 4200-319, Porto, Porto, Portugal (Professional)

Websites

Knowledge fields

  • Medical and Health Sciences - Clinical Medicine - Other Clinical Medicine Subjects
  • Medical and Health Sciences - Clinical Medicine - Urology and Nephrology

Languages

Language Speaking Reading Writing Listening Peer-review
English Intermediate (B1) Advanced (C1) Advanced (C1) Intermediate (B1)
Spanish; Castilian Intermediate (B1) Advanced (C1) Beginner (A1) Intermediate (B1)
French Beginner (A1) Intermediate (B1) Beginner (A1) Beginner (A1)
Education
Degree Classification
2008/06/26
Concluded
 Medicina (Doutoramento)
Major in Genética Médica
Universidade do Porto Faculdade de Medicina, Portugal
"Fabry Disease: Studies on Phenotypic Expression, Diagnosis and Treatment" (THESIS/DISSERTATION)
 Aprovado por unanimidade
1990/05/01 - 1990/07/31
Concluded
 Postgraduate Course (Postgraduate Certificate)
Major in Nephrology
Tel Aviv University Sackler Faculty of Medicine, Israel
1986 - 1990/04/20
Concluded
 1º Curso de Mestrado em Genética Médica (Mestrado)
Major in Genética Médica
Universidade do Porto Faculdade de Medicina, Portugal
"Resposta Imunológica à Infecção pelo Vírus da Hepatite B - Análise de Factores Genéticos e Imunogenéticos" (THESIS/DISSERTATION)
 Muito Bom
1981/10/29
Concluded
 Medicina (Licenciatura)
Major in Não Aplicável
Universidade do Porto Faculdade de Medicina, Portugal
 16
Affiliation

Teaching in Higher Education

Category
Host institution 		Employer
2014/09 - Current Invited Associate Professor (University Teacher) Universidade do Porto Faculdade de Medicina, Portugal
2008/12 - 2014/08 Invited Associate Professor (University Teacher) Universidade do Porto Faculdade de Medicina, Portugal
1986/01 - 2008/12 Invited Assistant (University Teacher) Universidade do Porto Faculdade de Medicina, Portugal
1984/08 - 1986/01 Tutor (University Teacher) Universidade do Porto Faculdade de Medicina, Portugal

Positions / Appointments

Category
Host institution 		Employer
2024/10/04 - Current Director, Serviço de Genética Humana | Director, Service of Human Genetics Unidade Local de Saúde São João, Portugal
2015/07/01 - Current Médico em Regime de Voluntariado Centro de Atletismo do Porto, Portugal
Centro de Atletismo do Porto, Portugal
2008/10 - 2024/10/03 Coordenador, Serviço de Genética Humana | Physician-in-Charge, Service of Human Genetics Centro Hospitalar Universitário de São João, Portugal

Others

Category
Host institution 		Employer
2008 - Current Grau de Chefe de Serviço de Nefrologia, Carreira Médica Hospitalar Ministério da Saúde, Portugal
Centro Hospitalar Universitário de São João, Portugal
2000 - Current Colégio da Especialidade de Genética Médica Ordem dos Médicos, Portugal
1994 - Current Colégio da Especialidade de Nefrologia Ordem dos Médicos, Portugal
1984/07/01 - 2024/03/31 Médico Residente > Médico Nefrologista > [1999] Director Clínico NephroCare - Portugal, Unidade de Hemodiálise de Santa Maria da Feira, Portugal
1996 - 2008 Grau de Consultor em Nefrologia, Carreira Médica Hospitalar Ministério da Saúde, Portugal
Hospital de São João, Portugal
1995 - 2008 Assistente da Carreira Médica Hospitalar, Serviço de Nefrologia Hospital de São João, Portugal
1992/07 - 2008 Médico Responsável da Consulta de Genética Médica Hospital de São João, Portugal
1994 - 2004 Médico Responsável, Programa de Diálise Peritoneal, Serviço de Nefrologia Hospital de São João, Portugal
1992 - 2000 Colégio da Competência de Genética Médica Ordem dos Médicos, Portugal
1987/07 - 1999 Médico Residente > Médico Nefrologista D.R.D. - Doenças Renais e Diálise, Unidade de Hemodiálise de Riba de Ave, Portugal
1991/01 - 1996 Grau de Especialista em Nefrologia, Carreira Médica Hospitalar Ministério da Saúde, Portugal
Hospital de São João, Portugal
1991 - 1994 Assistente Eventual da Carreira Médica Hospitalar, Serviço de Nefrologia Hospital de São João, Portugal
1985/10/01 - 1990/09/30 Internato Complementar de Nefrologia Hospital de São João, Portugal
1984/07/01 - 1985/09/30 Prolongamento do Internato de Policlínica Hospital de São João, Portugal
1982/01/01 - 1983/06/30 Internato de Policlínica Hospital de São João, Portugal
Projects

Contract

Designation Funders
2022 - Current Peroxidasin as a Novel Target in Chronic Kidney Disease Diagnosis and Treatment - PxINk
2022.04524.PTDC
Principal investigator
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
 Fundação para a Ciência e a Tecnologia
Ongoing
2022 - Current Characterization of invariant Natural Killer T cell phenotype and function in alpha-Galactosidase A deficiency
2022.01788.PTDC
Researcher
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
 Fundação para a Ciência e a Tecnologia
Ongoing
2020/10/29 - Current Analysis of Peroxidasin Expression in IgA Nephropathy: Association with Renal Fibrosis and Disease Progression
SPN_2019
Principal investigator
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
 Sociedade Portuguesa de Nefrologia
Ongoing
2019/01/01 - 2019/12/31 Institute for Research and Innovation in Health Sciences
UID/BIM/04293/2019
LA/P/0070/2020
10.54499/LA/P/0070/2020
Instituto Nacional de Engenharia Biomédica, Portugal

Universidade do Porto, Portugal

Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal

Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2013 - 2015 Identificação da causa genética de Síndrome de Alport em famílias portuguesas (segunda fase)
SPN_2013_ALPORT
Principal investigator
Universidade do Porto Faculdade de Medicina, Portugal

Centro Hospitalar Universitário de São João, Portugal
Sociedade Portuguesa de Nefrologia
Concluded
2011/01/01 - 2013/12/31 Projecto Estratégico - UI 725 - 2011-2012
PEst-OE/SAU/UI0725/2011
Universidade do Porto Faculdade de Medicina Dentária, Portugal

Hospital de São João, Portugal

Universidade do Porto Faculdade de Medicina, Portugal

Universidade do Porto Unidade de Investigação e Desenvolvimento de Nefrologia, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2011 - 2013 Síndrome de Alport - Estudo Clínico e Molecular de Famílias Portuguesas
SPN_15072011_ALPORT
HMSP-ICJ/SAU-ICT/0003/2009
Principal investigator
Centro Hospitalar Universitário de São João, Portugal

Universidade do Porto Faculdade de Medicina, Portugal

Universidade do Porto Unidade de Investigação e Desenvolvimento de Nefrologia, Portugal

Hospital de São João, Portugal
Sociedade Portuguesa de Nefrologia

Fundação para a Ciência e a Tecnologia
Concluded
Outputs

Publications

Book chapter
  1. João Paulo Oliveira. "Doença de Fabry: genótipos e fenótipos". In 50 Perguntas Chave na Nefrologia - Doença de Fabry, edited by Aníbal Ferreira; Idalina Beirão, 1-16. Lisboa, Portugal: Permanyer Portugal, 2022.
    Published
  2. Oliveira, JP. "Notas sobre a causalidade e a epidemiologia genética das doenças renais, a classificação dos fatores genéticos de doença e métodos para a sua identificação". In 50 Perguntas chave na... Abordagem das Nefropatias Hereditárias, edited by João Paulo Oliveira, Joaquim Tomaz Calado, Aníbal Ferreira, 35-50. Lisboa, Portugal: Permanyer Portugal, 2019.
    Published
  3. Castro-Ferreira, I.; Carmo, Rute; Silva, Sérgio Estrela; Corrêa, Otília; Fernandes, Susana; Sampaio, Susana; Pedro, Rodrigues-Pereira; Praça, Augusta; Oliveira, João Paulo. "Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers". In JIMD Reports, 55-62. United States: Springer Berlin Heidelberg, 2017.
    Published • 10.1007/8904_2017_57
  4. Ferreira, S.; Reguenga, C.; Oliveira, J.P.. "The modulatory effects of the polymorphisms in GLA 5'-untranslated region upon gene expression are cell-type specific". In JMID Rep, 27-34. United States: Springer Berlin Heidelberg, 2015.
    10.1007/8904_2015_424
  5. Moura, Carla Pinto; Soares, Carlos; Seixas, Daniela; Ayres-Bastos, Margarida; Oliveira, João Paulo. "Temporal Intradiploic Dilative Vasculopathy: An Additional Pathogenic Factor for the Hearing Loss in Fabry Disease?". In JIMD Reports, 7-12. United States: Springer Berlin Heidelberg, 2013.
    Published • 10.1007/8904_2012_132
  6. Warnock, David G.; Valbuena, Carmen; West, Michael; Oliveira, João Paulo. "Renal Manifestations of Fabry Disease". In Fabry Disease, edited by Deborah Elstein, Gheona Altarescu, Michael Beck, 211-243. Dordrecht, Netherlands: Springer Netherlands, 2010.
    Published • 10.1007/978-90-481-9033-1_12
  7. Oliveira, JP. "Síndrome de Ochoa". In Doenças Raras de A a Z, edited by Paula Brito e Costa, 76-77. Lisboa, Portugal: Federação das Doenças Raras de Portugal; Companhia de Ideias, 2010.
    Published
  8. Oliveira, JP. "Síndrome de Ulick". In Doenças Raras de A a Z, edited by Paula Brito e Costa; Sérgio Castedo, 88-89. Lisboa, Portugal: Federação das Doenças Raras de Portugal; Companhia de Ideias, 2010.
    Published
  9. Oliveira, JP. "Síndrome de Von-Hippel Lindau". In Doenças Raras de A a Z, edited by Paula Brito e Costa; Sérgio Castedo, 90-91. Lisboa, Portugal: Federação das Doenças Raras de Portugal; Companhia de Ideias, 2010.
    Published
  10. Victor Faria; L. Sousa Fernandes; Elísio Carvalho; J. Macedo Dias; Oliveira, JP. "Dois casos de patologia renal. Reunião anátomo clínica.". In Homenagem ao Professort Cerqueira Magro, edited by Henrique Lecour, 93-104. Porto, Portugal: MSD - Merck Sharp & Dohme Lda., 1992.
    Published
Conference abstract
  1. Jorge Reis Almeida; Susana Ferreira; Roberto Silva; Ana Paula Neto; Isabel Brandão; Inês Soares Alencastre; Manuel Pestana; Oliveira, JP. "23 - A series of electron microscopy kidney biopsies and the frequency of ultrastructural findings indistinguishable from Alport's disease/collagen IV in the glomerular basement membrane, without an established genetic diagnosis in northern Portugal". Paper presented in Encontro Renal 2023 | 37th Congress of the Portuguese Society of Nephrology - Portuguese Kidney Journal, Porto, 2024.
    Published
  2. Vítor Fernandes; Roberto Silva; Luís Mendonça; Bernardo Faria; Inês Soares Alencastre; Isabel Brandão; Manuel Pestana; Oliveira, JP; Jorge Reis Almeida. "152 - Beyond the International IgA Nephropathy prediction tool: possible diverse factors for progression in a biopsy based 5-year cohort study?". Porto, 2024.
    Published
  3. Francisco Gonçalves; Pedro Lisboa Gonçalves; Rita Quental; Susana Fernandes; Sofia Quental; Isabel Tavares; Oliveira, JP. "#5302. Revisiting the pathogenic role of the SLC8A1 gene in a family with a novel terminal gross deletion in the UMOD gene". Paper presented in 60th ERA - European Renal Association Congress, Milano, 2023.
    Published
  4. Simões, Marta; Santos, Maria João; Martins, Sara; Gomes, Célia; Durães, João; Oliveira, JP; Ferreira, José Carlos; et al. "57ASM - 179 | AddFun: Adding functional genomics to genetics in mitochondrial oxidative phosphorylation diseases". Paper presented in 57th Annual Scientific Meeting of the European Society for Clinical Investigation - European Journal of Clinical Investigation, Prague, 2023.
    Published
  5. Rita Quental; Sofia Quental; Ana Grangeia; Sérgio Castedo; Oliveira, JP. "OP8. Cubilin variants in patients with chronic kidney disease including end-stage". Paper presented in 24.ª Reunião Anual da SPGH – Sociedade Portuguesa de Genética Humana, Lisboa, 2021.
    Published
  6. Quental, Rita; Grangeia, Ana; Alonso, Isabel; Susana Fernandes; Isabel Miguel; Carla Pinto Moura; Parente Freixo, João; et al. "P15.70.B - Next-Generation Sequencing approach for a wide range of genetic disorders: the experience of a Portuguese Academic Hospital". Paper presented in 53rd European Society of Human Genetics Conference | European Journal of Human Genetics, 2020.
    Published
  7. Liliana Rocha; Fernandes, Susana; João Paulo Oliveira. "P03.08C - A pathogenic PKD2 nonsense variant is highly prevalent in the Northern Portuguese population". Paper presented in 51 st European Society of Human Genetics Conference 2018 | European Journal of Human Genetics, Milano, 2019.
    Published
  8. Susana Ferreira; Carlos Reguenga; João Paulo Oliveira. "P20.22 - Luciferase assays of 5’ untranslated region polymorphisms of the alpha-galactosidase gene". Paper presented in European Human Genetics Conference 2013 | European Journal of Human Genetics, Paris, 2013.
    Published
  9. Liliana Rocha; Fernandes, Susana; João Paulo Oliveira. "P02.177 - LMX1B mutations in Nail-Patella Syndrome". Paper presented in European Human Genetics Conference 2012 | European Journal of Human Genetics, Nürnberg, 2012.
    Published
  10. Maria João Nabais Sá; Susana Alves; Carvalho, Filipa; Oliveira, João-Paulo. "P12.007 - COL4A5 mutational analysis of 51 unrelated Portuguese patients with Alport syndrome - preliminary report". Paper presented in European Human Genetics Conference 2012 | European Journal of Human Genetics, Nürnberg, 2012.
    Published
  11. Lima, Vera; Cláudia Reis; Viv Maloney; Ana Paula Neto; Manuela Cunha; Maciel, Patrícia; Filipa Carvalho; et al. "P05.21 - Prenatal diagnosis of a de novo euchromatic variant 16p11.2". Paper presented in European Human Genetics Conference 2012 | European Journal of Human Genetics, Nürnberg, 2012.
    Published
  12. Wanner, C.; Oliveira, J.P. (9E10-FE6E-1CEE); Ortiz, A.; Mauer, M.; Germain, D.P.; Linthorst, G.E.; Serra, A.L.; et al. "P24 — Prognostic Indicators of Renal Disease Progression: Natural History Data From the Fabry Registry". Istambul, 2012.
    Published • https://doi.org/10.1016/j.clinthera.2012.03.053
  13. João Paulo Oliveira. "Peripheral Blood Cytopenias and Spleen Pathology". Paper presented in 11th European Round Table on Fabry Disease | Clinical Therapeutics Supplement, Istambul, 2012.
    Published • 10.1016/j.clinthera.2012.03.022
  14. Ortiz, A; Cianciaruso, B; Cizmarik, M; Germain, DP; Mignani, R; Oliveira, JP; Villalobos, J; et al. "Natural History of End-Stage Renal Disease in Patients Enrolled in the Fabry Registry". Paper presented in 10th Annual European Round Table on Fabry Disease: Evolving Standards in Fabry Disease | Clinical Therapeutics Supplement, Praga, 2010.
    Published
  15. Oliveira, JP; Fogo, AB; Bostad, L; Svarstad, E; Cook, WJ; Moll, S; Barbey, F; et al. "Scoring System for Renal Pathology in Fabry Disease: Report of the International Study Group of Fabry Nephropathy". Paper presented in 10th Annual European Round Table on Fabry Disease: Evolving Standards in Fabry Disease | Clinical Therapeutics Supplement, Praga, 2010.
    Published
  16. Ferreira, S; Carvalho, F; Carvalho, B; Valbuena, C; Oliveira, JP. "A Novel GLA Gene Duplication (c.305-749[2] dupEx2-Ex4) in a Family with Fabry Disease". Paper presented in 10th Annual European Round Table on Fabry Disease: Evolving Standards in Fabry Disease | Clinical Therapeutics Supplement, Praga, 2010.
    Published
  17. Viana Baptista, M; Ferreira, S; Pinho e Melo, T; Carvalho, M; Cruz, VT; Carmona, C; Silva, F; et al. "PORTYSTROKE: Screening Genetic Conditions in Portuguese Young Stroke Patients". Paper presented in 9th Annual European Round Table on Fabry Disease: Enduring Optimal Management of the Fabry Family | Clinical Therapeutics Supplement, Atenas, 2009.
    Published • https://doi.org/10.1016/S0149-2918(09)00237-9
  18. Ferreira, S; Sousa, S; Coelho, S; Viana Baptista, M; Ferro, JM; Oliveira, JP. "Frequencies of Allelic Variants of the GLA Gene in Portuguese Healthy Individuals and Stroke Patients". Paper presented in 9th Annual European Round Table on Fabry Disease: Enduring Optimal Management of the Fabry Family | Clinical Therapeutics Supplement, Atenas, 2009.
    Published
  19. João Oliveira; Susana Ferreira; J. Barceló; Carvalho, Filipa; Jan-Eric Månsson. "P07.008 - Leukocyte and Plasma Alpha-Galactosidase Enzyme Activity Levels in Healthy Young Adults: Evidence that Females Have Higher Plasma Levels". Paper presented in European Human Genetics Conference 2008 | European Journal of Human Genetics, Barcelona, 2008.
    Published
  20. Susana Ferreira; Miguel Viana-Baptista; I. Costa; M. Machado; José Manuel Ferro; João Paulo Oliveira. "P07.062 - GLA mutations in young adult patients with a first stroke: The PORTYSTROKE study - screening genetic conditions in PORTuguese Young STROKE patients". Paper presented in European Human Genetics Conference 2008 | European Journal of Human Genetics, Barcelona, 2008.
    Published
  21. Susana Ferreira; Miguel Viana-Baptista; I. Costa; José Manuel Ferro; João Paulo Oliveira. "P07.094 - NOTCH3 mutations in young adult patients with a first stroke: The PORTYSTROKE study - screening genetic conditions in PORTuguese Young STROKE patients". Paper presented in European Human Genetics Conference 2008 | European Journal of Human Genetics, Barcelona, 2008.
  22. Eng, Christine; Ortiz, Alberto; Oliveira, JP; Waldek, Steven; Warnock, David; Cianciaruso, Bruno; Wanner, Christoph. "27. Nephropathy in Fabry disease: Baseline characteristics of 1262 patients in the Fabry Registry". Paper presented in Lysosomal Disease Network's "WORLD Symposium" 2008 | Molecular Genetics and Metabolism, Las Vegas (NV), 2008.
    Published • https://doi.org/10.1016/j.ymgme.2007.10.039
  23. Leao, TE; Rodrigues, E; Baptista, MJ; Jardim, H; Moura, C; Magalhaes, A; Lacerda, L; Oliveira, JP. "Fabry disease in childhood: Renal involvement the value of general evaluation". 2008.
  24. Balreira, A; Macedo, MF; Girao, C; Rodrigues, LG; Oliveira, JP; Sa, MMC; Arosa, FA. "Anomalies in T and iNKT populations in Fabry mice but not in Fabry patients". 2008.
  25. Soares, C; Faria, B; Sousa, T; Garrido, J; Lemos, S; Oliveira, JP. "Significant proteinuria reduction in Fabry disease after a short period of combined enzyme replacement therapy and angiotensin-converting enzyme inhibitor". 2008.
  26. Ortiz, A; Oliveira, JP; Wanner, C; Brenner, BM; Waldek, S; Warnock, DG. "DIAGNOSIS AND TREATMENT OF FABRY NEPHROPATHY, WITH CLINICAL PRACTICE RECOMMENDATIONS AND GUIDELINES". 2008.
  27. Ferreira, S; Viana Baptista, M; Carvalho, F; Fernandes, S; Ferro, J; Oliveira, JP. "Abnormal alpha-galactosidase mRNA transcripts are present in individuals with apparently normal exonic and splicing-site gene sequence". 2008.
  28. Ortiz, A; Oliveira, JP; Waldek, S; Warnock, DG; Cianciaruso, B; Wanner, C. "Nephropathy in Fabry disease: Baseline characteristics of a cohort of 1262 female and male patients in the Fabry registry". 2008.
  29. Susana Ferreira; Miguel Viana-Baptista; P. Costa; Margarida Venâncio; Susana Fernandes; Filipa Carvalho; José Manuel Ferro; João Oliveira. "P1139 - NOTCH3 mutations in Portuguese patients with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL): implications for diagnostic strategies". Paper presented in European Human Genetics Conference 2007 | European Journal of Human Genetics, Nice, 2007.
    Published
  30. Ortiz, A; Oliveira, J; Cianciaruso, B; Waldek, S; Warnock, D; Wanner, C; Fabry, R. "Relationship between chronic renal disease, blood pressure, and left ventricular hypertrophy in males and females with Fabry disease". Paper presented in 7th Annual European Round Table on Fabry Disease: Towards Comprehensive Disease Management | Clinical Therapeutics Supplement, Barcelona, 2007.
    Published • 10.1016/s0149-2918(07)80130-5
  31. Ortiz, A; Oliveira, J; Cianciaruso, B; Waldeka, S; Warnock, D; Wanner, C. "Progressive development of microalbuminuria and proteinuria in males and females with Fabry disease". Paper presented in 7th Annual European Round Table on Fabry Disease: Towards Comprehensive Disease Management | Clinical Therapeutics Supplement, Barcelona, 2007.
    Published • 10.1016/s0149-2918(07)80125-1
  32. Moura, Carla; Soares, C.; Seixas, D.; Ayres-Bastos, M.; Pais Clemente, M.; Oliveira, J.P. (9E10-FE6E-1CEE). "Fabry disease: Worsening of hearing loss with enzyme replacement therapy". Paper presented in 7th Annual European Round Table on Fabry Disease: Towards Comprehensive Disease Management | Clinical Therapeutics Supplement, Barcelona, 2007.
    10.1016/s0149-2918(07)80159-7
  33. Ferreira, Susana; Barceló, Josefa; Carvalho, Filipa; Oliveira, JP. "Frequency of 5 ' untranslated region single nucleotide polymorphisms of the alpha-galactosidase A gene in the Portuguese population". Paper presented in 7th Annual European Round Table on Fabry Disease: Towards Comprehensive Disease Management | Clinical Therapeutics Supplement, Barcelona, 2007.
    Published • https://doi.org/10.1016/S0149-2918(07)80147-0 Preservation Status Report a problem
  34. Ferreira, S; Barcelo, J; Carvalho, F; Mansson, JE; Oliveira, JP; Ferreira, S.; Barceló, J.; Mansson, J.-E.; Oliveira, J.P.. "Evidence for selective low leukocyte enzyme activity levels associated with the G1170C > T 5'-untranslated polymorphism of the alpha-galactosidase A gene". Paper presented in 7th Annual European Round Table on Fabry Disease: Towards Comprehensive Disease Management | Clinical Therapeutics Supplement, Barcelona, 2007.
    Published • 10.1016/s0149-2918(07)80148-2
  35. Ortiz, A; Oliveira, JP; Cianciaruso, B; Waldek, S; Wanner, C. "The Fabry registry demonstrates heterogeneity of renal progression in 833 males and females with Fabry disease". 2006.
  36. PRACA, A; OLIVEIRA, JP; PINHO, A; CORDAS, L; FERNANDES, J; MOREIRA, AB; FERRAZ, JO; BARROS, H. "TIME ON DIALYSIS IS THE MAJOR RISK FACTOR FOR HEPATITIS-C VIRUS-INFECTION IN HEMODIALYSIS-PATIENTS". 1994.
  37. BUSTORFF, M; MOURA, C; COSTA, E; OLIVEIRA, JP; GUERRA, L. "MUCKLE-WELLS SYNDROME - AN INFREQUENT ETIOLOGY OF AMYLOID NEPHROPATHY". 1994.
  38. ALMEIDA, C; BALDAIA, J; OLIVEIRA, JP; GUIMARAES, JT; GUERRA, L. "SEPSIS RELATED TO THE USE OF CATHETERS AS TEMPORARY ANGIOACCESS IN HEMODIALYSIS-PATIENTS". 1994.
Conference paper
  1. Gomes, Emílio*; Brandão, Isabel*; Teixeira, Catarina; Ramil-Gómez, Olalla; Carvalho, Eduarda; Fernandes, Rúben; Silva, Roberto; et al. "Evaluation of a new player in renal fibroblast activation". Paper presented in Encontro de Investigação Jovem da Universidade do Porto (IJUP), Porto, 2023.
Conference poster
  1. Ferreira, S; Tavares, I.; Rosa, G.; Granja, B.V.; Pinto, J.; Oliveira, J.P. (9E10-FE6E-1CEE). "Functional analyses of COL4 genetic variants". Paper presented in 28ª Reunião Anual | 28th Annual Meeting, Sociedade Portuguesa de Genética Humana, 2024.
  2. Alice Porto Vasconcelos; Liliana Rocha; João Paulo Oliveira. "The importance of familial cosegregation in the classification of a new PKD1 variant associated with ADPKD". Paper presented in 28ª Reunião Anual | 28th Annual Meeting, Sociedade Portuguesa de Genética Humana, 2024.
  3. Marta Simões; Maria João Santos; Martins, Sara; Maria do Carmo Macário; João Durães; João Paulo F S Oliveira; José Carlos Ferreira; Manuela Grazina. "Challenges in genetic diagnosis of mitochondrial diseases: what can functional genomics' studies do?". Paper presented in 19th International Symposium of the Portuguese Society for Metabolic Disorders, 2023.
  4. Neto, AP; Lima, Vera; Dória, S; Rodrigues, M; Matias, A; Oliveira, JP; Carvalho, F. "Dyzygotic monochorionic twins with 46,XY/46,XX chimerism: the genetic perspective.". Paper presented in X Jornadas Internacionais de Diagnóstico Pré-Natal, 2012.
Edited book
  1. Oliveira, JP. 50 Perguntas chave na... Abordagem das Nefropatias Hereditárias. Lisboa, Portugal: Permanyer Portugal. 2019.
    Published • Editor
Journal article
  1. Francisco Gonçalves; Isabel Tavares; Roberto Silva; Ana Teresa Nunes; Luciano Pereira; Andreia Campos; Joel Pinto; et al. "Homozygosity for a Rare FASTKD2 Variant Resulting in an Adult Onset Autosomal Recessive Mitochondrial Podocytopathy". American Journal of Kidney Diseases (2024): http://dx.doi.org/10.1053/j.ajkd.2024.05.018.
    10.1053/j.ajkd.2024.05.018
  2. Gunnar Houge; Mirjam Langeveld; Joao-Paulo Oliveira. "GLA insufficiency should not be called Fabry disease". European Journal of Human Genetics (2024): https://doi.org/10.1038/s41431-024-01657-0.
    10.1038/s41431-024-01657-0
  3. Smerkous, David; Mauer, Michael; Tøndel, Camilla; Svarstad, Einar; Gubler, Marie-Claire; Nelson, Robert G.; Oliveira, JP; et al. "Development of an automated estimation of foot process width using deep learning in kidney biopsies from patients with Fabry, minimal change, and diabetic kidney diseases". Kidney International 105 1 (2024): 165-176. http://dx.doi.org/10.1016/j.kint.2023.09.011.
    10.1016/j.kint.2023.09.011
  4. Francisco Gonçalves; Pedro Lisboa-Gonçalves; Rita Quental; Susana Fernandes; Sofia Quental; Laurence Michel-Calemard; Claire Goursaud; et al. "Familial juvenile hyperuricemic nephropathy: Revisiting the SLC8A1 gene, in a family with a novel terminal gross deletion in the UMOD gene". Nefrología 44 4 (2023): 576-581. http://dx.doi.org/10.1016/j.nefro.2023.09.007.
    Open access • Published • 10.1016/j.nefro.2023.09.007
  5. Pedro Gonçalves; Filipa Ferreira; Isabel Tavares; Oliveira, JP. "Raising Awareness Towards Underdiagnosed Renal Hypouricemia: A Case Report". Portuguese Journal of Nephrology & Hypertension 37 2 (2023): 102-105. https://doi.org/10.32932/pjnh.2023.05.237.
    Open access • Published • 10.32932/pjnh.2023.05.237
  6. Wanner, Christoph; Ortiz, Alberto; Wilcox, William R.; Hopkin, Robert J.; Johnson, Jack; Ponce, Elvira; Ebels, Johan T.; et al. "Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community". Molecular Genetics and Metabolism 139 3 (2023): 107603. http://dx.doi.org/10.1016/j.ymgme.2023.107603.
    Open access • Published • 10.1016/j.ymgme.2023.107603
  7. Madureira Gomes, Sara; Igreja, Ana Isabel; Silva, Roberto; Oliveira, João Paulo; Pinto, Helena. "Podocytopathy and Glomerular Basement Membrane Anomalies in Two Patients With Cubilin Gene Mutations". Cureus 15 2 (2023): e34730_1|5-e34730_5|5. http://dx.doi.org/10.7759/cureus.34730.
    Open access • Published • 10.7759/cureus.34730
  8. Smerkous, David; Mauer, Michael; Tondel, Camilla; Svarstad, Einar; Gubler, Marie-Claire; Oliveira, João-Paulo; Sargolzaeiaval, Forough; et al. "Automated estimation of foot process width using deep learning in kidney biopsies from patients with Fabry disease". Molecular Genetics and Metabolism | WORLDSymposiumTM 2022 Program and Abstracts 135 2 (2022): S113. http://dx.doi.org/10.1016/j.ymgme.2021.11.300.
    Published • 10.1016/j.ymgme.2021.11.300
  9. Mendonça Almeida, Leonor; Sousa, Célia; Vilares Morgado, Paulo; Fernandes, Pedro; Amado, José; Paiva, José Artur; Marinho, Anabela; Oliveira, João Paulo. "Massive Pulmonary Thrombosis Following Haemoptysis in Type IV Ehlers-Danlos Syndrome". Archivos de Bronconeumología 57 4 (2021): 309-311. http://dx.doi.org/10.1016/j.arbres.2020.12.020.
    Published • 10.1016/j.arbres.2020.12.020
  10. Moreno-Martinez, D.; Aguiar, P.; Auray-Blais, C.; Beck, M.; Bichet, D.G.; Burlina, A.; Cole, D.; et al. "Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus". Molecular Genetics and Metabolism 132 4 (2021): 234-243. http://dx.doi.org/10.1016/j.ymgme.2021.02.001.
    Published • 10.1016/j.ymgme.2021.02.001
  11. Laney, Dawn A.; Germain, Dominique P.; Oliveira, João Paulo; Burlina, Alessandro P.; Cabrera, Gustavo H.; Hong, Geu-Ru; Hopkin, Robert J.; et al. "133. Fabry disease and COVID-19: International expert recommendations for management based on real-world experience". Molecular Genetics and Metabolism | WORLDSymposiumTM 2020 Program and Abstracts 132 2 (2021): S62. http://dx.doi.org/10.1016/j.ymgme.2020.12.139.
    Published • 10.1016/j.ymgme.2020.12.139
  12. Charlton, Jennifer R.; Tan, Weizhen; Daouk, Ghaleb; Teot, Lisa; Rosen, Seymour; Bennett, Kevin M.; Cwiek, Aleksandra; et al. "Beyond the tubule: pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease". American Journal of Physiology-Renal Physiology 319 6 (2020): F988-F999. http://dx.doi.org/10.1152/ajprenal.00295.2020.
    10.1152/ajprenal.00295.2020
  13. Laney, Dawn A; Germain, Dominique P; Oliveira, João Paulo; Burlina, Alessandro P; Cabrera, Gustavo Horacio; Hong, Geu-Ru; Hopkin, Robert J; et al. "Fabry disease and COVID-19: international expert recommendations for management based on real-world experience". Clinical Kidney Journal 13 6 (2020): 913-925. http://dx.doi.org/10.1093/ckj/sfaa227.
    10.1093/ckj/sfaa227
  14. Pedro Castro; Mariana Gutierres; Gilberto Pereira; Susana Ferreira; João Paulo Oliveira; Elsa Azevedo. "Evaluation of Cerebral Microvascular Regulatory Mechanisms with Transcranial Doppler in Fabry Disease". Brain Sciences 10 8 (2020): 528-528. https://doi.org/10.3390/brainsci10080528.
    10.3390/brainsci10080528
  15. Germain, Dominique P; Oliveira, João Paulo; Bichet, Daniel G; Yoo, Han-Wook; Hopkin, Robert J; Lemay, Roberta; Politei, Juan; et al. "Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup". Journal of Medical Genetics 57 8 (2020): 542-551. http://dx.doi.org/10.1136/jmedgenet-2019-106467.
    Published • 10.1136/jmedgenet-2019-106467
  16. Oliveira, João P.; Nowak, Albina; Barbey, Frédéric; Torres, Márcia; Nunes, José P.; Teixeira-e-Costa, Fernando; Carvalho, Fernanda; et al. "Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males". European Journal of Medical Genetics 63 2 (2020): 103703. http://dx.doi.org/10.1016/j.ejmg.2019.103703.
    Published • 10.1016/j.ejmg.2019.103703
  17. Najafian, B.; Tøndel, C.; Svarstad, E.; Gubler, M.-C.; Oliveira, J.-P.; Mauer, M.; Najafian, Behzad; et al. "Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss". Journal of the American Society of Nephrology : JASN 31 4 (2020): 865-875. http://www.scopus.com/inward/record.url?eid=2-s2.0-85082881388&partnerID=MN8TOARS.
    Published • 10.1681/ASN.2019050497
  18. Farr, Martin; Ferreira, Susana; Al-Dilaimi, Arwa; Bögeholz, Sonja; Goesmann, Alexander; Kalinowski, Jörn; Knabbe, Cornelius; et al. "Fabry disease: Detection of Alu-mediated exon duplication by NGS". Molecular and Cellular Probes 45 (2019): 79-83. http://dx.doi.org/10.1016/j.mcp.2019.03.008.
    Published • 10.1016/j.mcp.2019.03.008
  19. Germain, Dominique P.; Elliott, Perry M.; Falissard, Bruno; Fomin, Victor V.; Hilz, Max J.; Jovanovic, Ana; Kantola, Ilkka; et al. "The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts". Molecular Genetics and Metabolism Reports 19 (2019): 100454. http://dx.doi.org/10.1016/j.ymgmr.2019.100454.
    Published • 10.1016/j.ymgmr.2019.100454
  20. João Paulo Oliveira; Susana Ferreira; Oliveira, João Paulo; Ferreira, Susana. "Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype-phenotype correlations". The Application of Clinical Genetics Volume 12 (2019): 35-50. https://doi.org/10.2147/TACG.S146022.
    Published • 10.2147/TACG.S146022
  21. Wanner, Christoph; Arad, Michael; Baron, Ralf; Burlina, Alessandro; Elliott, Perry M.; Feldt-Rasmussen, Ulla; Fomin, Victor V.; et al. "European expert consensus statement on therapeutic goals in Fabry disease". Molecular Genetics and Metabolism 124 3 (2018): 189-203. http://dx.doi.org/10.1016/j.ymgme.2018.06.004.
    10.1016/j.ymgme.2018.06.004
  22. Oliveira, JP. "Making the diagnosis of Alport syndrome and the differential diagnosis of a severe superimposed second glomerulopathy in a young boy". Portuguese Journal of Nephrology & Hypertension 32 2 (2018): 110-120. http://www.bbg01.com/cdn/rsc/spnefro/advaccess/140/03Nefro322Indepthcasediscussion.pdf.
    Open access • Published
  23. Hopkin, Robert J.; Germain, Dominique P.; Bichet, Daniel G.; Gruskin, Daniel J.; Lemay, Roberta M.; Oliveira, João P.; Politei, Juan M.; et al. "151. A survivor analysis for major clinical events in heterozygous female patients with Fabry disease using group consensus phenotype classifications from hemizygous male patients". Molecular Genetics and Metabolism | WORLDSymposiumTM 2018 Program and Abstracts 123 2 (2018): S65-S66. http://dx.doi.org/10.1016/j.ymgme.2017.12.160.
    Published • 10.1016/j.ymgme.2017.12.160
  24. Carmo, Rute; Castro-Ferreira, I.; Oliveira, JP. "Lecithin-cholesterol acyltransferase deficiency: a review for clinical nephrologists". Portuguese Journal of Nephrology & Hypertension 31 4 (2018): 286-292. http://www.bbg01.com/cdn/rsc/spnefro/pjnh/66/10Nefro314REVIEW1.pdf.
    Open access • Published
  25. Germain, Dominique P.; Oliveira, João P.; Bichet, Daniel G.; Yoo, Han-Wook; Gruskin, Daniel J.; Hopkin, Robert J.; Lemay, Roberta; et al. "100. A Fabry genotype-phenotype working group initiative: classifying GLA mutations for male patients in the Fabry Registry". Molecular Genetics and Metabolism | WORLDSymposiumTM 2017 Program and Abstracts 120 1-2 (2017): S51. http://dx.doi.org/10.1016/j.ymgme.2016.11.109.
    Published • 10.1016/j.ymgme.2016.11.109
  26. Tavares, I.; Oliveira, J.P.; Pinho, A.; Moreira, L.; Rocha, L.; Santos, J.; Pinheiro, J.; Costa, P.P.; Lobato, L.. "Unrecognized Fibrinogen A a-Chain Amyloidosis: Results From Targeted Genetic Testing". American Journal of Kidney Diseases 70 2 (2017): 235-243. http://www.scopus.com/inward/record.url?eid=2-s2.0-85016198570&partnerID=MN8TOARS.
    10.1053/j.ajkd.2017.01.048
  27. Monteiro, A.; Massano, J.; Leão, M.; Garrett, C.; Moura, C.; Azevedo, E.; Guimarães, J.; Oliveira, J.P.; Castro, P.. "Genetic study of primary dystonias: Recommendations from the centro hospitalar São João neurogenetics group | Estudo genético nas distonias primárias: Recomendações do grupo de neurogenética do centro hospitalar São João". Acta Medica Portuguesa 30 4 (2017): 340-346. http://www.scopus.com/inward/record.url?eid=2-s2.0-85018370148&partnerID=MN8TOARS.
    10.20344/amp.8622
  28. Massano, J.; Leão, M.; Garrett, C.; Moura, C.; Azevedo, E.; Guimarães, J.; Oliveira, J.P.; Castro, P.. "Investigation of genetic etiology in neurodegenerative dementias: Recommendations from the centro hospitalar São João neurogenetics group | Investigação de etiologia genética nas demências neurodegenerativas: Recomendações do grupo de neurogenética do centro hospitalar São João". Acta Medica Portuguesa 29 10 (2016): 675-679. http://www.scopus.com/inward/record.url?eid=2-s2.0-84994159031&partnerID=MN8TOARS.
    10.20344/amp.7583
  29. Ortiz, A.; Abiose, A.; Bichet, D.G.; Cabrera, G.; Charrow, J.; Germain, D.P.; Hopkin, R.J.; et al. "Time to treatment benefit for adult patients with Fabry disease receiving agalsidase ß: Data from the Fabry Registry". Journal of Medical Genetics 53 7 (2016): 495-502. http://www.scopus.com/inward/record.url?eid=2-s2.0-84979211037&partnerID=MN8TOARS.
    10.1136/jmedgenet-2015-103486
  30. Ferreira, Susana; Viana-Baptista, Miguel; Rodrigues, Daniel; Oliveira, Joao Paulo. "Individuals With Normal GLA Gene Sequence May Present Abnormally Spliced Alpha-Galactosidase mRNA Transcripts". Gene, Cell and Tissue 3 1 (2015): http://dx.doi.org/10.5812/gct.14832.
    Published • 10.5812/gct.14832
  31. Susana Ferreira; Christiane Auray-Blais; Michel Boutin; Pamela Lavoie; José Pedro Nunes; Elisabete Martins; Scott Garman; João Paulo Oliveira. "Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma". Clinica Chimica Acta 447 (2015): 96-104. http://dx.doi.org/10.1016/j.cca.2015.06.003.
    10.1016/j.cca.2015.06.003
  32. van der Tol, L.; Svarstad, E.; Ortiz, A.; Tøndel, C.; Oliveira, J.P.; Vogt, L.; Waldek, S.; et al. "Chronic kidney disease and an uncertain diagnosis of Fabry disease: Approach to a correct diagnosis". Molecular Genetics and Metabolism 114 2 (2015): 242-247. http://www.scopus.com/inward/record.url?eid=2-s2.0-84921672014&partnerID=MN8TOARS.
    10.1016/j.ymgme.2014.08.007
  33. Nabais Sá, M.J.; Sampaio, S.; Oliveira, A.; Alves, S.; Moura, C.P.; Silva, S.E.; Castro, R.; et al. "Collagen type IV-related nephropathies in Portugal: Pathogenic COL4A5 mutations and clinical characterization of 22 families". Clinical Genetics 88 5 (2015): 462-467. http://www.scopus.com/inward/record.url?eid=2-s2.0-84943302646&partnerID=MN8TOARS.
    10.1111/cge.12522
  34. Nabais Sá, M.J.; Storey, H.; Flinter, F.; Nagel, M.; Sampaio, S.; Castro, R.; Araújo, J.A.; et al. "Collagen type IV-related nephropathies in Portugal: Pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families". Clinical Genetics 88 5 (2015): 456-461. http://www.scopus.com/inward/record.url?eid=2-s2.0-84943232776&partnerID=MN8TOARS.
    10.1111/cge.12521
  35. Ferreira, S.; Ortiz, A.; Germain, D.P.; Viana-Baptista, M.; Caldeira-Gomes, A.; Camprecios, M.; Fenollar-Cortés, M.; et al. "The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: Data from individual patients and family studies". Molecular Genetics and Metabolism 114 2 (2015): 248-258. http://www.scopus.com/inward/record.url?eid=2-s2.0-84921670805&partnerID=MN8TOARS.
    10.1016/j.ymgme.2014.11.004
  36. Martins, E.; Oliveira, J.P.. "More on noncompaction in Fabry's disease". Revista Portuguesa de Cardiologia 34 4 (2015): 301-303. http://www.scopus.com/inward/record.url?eid=2-s2.0-84928215353&partnerID=MN8TOARS.
    10.1016/j.repc.2015.03.003
  37. Biegstraaten, M.; Arngrímsson, R.; Barbey, F.; Boks, L.; Cecchi, F.; Deegan, P.B.; Feldt-Rasmussen, U.; et al. "Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: The European Fabry Working Group consensus document". Orphanet Journal of Rare Diseases 10 1 (2015): http://www.scopus.com/inward/record.url?eid=2-s2.0-84961291260&partnerID=MN8TOARS.
    10.1186/s13023-015-0253-6
  38. Rosária Rodrigues; Bruno Oliveira; Sofia Pedroso; J Nunes Azevedo; Pedro Azevedo; Oliveira, JP; Fátima Silva; et al. "Predictive value of bioelectrical impedance analysis parameters in the mortality of patients on haemodialysis". Portuguese Journal of Nephrology & Hypertension 28 4 (2014): 309-317. http://www.scielo.mec.pt/pdf/nep/v28n4/28n4a06.pdf.
    Open access • Published
  39. Isabel Tavares; Raquel Vaz; Luciana Moreira; Pedro Rodrigues Pereira; Susana Sampaio; J Ramón Vizcaíno; Oliveira, JP; Paulo Pinho Costa; Luísa Lobato. "Renal amyloidosis: classification of 102 consecutive cases". Portuguese Journal of Nephrology & Hypertension 28 3 (2014): 201-209. http://www.bbg01.com/cdn/clientes/spnefro/pjnh/50/artigo_03.pdf.
    Open access • Published
  40. Oliveira, JP. "Nosology, diagnosis and recent advances on the understanding of the genetic epidemiology of Alport syndrome and related collagen type IV glomerulopathies". Portuguese Journal of Nephrology & Hypertension 28 1 (2014): 87-91. http://www.bbg01.com/cdn/clientes/spnefro/pjnh/48/artigo_13.pdf.
    Open access • Published
  41. van der Tol, Linda; Biegstraaten, Marieke; Florquin, Sandrine; Vogt, Liffert; van den Bergh Weerman, Marius A.; Hollak, Carla E.M.; Hughes, Derralynn A.; et al. "257. Consensus recommendation on Fabry disease diagnosis in adult patients with kidney disease". Molecular Genetics and Metabolism | Program and Abstracts Lysosomal Disease Network's WORLD SymposiumTM 2014 111 2 (2014): S108-S109. http://dx.doi.org/10.1016/j.ymgme.2013.12.270.
    Published • 10.1016/j.ymgme.2013.12.270
  42. Seabra, C.M.; Quental, S.; Neto, A.P.; Carvalho, F.; Gonçalves, J.; Oliveira, J.P.; Fernandes, S.; et al. "A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia". Reproductive BioMedicine Online 29 3 (2014): 388-391. http://www.scopus.com/inward/record.url?eid=2-s2.0-84926222251&partnerID=MN8TOARS.
    10.1016/j.rbmo.2014.04.017
  43. Martins, E.; Pinho, T.; Carpenter, S.; Leite, S.; Garcia, R.; Madureira, A.; Oliveira, J.P.. "Histopathological evidence of Fabry disease in a female patient with left ventricular noncompaction". Revista Portuguesa de Cardiologia 33 9 (2014): 565.e1-565.e6. http://www.scopus.com/inward/record.url?eid=2-s2.0-84908180858&partnerID=MN8TOARS.
    10.1016/j.repc.2014.02.021
  44. Weidemann, F.; Sanchez-Niño, M.D.; Politei, J.; Oliveira, J.-P.; Wanner, C.; Warnock, D.G.; Ortiz, A.. "Fibrosis: A key feature of Fabry disease with potential therapeutic implications". Orphanet Journal of Rare Diseases 8 1 (2013): http://www.scopus.com/inward/record.url?eid=2-s2.0-84881046462&partnerID=MN8TOARS.
    10.1186/1750-1172-8-116
  45. Sá, M.J.N.; Fieremans, N.; De Brouwer, A.P.M.; Sousa, R.; Costa, F.T.; Brito, M.J.; Carvalho, F.; et al. "Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome". Journal of Medical Genetics 50 11 (2013): 745-753. http://www.scopus.com/inward/record.url?eid=2-s2.0-84890231294&partnerID=MN8TOARS.
    10.1136/jmedgenet-2013-101670
  46. Azevedo, E.; Mendes, A.; Seixas, D.; Santos, R.; Castro, P.; Ayres-Basto, M.; Rosengarten, B.; Oliveira, J.P.. "Functional transcranial doppler: Presymptomatic changes in fabry disease". European Neurology 67 6 (2012): 331-337. http://www.scopus.com/inward/record.url?eid=2-s2.0-84860855551&partnerID=MN8TOARS.
    10.1159/000337906
  47. Carvalho, B.; Pereira, M.; Marques, C.J.; Carvalho, D.; Leão, M.; Oliveira, J.P.; Barros, A.; Carvalho, F.. "Comprehensive genetic analysis and structural characterization of CYP21A2 mutations in CAH patients". Experimental and Clinical Endocrinology and Diabetes 120 9 (2012): 535-539. http://www.scopus.com/inward/record.url?eid=2-s2.0-84867534934&partnerID=MN8TOARS.
    10.1055/s-0032-1323805
  48. Valbuena, C.; Leitão, D.; Carneiro, F.; Oliveira, J.P.. "Erratum to: Immunohistochemical diagnosis of Fabry nephropathy and localisation of globotriaosylceramide deposits in paraffin-embedded kidney tissue sections". Virchows Archiv (2012): 1-2. http://www.scopus.com/inward/record.url?eid=2-s2.0-84856099273&partnerID=MN8TOARS.
    10.1007/s00428-012-1196-0
  49. Valbuena, C.; Leitão, D.; Carneiro, F.; Oliveira, J.P.. "Immunohistochemical diagnosis of Fabry nephropathy and localisation of globotriaosylceramide deposits in paraffin-embedded kidney tissue sections". Virchows Archiv 460 2 (2012): 211-221. http://www.scopus.com/inward/record.url?eid=2-s2.0-84859936324&partnerID=MN8TOARS.
    10.1007/s00428-011-1182-y
  50. Warnock, David G.; Ortiz, Alberto; Mauer, Michael; Linthorst, Gabor E.; Oliveira, Joao P.; Serra, Andreas L.; Marodi, Laszlo; et al. "Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation". Nephrology Dialysis Transplantation 27 3 (2012): 1042-1049. https://publons.com/publon/5042483/.
    10.1093/NDT/GFR420
  51. Valbuena, C.; Oliveira, J.P.; Carneiro, F.; Relvas, S.; Ganhão, M.; Sá-Miranda, M.C.; Rodrigues, L.G.. "Kidney histologic alterations in a-galactosidase-deficient mice". Virchows Archiv 458 4 (2011): 477-486. http://www.scopus.com/inward/record.url?eid=2-s2.0-79956224824&partnerID=MN8TOARS.
    10.1007/s00428-011-1051-8
  52. Morais, P.; Mota, A.; Baudrier, T.; Trigo, F.; Oliveira, J.P.; Cerqueira, R.; Palmeiro, A.; Tavares, P.; Azevedo, F.. "Erythropoietic protoporphyria: A family study and report of a novel mutation in the FECH gene". European Journal of Dermatology 21 4 (2011): 479-483. http://www.scopus.com/inward/record.url?eid=2-s2.0-80053025490&partnerID=MN8TOARS.
    10.1684/ejd.2011.1361
  53. Oliveira, J.P.; Valbuena, C.; Moreira, A.B.; Fonseca, E.; Soares, C.; Teles, E.L.; Waldek, S.. "Erratum: Splenomegaly, hypersplenism and peripheral blood cytopaenias in patients with classical Anderson-Fabry disease (Virchows Archiv (2008) 453 (291-300) DOI: 10.1007/s00428-008-0651-4)". Virchows Archiv 459 5 (2011): 555-556. http://www.scopus.com/inward/record.url?eid=2-s2.0-80855123606&partnerID=MN8TOARS.
    10.1007/s00428-011-1146-2
  54. Wanner, C.; Oliveira, J.P.; Ortiz, A.; Mauer, M.; Germain, D.P.; Linthorst, G.E.; Serra, A.L.; et al. "Prognostic indicators of renal disease progression in adults with fabry disease: Natural history data from the Fabry Registry". Clinical Journal of the American Society of Nephrology 5 12 (2010): 2220-2228. https://doi.org/10.2215/CJN.04340510.
    Open access • Published • 10.2215/CJN.04340510
  55. Ortiz, A.; Cianciaruso, B.; Cizmarik, M.; Germain, D.P.; Mignani, R.; Oliveira, J.P.; Villalobos, J.; et al. "End-stage renal disease in patients with Fabry disease: Natural history data from the Fabry Registry". Nephrology Dialysis Transplantation 25 3 (2010): 769-775. https://doi.org/10.1093/ndt/gfp554.
    Published • 10.1093/ndt/gfp554
  56. Warnock, David; Ortiz, Alberto; Cianciaruso, Bruno; Cizmarik, Marta; Germain, Dominique; Mignani, Renzo; Oliveira, Joao Paulo; et al. "143. End stage renal disease in patients with Fabry disease: Natural history data from the Fabry registry". Molecular Genetics and Metabolism | Abstracts for the Lysosomal Disease Network's WORLD Symposium 2010 99 2 (2010): S38. http://dx.doi.org/10.1016/j.ymgme.2009.10.160.
    Published • 10.1016/j.ymgme.2009.10.160
  57. Mignani, Renzo; Feriozzi, Sandro; Schaefer, Roland M.; Breunig, Frank; Oliveira, João Paulo; Ruggenenti, Piero; Sunder-Plassmann, Gere. "Dialysis and Transplantation in Fabry Disease: Indications for Enzyme Replacement Therapy". Clinical Journal of the American Society of Nephrology 5 2 (2010): 379-385. http://dx.doi.org/10.2215/cjn.05570809.
    Open access • Published • 10.2215/cjn.05570809
  58. Baptista, M.V.; Ferreira, S.; Pinho-E-Melo, T.; Carvalho, M.; Cruz, V.T.; Carmona, C.; Silva, F.A.; et al. "Mutations of the GLA Gene in Young Patients with Stroke: The PORTYSTROKE Study-Screening Genetic Conditions in PORTuguese Young STROKE Patients". Stroke 41 3 (2010): 431-436. http://www.scopus.com/inward/record.url?eid=2-s2.0-77649086331&partnerID=MN8TOARS.
    10.1161/STROKEAHA.109.570499
  59. Auray-Blais, C.; Ntwari, A.; Clarke, J.T.R.; Warnock, D.G.; Oliveira, J.P.; Young, S.P.; Millington, D.S.; et al. "How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?". Clinica Chimica Acta 411 23-24 (2010): 1906-1914. http://www.scopus.com/inward/record.url?eid=2-s2.0-77957756430&partnerID=MN8TOARS.
    10.1016/j.cca.2010.07.038
  60. Torra, R.; Oliveira, J.P.; Ortiz, A.. "UGA hopping: A sport for nephrologists too?". Nephrology Dialysis Transplantation 25 8 (2010): 2391-2395. http://www.scopus.com/inward/record.url?eid=2-s2.0-77954806635&partnerID=MN8TOARS.
    10.1093/ndt/gfq301
  61. Fogo, A. B.; Bostad, L.; Svarstad, E.; Cook, W. J.; Moll, S.; Barbey, F.; Geldenhuys, L.; et al. "Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN)". Nephrology Dialysis Transplantation 25 7 (2009): 2168-2177. http://dx.doi.org/10.1093/ndt/gfp528.
    10.1093/ndt/gfp528
  62. Öqvist, B.; Brenner, B.M.; Oliveira, J.P.; Ortiz, A.; Schaefer, R.; Svarstad, E.; Wanner, C.; Zhang, K.; Warnock, D.G.. "Nephropathy in Fabry disease: The importance of early diagnosis and testing in high-risk populations". Nephrology Dialysis Transplantation 24 6 (2009): 1736-1743. http://www.scopus.com/inward/record.url?eid=2-s2.0-67651111995&partnerID=MN8TOARS.
    10.1093/ndt/gfp105
  63. Ferreira, S.; Valbuena, C.; Carvalho, F.; Oliveira, J.P.. "Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.". Human genetics 126 2 (2009): http://www.scopus.com/inward/record.url?eid=2-s2.0-69849103601&partnerID=MN8TOARS.
  64. Machado, A.P.; Ramalho, C.; Loureiro, T.; Cunha, M.; Dória, S.; Carvalho, F.; Oliveira, J.P.; Brandão, O.; Matias, A.. "Phenotypic expression in the first case of complete trisomy 12: Combination of prenatal ultrasound and necropsic examination". Fetal Diagnosis and Therapy 25 2 (2009): 234-238. http://www.scopus.com/inward/record.url?eid=2-s2.0-66149118990&partnerID=MN8TOARS.
    10.1159/000222666
  65. Balreira, A.; Macedo, M.F.; Girão, C.; Rodrigues, L.G.; Oliveira, J.P.; Sá Miranda, M.C.; Arosa, F.A.. "Anomalies in conventional T and invariant natural killer T-cell populations in Fabry mice but not in Fabry patients". British Journal of Haematology 143 4 (2008): 601-604. http://www.scopus.com/inward/record.url?eid=2-s2.0-54849425572&partnerID=MN8TOARS.
    10.1111/j.1365-2141.2008.07380.x
  66. Oliveira, J.P.; Ferreira, S.; Reguenga, C.; Carvalho, F.; Månsson, J.E.; Oliveira, JP; Ferreira, S; et al. "The g.1170C>T polymorphism of the 5' untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression--evidence from a family study.". Journal of inherited metabolic disease 31 Suppl 2 (2008): http://www.scopus.com/inward/record.url?eid=2-s2.0-84855567053&partnerID=MN8TOARS.
    10.1007/s10545-008-0972-0
  67. Oliveira, J.P.; Ferreira, S.; Barceló, J.; Gaspar, P.; Carvalho, F.; Sá Miranda, M.C.; Månsson, J.-E.. "Effect of single-nucleotide polymorphisms of the 5' untranslated region of the human a-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians". Journal of Inherited Metabolic Disease 31 SUPPL. 2 (2008): http://www.scopus.com/inward/record.url?eid=2-s2.0-84855578942&partnerID=MN8TOARS.
    10.1007/s10545-008-0818-9
  68. Morais, P.; Santos, A.L.; Baudrier, T.; Mota, A.V.; Oliveira, J.P.; Azevedo, F.. "Angiokeratomas of Fabry successfully treated with intense pulsed light". Journal of Cosmetic and Laser Therapy 10 4 (2008): 218-222. http://www.scopus.com/inward/record.url?eid=2-s2.0-57849095374&partnerID=MN8TOARS.
    10.1080/14764170802275832
  69. Oliveira, J.P.; Valbuena, C.; Baldaia Moreira, A.; Fonseca, E.; Soares, C.; Leão Teles, E.; Waldek, S.. "Splenomegaly, hypersplenism and peripheral blood cytopaenias in patients with classical Anderson-Fabry disease". Virchows Archiv 453 3 (2008): 291-300. http://www.scopus.com/inward/record.url?eid=2-s2.0-51749086113&partnerID=MN8TOARS.
    10.1007/s00428-008-0651-4
  70. Valbuena, C.; Carvalho, E.; Bustorff, M.; Ganhão, M.; Relvas, S.; Nogueira, R.; Carneiro, F.; Oliveira, J.P.. "Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy". Virchows Archiv 453 4 (2008): 329-338. http://www.scopus.com/inward/record.url?eid=2-s2.0-52649095922&partnerID=MN8TOARS.
    10.1007/s00428-008-0653-2
  71. Wilcox, W.R.; Oliveira, J.P.; Hopkin, R.J.; Ortiz, A.; Banikazemi, M.; Feldt-Rasmussen, U.; Sims, K.; et al. "Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry". Molecular Genetics and Metabolism 93 2 (2008): 112-128. http://www.scopus.com/inward/record.url?eid=2-s2.0-38049036770&partnerID=MN8TOARS.
    10.1016/j.ymgme.2007.09.013
  72. Ortiz, A.; Oliveira, J.P.; Waldek, S.; Warnock, D.G.; Cianciaruso, B.; Wanner, C.. "Nephropathy in males and females with Fabry disease: Cross-sectional description of patients before treatment with enzyme replacement therapy". Nephrology Dialysis Transplantation 23 5 (2008): 1600-1607. http://www.scopus.com/inward/record.url?eid=2-s2.0-44449143398&partnerID=MN8TOARS.
    10.1093/ndt/gfm848
  73. Ortiz, A.; Oliveira, J.P.; Wanner, C.; Brenner, B.M.; Waldek, S.; Warnock, D.G.. "Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults". Nature Clinical Practice Nephrology 4 6 (2008): 327-336. http://www.scopus.com/inward/record.url?eid=2-s2.0-44449115633&partnerID=MN8TOARS.
    10.1038/ncpneph0806
  74. Ferreira, S.; Fontoura, P.; Guerreiro, R.; Oliveira, J.P. (9E10-FE6E-1CEE). "Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)". Human Genetics 121 5 (2007): 649-650. https://pubmed.ncbi.nlm.nih.gov/17879447/.
    Published
  75. Ferreira, S.; Malheiro, F.; Oliveira, J.P.. "Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant aretriopathy with subcortical infarcts and leukoencephalopathy.". Human Genetics 121 5 (2007): 651-652. https://pubmed.ncbi.nlm.nih.gov/17879453/.
    Published
  76. Ferreira, S.; Costa, C.; Oliveira, J.P.. "Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).". Human Genetics 121 5 (2007): 649-649. https://pubmed.ncbi.nlm.nih.gov/17879445/.
    Published
  77. Ferreira, S.; Silva, R.S.; Oliveira, J.P. (9E10-FE6E-1CEE). "Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).". Human Genetics 121 5 (2007): 649-649. https://pubmed.ncbi.nlm.nih.gov/17879446/.
    Published
  78. Oliveira, J.P.. "Staging of Fabry disease using renal biopsies". Clinical Therapeutics 29 Suppl. A (2007): S15-S16. https://doi.org/10.1016/S0149-2918(07)80121-4.
    Published • 10.1016/S0149-2918(07)80121-4
  79. Bergmann, C.; Senderek, J.; Windelen, E.; Küpper, F.; Middeldorf, I.; Schneider, F.; Dornia, C.; et al. "Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)". Kidney International 67 3 (2005): 829-848. http://www.scopus.com/inward/record.url?eid=2-s2.0-20144375384&partnerID=MN8TOARS.
    10.1111/j.1523-1755.2005.00148.x
  80. Kosch, M.; Koch, H.-G.; Oliveira, J.P.; Soares, C.; Bianco, F.; Breuning, F.; Rasmussen, Å.K.; Schaefer, R.M.. "Enzyme replacement therapy administered during hemodialysis in patients with Fabry disease". Kidney International 66 3 (2004): 1279-1282. http://www.scopus.com/inward/record.url?eid=2-s2.0-4344671895&partnerID=MN8TOARS.
    10.1111/j.1523-1755.2004.00883.x
  81. Harris, R.; Oliveira, J.P.; Santos, H.G.. "Formal recognition of the speciality of Medical Genetics in Portugal". European Journal of Human Genetics 8 1 (2000): http://www.scopus.com/inward/record.url?eid=2-s2.0-0033994383&partnerID=MN8TOARS.
    10.1038/sj.ejhg.5200408
  82. Carla Moura; Oliveira, JP. "Progressos na compreensão da patologia molecular da síndrome de Turner e da síndrome de Down (ou de ratinhos, mosquinhas e de cromossomas humanos)". Perspectivas em Prática Médica 4 4 (1999): 5-8.
    Published
  83. Maria João Carinhas; José Pombeiro; Carlos Ramos; Oliveira, JP; Rogério Mendes; Manuel Dias; Almeida Costa. "Esclerose tuberosa: uma causa de morte perinatal". Arquivos de Medicina 12 1 (1998): 16-19.
    Published
  84. Oliveira, JP; Clara Almeida. "Insuficiência renal crónica e hipertensão arterial na doença renal policística autossómica dominante". Perspectivas em Prática Médica 3 2 (1998): 31-36.
    Published
  85. Oliveira, JP. "Patologia molecular da doença renal policística autossómica dominante: avanços recentes e consequências em clínica genética". Perspectivas em Prática Médica 2 2 (1997): 9-12.
    Published
  86. Oliveira, JP; Manuela Fontoura. "Doença renal policística autossómica dominante: aspectos epidemiológicos, de diagnóstico e genéticos". Perspectivas em Prática Médica 2 3 (1997): 27-32.
    Published
  87. Oliveira, JP; Nunes, J.P.; Faria, M.S.; Costa, E.; Oliveira, J.P.; Carneiro, F.; Monteiro, M.C.; Faria, V.. "Reversible renal failure and SZ alpha1-antitrypsin phenotype. Association with liver disease and ethanol abuse". Nephrology Dialysis Transplantation 10 12 (1995): 2340-2342. http://www.scopus.com/inward/record.url?eid=2-s2.0-0029608779&partnerID=MN8TOARS.
    10.1093/oxfordjournals.ndt.a091015
  88. Bustorff, M.M.; Oliveira, J.P.; Moura, C.; Carvalho, E.; Faria, V.; Guerra, L.. "Muckle-Wells syndrome nephropathy: Lack of response to colchicine therapy". Nephrology Dialysis Transplantation 10 5 (1995): 709-710. http://www.scopus.com/inward/record.url?eid=2-s2.0-0029033483&partnerID=MN8TOARS.
    10.1093/oxfordjournals.ndt.a091203
  89. Barros, H.; Pignatelli, D.; Pereira, S.; Oliveira, J.P.; Costa Maia, J.. "Risk of diabetes in the families of insulin-treated diabetes cases | Risco de Diabetes Mellitus em familiares de diabéticos tratados com insulina". Acta Medica Portuguesa 7 6 (1994): 349-352. http://www.scopus.com/inward/record.url?eid=2-s2.0-0028071862&partnerID=MN8TOARS.
    Published
  90. Miguel Leal; Nunes Azevedo; Pedro Neves; Oliveira, JP; Teresa Morgado; A Marques da Costa. "Estudo cooperativo sobre Doença Renal Poliquística (forma Autossómica Dominante)". Revista Portuguesa de Nefrologia e Hipertensão 6 3 (1992): 187-194.
    Published
  91. Oliveira, JP; Jardim, H; Leao, M; Vasconcelos, MJ; Barreiros, M. "Posterior urethral valves with polydactyly: case report of a six year old boy.". Progress in clinical and biological research 305 (1989): 25-26.
    Published
  92. Rocha, J.; Amorim, A.; Almeida, V.M.; Oliveira, J.P.; Leão, M.; Tavares, M.C.; Pereira, M.S.; Vidal-Pinheiro, L.. "Gene dosage evidence for the regional assignment of GPT (glutamate-pyruvate transaminase; E. C. 2.6.1.2) locus to 8q24.2-->8qter". Human Genetics 80 3 (1988): 299-300. http://www.scopus.com/inward/record.url?eid=2-s2.0-0023745249&partnerID=MN8TOARS.
    Published • 10.1007/BF01790102
Preprint
  1. Roberto Silva; Jorge Reis Almeida; Ana Rita Coelho; Isabel Brandão; Bárbara Gomes; Inês Soares Alencastre; João Paulo Oliveira. "Peroxidasin expression is increased in intratumoural capillaries and in proximal tubular cells adjacent to clear cell renal cell carcinoma". 2024. https://doi.org/10.1101/2024.11.15.623667.
    10.1101/2024.11.15.623667
  2. Isabel Brandão; Roberto Silva; Eduardo Conde; Bárbara Gomes; Paula Sampaio; Ana Costa Braga; Jorge Reis Almeida; Inês Soares Alencastre; João Paulo Oliveira. "Characterization of peroxidasin expression in histologically normal human adult and fetal kidney tissue". 2023. https://doi.org/10.1101/2023.12.21.572848.
    10.1101/2023.12.21.572848
Thesis / Dissertation
  1. Oliveira, JP. "Fabry Disease: Studies on the Phenotypic Expression, Diagnosis and Therapy". PhD, Universidade do Porto Faculdade de Medicina, 2008.
  2. "Resposta Imunológica à Infecção pelo Vírus da Hepatite B - Análise de Factores Genéticos e Imunogenéticos". Master, Universidade do Porto Faculdade de Medicina, 1990.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2024/10/18 Patologia Nefro-Urológica Isolada: Marcador de Doença Genética? Reunião Anual da Associação Portuguesa de Diagnóstico Pré-Natal - 2024
Associação Portuguesa de Diagnóstico Pré-Natal (APDPN) (Viseu, Portugal)
2023/05/26 Critical points in understanding pathogenicity and X-chromosome inactivation New Horizons in Fabry Disease: International Conference on Advances in the Treatment of Fabry Disease
Czech Medical Academy (Prag, Czech Republic)
2022/11/19 Analysis of peroxidasin expression in IgA nephropathy: association with renal fibrosis and disease progression Encontro Renal de 2022 - XXXVI Congresso da Sociedade Portuguesa de Nefrologia
Sociedade Portuguesa de Nefrologia (Quarteira / Vilamoura, Portugal)
2022/07/22 Fabry Disease: From Genotypes to Phenotypes 2nd Workshop on Sphingolipids in Health and Disease
Universidade de Aveiro, Departamento de Ciências Médicas (Aveiro, Portugal)
2022/06/04 Doença de Fabry: uma doença multifacetada - quem tratar, quando tratar e a importância da monitorização IX Simpósio «Doenças Raras Sintomas Comuns»
Sanofi Portugal (Porto, Portugal)
2022/04/04 A deeper look into de multidomain phenotype concept and modulators in Fabry disease 6th Nordic Fabry Expert Group Meeting
Nordic Fabry Expert Group | University of Bergen, Norway (Bergen, Norway)
2021/11/19 Doença de Fabry 2ª Reunião Virtual SPNP'21
Sociedade Portuguesa de Nefrologia Pediátrica ((Virtual), Portugal)
2021/10/01 Como pensar e diagnosticar doenças monogênicas renais raras XXI Congresso Paulista de Nefrologia
SONESP - Sociedade de Nefrologia do Estado de São Paulo ((Virtual), Brazil)
2021/07/29 From the storage cell pathology to organ fibrosis: an update on Fabry nephropathy Fabry Up to Date Seminar (webinar)
SANOFI K.K. ((Webinar), Japan)
2021/06/19 Overcoming the challenges in the management of Fabrys' disease Virtual Fabry Experience Summit
SANOFI-GENZYME, Brasil ((Virtual), Brazil)
2021/04/17 COVID-19 pandemic's impact on healthcare support to people with rare diseases: the example of Fabry disease
SANOFI-Genzyme, Portugal (Porto (Live Roundtable Webinar), Portugal)
2020/02/07 Trends in genetic testing for diagnosis of Fabry disease Fabry disease advisory board - Insights from experts concerning the future of diagnosis, monitoring and treatment
SANOFI-GENZYME, Europe (Madrid, Spain)
2019/11/30 How to diagnose Fabry disease: from the gene defect to the clinical phenotypes Amicus Therapeutics Advisory Board Meeting
Amicus Therapeutics (Matosinhos, Portugal)
2019/11/01 Genotype-phenotype correlation in Fabry disease New Horizons in Fabry Disease: International Conference on Advances in the Treatment of Fabry Disease
Czech Society of Cardiology (Praga, Czech Republic)
2019/10/12 Collagen type IV-related hereditary nephropathies
Mayo Nephrology Collaborative Group / Nephrology Department, Faculty of Medicine of University of Porto (Porto, Portugal)
2019/09/20 Fabry Disease: from the gene defect to the clinical phenotypes Meeting the Experts on Fabry Disease
Shire Pharmaceuticals Portugal (Porto, Portugal)
2019/05/27 Regulation of GLA gene expression and genetic modifiers of alpha-galactosidase deficiency 6th Update on Fabry Disease: Biomarkers, Progression and Treatment Opportunities
First Faculty of Medicine, Charles University, Prague (Praga, Czech Republic)
2019/04/25 Nosologia genética das nefropatias hematúricas familiares Jornada Oswaldo Ramos
UNIFESP - Universidade Federal de São Paulo / Escola Paulista de Medicina / Fundação Oswaldo Ramos (São Paulo, Brazil)
2019/04/23 Genômica e epigenética nas doenças renais Cadernos de Patologia Renal, Anno V - Genómica e diversidade fenotípica
Hospital do Rim, São Paulo (São Paulo, Brazil)
2019/04/05 Síndrome nefrótica e hematúrias familiares V Curso Teórico-Prático de Nefrologia Pediátrica
Unidade de Nefrologia, Hospital Pediátrico – Centro Hospitalar Universitário de Coimbra (Condeixa-a-Nova, Portugal)
2019/02/23 Objectivos terapêuticos na Doença de Fabry VI Simpósio Doenças Raras, Sintomas Comuns - O Direito ao Contraditório
SANOFI-Genzyme, Portugal (Porto, Portugal)
2019/02/20 Correlações genótipo-fenótipo e mecanismos genéticos de doença III Encontro Científico - Genética Humana: do laboratório à clínica
Instituto Politécnico do Porto - Escola Superior de Saúde (Porto, Portugal)
2018/11/30 An update on the ciliopathies | Actualização em ciliopatias
Sociedade Portuguesa de Nefrologia Pediátrica (Porto, Portugal)
2018/10/13 Overview of treatment options for Fabry disease
University Hospital Center Rijeka / Faculty of Medicine, University of Rijeka, Croatia (Opatija, Croatia)
2018/09/18 Therapeutic Goals Iniative 5th Fabry Experr Day in Nephrology
Fundación Jiménez Díaz, Madrid (Madrid, Spain)
2018/09/17 My patient has a GLA variant, is it pathogenic? 5th Fabry Expert Day in Nephrology
Fundación Jiménez Díaz, Madrid (Madrid, Spain)
2018/08/08 Clinical and diagnostic issues in Fabry disease: from the genotype to the spectrum of clinical phenotypes 14th Annual WORLD Symposium / Breakfast Industry Sympsoium
Lysosomal Disease Network / Sanofi Genzyme (San Diego, United States)
2018/03/10 Contrversy: Is a tissue diagnosis necessary for management decisions in Fabry disease? 5th European Fabry Expert Lounge «The Heart of the Matter»
Sanofi Genzyme Europe BV (Madrid, Spain)
2018/03/09 Classical versus non-classical disease: is there really a difference and how should we monitor disease in heart, kidney and brain? 5th European Fabry Expert Lounge «The Heart of the Matter»
Sanofi Genzyme Europe BV (Madrid, Spain)
2018/02/24 The different stakeholders' perspectives on rare/orphan diseases - a personal view V Simpósio Doenças Raras, Sintomas Comuns 2018 - «Haverá só uma resposta?»
SANOFI-Genzyme, Portugal (Porto, Portugal)
2017/10/27 The genetics of kidney diseases: where do we stand? (A clinician's perspective) | A genética das doenças renais: onde estamos? (A perspectiva de um clínico) Curso de Nefrologia Pediátrica - A Criança com Doença Nefro-Urológica
Sociedade Portuguesa de Nefrologia Pediátrica (Lisboa, Portugal)
2017/10/06 Genotype-phenotype correlations in Fabry disease: focus on Fabry nephropathy XIX Congresso Paulista de Nefrologia [Session: Meet the Professor]
SONESP - Sociedade de Nefrologia do Estado de São Paulo (Atibaia, Brazil)
2017/10/05 Overview of Fabry disease and current therapeutic approaches XIX Congresso Paulista de Nefrologia [Genzyme Lunch Symposium]
SONESP - Sociedade de Nefrologia do Estado de São Paulo (Atibais, Brazil)
2017/09/21 Can GLA gene mutations explain the entire spectrum of Fabry disease manifestation: interesting cases 4th Fabry Expert Day in Nephrology
Sanofi Genzyme Europe BV (Frankfurt am Main, Germany)
2017/06/30 Fabry disease: natural history and differential diagnosis in nephrology 4th European Fabry Summer School
Université de Versailles Saint-Quentin-en-Yvelines (Versailles, France)
2017/06/09 Genetic diagnosis and variants of unknown significance in Fabry disease Reunión Nacional de Enfermedades Minoritarias 2017
Instituto Nacional de Enfermedades Minoritarias (Madrid, Spain)
2017/06/04 Phenotype-to-genotype correlation issues of the renal involvement in Fabry disease 54th ERA-EDTA Congress [Sanofi-Genzyme Industry Symposium on Fabry Disease]
European Renal Association - European Dialysis and Transplant Association (ERA-EDTA) (Madrid, Spain)
2017/04/26 Fabry disease: phenotypic variation and mutation analysis
International Society of Nephrology (Cidade do México, Mexico)
2017/04/06 Doença Renal Policística Autossómica Dominante - o que há de novo? Encontro Renal 2017 | XXXI Congresso Português de Nefrologia
Sociedade Portuguesa de Nefrologia (Vilamoura, Portugal)
2017/03/11 Genotype-to-phenotype correlations and modulation of GLA gene expression European Round Table on Fabry Disease 2017
Sanofi Genzyme Europe BV (Berlin, Germany)
2017/02/18 Prevenção primária de doenças hereditárias por diagnóstico genético pré-implantação
SANOFI-Genzyme, Portugal (Figueira da Foz)
2016/10/14 Doenças genéticas e transplante renal XIII Congresso Português de Transplantação | XV Congresso Luso-Brasileiro de Transplantação | II Encontro Ibérico de Transplantação
Sociedade Portuguesa de Transplantação (Porto, Portugal)
2016/10/13 Dissecting the molecular genetic basis of kidney diseases: Where are we? (A clinician’s perspective) iMed Conference® 8.0 | Workshop Genetics - «Genetics in kidney diseases: dissecting the molecular genetic basis»
Associação de Estudantes da Faculdade de Medicina da Universidade Nova de Lisboa (Lisboa, Portugal)
2016/05/12 Genetic diseases of the kidney: where are we? (A clinician’s perspective) 19th Hellenic Congress of Nephrology
Hellenic Society of Nephrology (Kalamata, Greece)
2016/03/18 Fabry disease treatment - the state of the art Sociedade Portuguesa de Doenças Metabólicas, Annual Symposium 2016
Sociedade Portuguesa de Doenças Metabólicas (Coimbra, Portugal)
2016/03/11 GLA 5’UTR and intronic variants: population genetics and possible phenotype-modifying effect 4th European Fabry Disease Expert Lounge 2016 - «Unravelling Fabry disease, improving care» | Session 3: Diagnosis
Sanofi - Genzyme (Amsterdam, Netherlands)
1993/06 One year cumulative incidence of hepatitis C infection in hemodialysis patients XIIth International Congress of Nephrology; Jerusalem, Israel
International Society of Nephrology (Jerusalem, Israel)

Supervision

Thesis Title
Role 		Degree Subject (Type)
Institution / Organization
2012/05/23 - 2018/11/05 Amiloidose por Fibrinogénio: Fenótipo, Genótipo, Tratamento e Prognóstico
Co-supervisor of Isabel Cristina de Pinho Tavares Salomé
Universidade do Porto Faculdade de Medicina, Portugal
2014/05/19 - 2016/06/03 Caracterização de mutações do gene GLA encontradas em jovens doentes Portugueses com AVC
Supervisor
 Programa Doutoral em Neurociências Ramo Neurociências Experimentais (PhD)
Universidade Lusófona do Porto Faculdade de Direito e Ciência Política, Portugal
2009 - 2014/05/08 Alport syndrome - Clinical and molecular study of portuguese families
Supervisor
 Patologia e Genética Molecular (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2006/10/18 - 2012/05/04 Fabry disease: pathogenesis and histopathology
Supervisor
 Programa Doutoral em Medicina (PhD)
Universidade do Porto Faculdade de Medicina, Portugal

Event organisation

Event name
Type of event (Role) 		Institution / Organization
2016/01/22 - 2016/03/12 Scientific Committee | European Fabry Disease Expert Lounge 2016: «Unravelling Fabry disease, improving care», Amsterdam, The Netherlands (2016/03/11 - 2016/03/12)
Other (Member of the Scientific Committee)
 Sanofi Genzyme Europe BV, Netherlands

Event participation

Activity description
Type of event 		Event name
Institution / Organization
2024/12/06 - 2034/12/06 28ª Reunião Anual, Sociedade Portuguesa de Genética Humana: Dia 2
Meeting
 28ª Reunião Anual | 28th Annual Meeting, Sociedade Portuguesa de Genética Humana
Sociedade Portuguesa de Genética Humana, Portugal
2024/11/15 - 2024/11/15 Sessão de Comemoração dos 25 Anos do Serviço de Genética Médica do Hospital de Santa Maria (Lisboa)
Other
 Sessão de Comemoração dos 25 Anos do Serviço de Genética Médica
Unidade Local de Saúde Santa Maria, Portugal
2024/11/15 - 2024/11/15 Moderador da Sessão «Para onde Vamos» | Sessão de Comemoração dos 25 Anos do Serviço de Genética Médica | Palestrantes: Sofia Douzgou Houge, Jorge Saraiva
Other
 Sessão de Comemoração dos 25 Anos do Serviço de Genética Médica
Unidade Local de Saúde Santa Maria, Portugal
2024/10/18 - 2024/10/18 Palestrante | Mesa-Redonda 1 - Atualização em Patologia Nefro-Urológica | Reunião Anual da Associação Portuguesa de Diagnóstico Pré-Natal - 2024 | Moderadores: Nuno Pereira, Ana Teresa Martins | Palestrantes: Magda Magalhães, Bruno Carrilho, João Paulo Oliveira
Meeting
 Reunião Anual da Associação Portuguesa de Diagnóstico Pré-Natal - 2024
Associação Portuguesa de Diagnóstico Pré-Natal (APDPN), Portugal
2024/06/14 - 2024/06/15 Mayo Clinic Update, Porto, Portugal: Day 1
Other
 Mayo Clinic Update - Oporto
Mayo Clinic Division of Nephrology and Hypertension, United States

Instituto Português de Oncologia do Porto Francisco Gentil EPE, Portugal
2024/06/13 - 2024/06/15 5th International Gastric Cancer Linkage Consortium Meeting - Hereditary Diffuse Gastric & Lobular Breast Cancer Syndrome Consensus Clinical Guidelines Meeting, Porto, Portugal: Day 1
Meeting
 5th International Gastric Cancer Linkage Consortium Meeting (IGCLC) - Hereditary Diffuse Gastric & Lobular Breast Cancer Syndrome Consensus Clinical Guidelines Meeting
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal

Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
2024/06/14 - 2024/06/14 Chair with: Joaquim Calado | Conference: «Genetic Testing in the Nephrology Practice» | Mayo Clinic Update, Oporto | Speaker: Filippo Pinto e Vairo
Other
 Mayo Clinic Update - Oporto
Mayo Clinic Division of Nephrology and Hypertension, United States

Instituto Português de Oncologia do Porto Francisco Gentil EPE, Portugal
2024/06/02 - 2024/06/04 8th Update on Fabry Disease: «Biomarkers, Progression and Treatment Opportunities», Hamburg, Germany
Meeting
 8th Update on Fabry Disease: «Biomarkers, Progression and Treatment Opportunities», Hamburg
Kidneys For Life, United Kingdom
2024/06/02 - 2024/06/02 Chair with: Yoshikatsu Eto, Derralyn Hughes | Session 1: «New Treatment Approaches for Fabry Disease» | 8th Update on Fabry Disease | Speakers: Mark Roberts; James Moon; Sharon Ricardo; HaeminChon; Rizwana Islam; Ittetsu Nakajima
Meeting
 8th Update on Fabry Disease: «Biomarkers, Progression and Treatment Opportunities»
Kidneys For Life, United Kingdom
2024/03/15 - 2024/03/15 i3S Friday Noon Seminar | Angus Clarke; Cardiff University, United Kingdom
Seminar
 Genetic counselling and the communication of risk information within the family
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2024/03/15 - 2024/03/15 Seminário e Workshop, Projecto «Decide» | Angus Clarke, Shane Doheny; Cardiff University, United Kingdom
Workshop
 Trajectories of patient decision-making about genetic testing
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal

Instituto de Biologia Molecular e Celular - Centro de Genética Preditiva e Preventiva, Portugal
2024/03/04 - 2024/03/05 Workshop 3 - Estratégia Portuguesa para a Medicina Genómica (PT_MedGen) Organização eficiente dos Serviços Clínicos no contexto da Medicina Genómica
NTT DATA Portugal, Portugal

Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2024/02/16 - 2024/02/16 i3S Satellite Seminar | Luiz Moura; Universidade Federal de São Paulo e Fundação Oswaldo Ramos, Brasil
Seminar
 Ora direis ouvir estrelas...
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2024/01/23 - 2024/01/23 Workshop 2 - Estratégia Portuguesa para a Medicina Genómica (PT_MedGen)
Workshop
NTT DATA Portugal, Portugal

Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2024/01/22 - 2024/01/22 Workshop 1 - Estratégia Portuguesa para a Medicina Genómica (PT_MedGen)
Workshop
 Modelo de Governo da Informação Genómica e de Saúde
NTT DATA Portugal, Portugal

Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2023/11/16 - 2023/11/18 Encontro Renal 2023, Porto
Congress
 Encontro Renal 2023 - XXXVII Congresso da Sociedade Portuguesa de Nefrologia | XV Congresso Luso-Brasileiro de Nefrologia
Sociedade Portuguesa de Nefrologia, Portugal
2023/11/17 - 2023/11/17 Co-moderador com Idalina Beirão | Mesa-Redonda: «Genética» | Encontro Renal 2023 | Oradores: Roser Torra; Guillaume Dorval; Joana Jardim
Round table
 Encontro Renal 2023 - XXXVII Congresso da Sociedade Portuguesa de Nefrologia | XV Congresso Luso-Brasileiro de Nefrologia
Sociedade Portuguesa de Nefrologia, Portugal
2023/05/26 - 2023/05/27 New Horizons in Fabry Disease -- International Conference on Advances in the Treatment of Fabry Disease; Prague (Czech Republic)
Other
 New Horizons in Fabry Disease -- International Conference on Advances in the Treatment of Fabry Disease
Czech Medical Academy, Czech Republic
2023/05/26 - 2023/05/26 Chair with: Alberto Ortiz, Sima Canaan-Kühl | Session 4 «Current Diagnostic Tools and Concepts» | New Horizons in Fabry Disease, Prague, Czech Republic | Speakers: Bojan Vujkovac; Gheona Altarescu; Robert Hopkin; Roberto Guigliani
Other
 New Horizons in Fabry Disease -- International Conference on Advances in the Treatment of Fabry Disease
Czech Medical Academy, Czech Republic
2022/11/17 - 2022/11/19 Encontro Renal 2022, Vilamoura
Congress
 Encontro Renal 2022 - XXXVI Congresso da Sociedade Portuguesa de Nefrologia
Sociedade Portuguesa de Nefrologia, Portugal
2022/10/10 - 2022/10/10 2º Encontro de Nefrologia Translacional, Setúbal
Meeting
 2º Encontro de Nefrologia Translacional | Translational Nephrology - Building the Bridge from Bench-to-Bedside
Sociedade Portuguesa de Nefrologia, Portugal
2022/10/10 - 2022/10/10 Co-moderador com Sofia Jorge | Sessão «Genética no Diagnóstico de Doença Renal Crónica» | 2º Encontro de Nefrologia Translacional - Building the Bridge from Bench-to-Bedside | Oradores: Stanislav Kmoch; Martina Zivná
Meeting
Sociedade Portuguesa de Nefrologia, Portugal
2022/07/22 - 2022/07/22 2nd Workshop on Sphingolipids in Health and Disease, Aveiro
Workshop
 2nd Workshop on Sphingolipids in Health and Disease
Universidade de Aveiro Departamento de Ciências Médicas, Portugal
2022/05/29 - 2022/05/31 7th Update on Fabry Disease: «Biomarkers, Progression and Treatment Opportunities in 2022», Würzburg, Germany
Meeting
 7th Fabry Disease Update: Biomarkers, Progression and Treatment Opportunities
Kidneys For Life, United Kingdom
2022/05/29 - 2022/05/29 Chair with: Dominique Germain (Hôpital Raymond Poincaré, Garches, France) | Session 1: «New Approaches for Optimizing Treatment of Fabry Disease» | 7th Fabry Disease Update, Würzburg, Germany | Speakers: Casey Hallows; Scott Garman [virtual]; David Warnock; James Shayman
Congress
 7th Fabry Disease Update: Biomarkers, Progression and Treatment Opportunities
Kidneys For Life, United Kingdom
2022/04/04 - 2022/04/05 6th Nordic Fabry Expert Group Meeting, Bergen, Norway
Meeting
 6th Nordic Fabry Expert Group Meeting
2021/06/07 - 2021/06/07 Moderador | Mesa-redonda «À conversa sobre... Viver com uma doença rara em tempos de pandemia», Sessão de Encerramento | Doenças Raras Sintomas Comuns 8ª Temporada (virtual)
Round table
 Doenças Raras Sintomas Comuns 8ª Temporada (2021)
SANOFI-GENZYME, Portugal, Portugal
2021/04/17 - 2021/04/17 Moderator | Live Roundtable Webinar «COVID-19 pandemic's impact on healthcare support to people with rare diseases: the example of Fabry disease», Inaugural Session | Doenças Raras Sintomas Comuns 8ª Temporada (virtual)
Round table
 Rare Diseases Common Symptoms Symposium 8th Edition (2021)
SANOFI-GENZYME, Portugal, Portugal
2020/01/31 - 2020/01/31 Moderator | Conference «Personalized medicine - from bench to bedside», Alex Garanto (Radboud UMC, NL) | XLVIII Conferências de Genética Doutor Jacinto de Magalhães
Conference
 XLVIII Conferências de Genética Doutor Jacinto de Magalhães
Centro Hospitalar Universitário do Porto EPE Centro de Genética Médica Doutor Jacinto Magalhães, Portugal
2019/11/01 - 2019/11/02 International Conference on Advances in the Treatment of Fabry Disease, Prague, Czech Republic
Conference
 New Horizons in Fabry Disease: International Conference on Advances in the Treatment of Fabry Disease
Czech Society of Cardiology, Czech Republic
2019/10/11 - 2019/10/12 Porto Clinical Nephrology Update, Porto
Other
Mayo Nephrology Collaborative Group, United States
2019/05/26 - 2019/05/28 6th Fabry Disease Update: «Biomarkers, Progression and Treatment Opportunities», Prague, Czech Republic
Meeting
 6th Update on Fabry Disease: «Biomarkers, Progression and Treatment Opportunities»
Charles University - First Faculty of Medicine, Prague, Czech Republic
2019/04/22 - 2019/04/24 Cadernos da Patologia Renal, Anno V - Genómica e diversidade fenotípica, São Paulo, Brasil
Other
 Cadernos de Patologia Renal, Anno V - Genómica e diversidade fenotípica
Hospital do Rim, São Paulo, Brazil
2018/09/17 - 2018/09/18 5th Fabry Expert Day in Nephrology, Madrid, Spain
Other
 5th Fabry Expert Day in Nephrology
Sanofi Genzyme Europe BV, Netherlands
2018/03/09 - 2018/03/10 5th European Fabry Expert Lounge: «The Heart of the Matter», Madrid, Spain
Other
 5th European Fabry Expert Lounge: «The Heart of the Matter»
Sanofi Genzyme Europe BV, Netherlands
2018/02/05 - 2018/02/09 14th Annual WORLD Syposium, SanDiego (CA), USA
Symposium
Lysosomal Disease Network, United States
2017/10/04 - 2017/10/07 XIX Congresso Paulista de Nefrologia, Atibaia, Brasil
Congress
 XIX Congresso Paulista de Nefrologia
SONESP - Sociedade de Nefrologia do Estado de São Paulo, Brazil
2017/09/21 - 2017/09/22 4th Fabry Expert Day in Nephrology, Frankfurt am Main, Germany
Other
Sanofi Genzyme Europe BV, Netherlands
2017/06/29 - 2017/07/01 4th European Fabry Summer School, Versailles, France
Other
 4th European Fabry Summer School
Université de Versailles Saint-Quentin-en-Yvelines, France

Sanofi Genzyme Europe BV, Netherlands
2017/06/09 - 2017/06/10 Reunión Nacional de Enfermedades Minoritarias, Madrid, Spain
Other
Instituto Nacional de Enfermedades Minoritarias, Spain

Shire Pharmaceuticals Ibérica SL, Spain
2017/04/25 - 2017/04/27 5th Update on Fabry Nephropathy: Biomarkers, Progression and Treatment Opportunities, Mexico City, Mexico
Symposium
 5th Update on Fabry Nephropathy: Biomarkers, Progression and Treatment Opportunities | Official Satellite Symposium of the World Congress of Nephrology 2017
International Society of Nephrology, Belgium
2017/04/06 - 2017/04/08 Encontro Renal 2017, Vilamoura
Congress
 Encontro Renal 2017 | XXXI Congresso Português de Nefrologia
Sociedade Portuguesa de Nefrologia, Portugal
2017/03/10 - 2017/03/11 European Round Table on Fabry Disease 2017, Berlin, Germany
Round table
Sanofi Genzyme Europe BV, Netherlands
2017/02/18 - 2017/02/18 IV Simpósio Doenças Raras, Sintomas Comuns 2017: «Olhares Diferentes, Interesses Similares», Figueira da Foz
Symposium
Sanofi Genzyme Portugal, Portugal
2016/03/11 - 2016/03/12 4th European Fabry Disease Expert Lounge: «Unravelling Fabry disease, improving care», Amsterdam, The Netherlands
Other
 4th European Fabry Disease Expert Lounge 2016: «Unravelling Fabry disease, improving care»
Sanofi Genzyme Europe BV, Netherlands
2016/03/11 - 2016/03/11 Chair | Session 3: Diagnosis | European Fabry Disease Expert Lounge 2016: «Unravelling Fabry disease, improving care», Amsterdam, The Netherlands
Other
 4th European Fabry Disease Expert Lounge 2016: «Unravelling Fabry disease, improving care»
Sanofi Genzyme Europe BV, Netherlands
2015/11/07 - 2015/11/07 Chair (with: Carolino Monteiro) | News in diagnosis and treatment of Lysosomal Storage Disorders: Paula Garcia (Coimbra) | 19ª Reunião Anual da Sociedade Portuguesa de Genética Humana, Porto
Congress
 19ª Reunião Anual da Sociedade Portuguesa de Genética Humana
Sociedade Portuguesa de Genética Humana, Portugal

Jury of academic degree

Topic
Role 		Candidate name (Type of degree)
Institution / Organization
2024/07/12 Melhorar os Serviços de Genética em Portugal
Thesis Member
 Catarina Raquel Ribeiro Costa (PhD)
Universidade do Porto Faculdade de Medicina, Portugal
2020/01/31 Miocardiopatia dilatada genética - contributo das novas técnicas de diagnóstico molecular e de imagem
Thesis Member
 Alexandra Isabel Coelho Sousa (PhD)
Universidade do Porto Faculdade de Medicina, Portugal
2016/06/03 Caracterização de mutações do gene GLA encontradas em jovens doentes Portugueses com AVC
Supervisor
 Susana Moreira Ferreira (PhD)
Universidade do Porto Faculdade de Medicina, Portugal
2015/12/08 Desarrollo de una Estrategia para Diagnosticar y Pronosticar todas las Enfermedades Renales Hereditarias
(Thesis) Arguer
 Lisbeth Elena Sousa e Silva (PhD)
Universidade de Santiago de Compostela Facultade de Medicina e Odontoloxía, Spain
2015/01/09 Tipagem Genética dos Loci Polimórficos Associados à Asma e à Atopia na População da Madeira com Vista à Identificação de Potenciais Marcadores de Susceptibilidade, Severidade e Aplicação Clínica
(Thesis) Arguer
 Anabela Gonçalves Berenguer (PhD)
Universidade da Madeira Faculdade de Ciências da Vida, Portugal
2014/05/08 Alport Syndrome: Clinical and molecular study of Portuguese families
Supervisor
 Maria João Nabais Sá (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2013/12/20 Molecular pathophysiology underlying the neonatal form of Farber disease
(Thesis) Arguer
 Mariana Isabel Quaresma Rocha Alves (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2012/05/04 Fabry disease: pathogenesis and histopathology
Supervisor
 Carmen Ruiz de Valbuena Bueno (PhD)
Universidade do Porto Faculdade de Medicina, Portugal
2009/10/01 Estabelecimento de um modelo celular para o estudo da regulação da expressõ da WNK1 pela aldosterona e angiotensina II
Thesis Member
 Ana Luísa Fernandes Neves Soares (Master)
Universidade do Porto Faculdade de Medicina, Portugal

Association member

Society Organization name Role
2024/04/02 - Current Ordem dos Médicos | Colégio da Especialidade de Genética Médica | Vogal da Direcção Vogal
2004 - Current Sociedade Portuguesa de Nefrologia Membro
1999 - Current Ordem dos Médicos | Colégio da Especialidade de Genética Médica Membro
1994 - Current Ordem dos Médicos | Colégio da Especialidade de Nefrologia Membro
1993 - Current European Society of Human Genetics (ESHG) Regular member
1992 - Current European Renal Association - European Dialysis and Transplant Association (ERA-EDTA) Regular member
1989 - Current International Society of Nephrology (ISN) Full member
1981/01/01 - Current Ordem dos Médicos Membro
1999 - 2019 Ordem dos Médicos | Conselho Regional do Distrito Médico do Porto Membro Consultivo
2009 - 2012 Ordem dos Médicos | Colégio da Especialidade de Nefrologia | Vogal da Direcção Vogal
2006 - 2009 Sociedade Portuguesa de Nefrologia | Vogal da Direcção Vogal da Direcção
1992 - 1999 Ordem dos Médicos | Colégio da Competência de Genética Médica Membro
1989 - 1999 Sociedade Portuguesa de Genética Membro
1988 - 1990 Associação Nacional de Jovens Médicos Membro fundador e da comissão instaladora
1987 - 1989 Ordem do Médicos | Conselho Nacional do Médico Interno | Vogal Membro

Committee member

Activity description
Role 		Institution / Organization
2024/10/21 - Current Membro de Comité de Tese de Doutoramento | Programa de Doutoramento em Ciências da Saúde, Faculdade de Medicina da Universidade de Coimbra | Estudante: Filipe Santos Mira | Título (Title): Análise de Fatores Genéticos na Progressão de Doença Renal Crónica na População Portuguesa (Analysis of Genetic Factors in the Progression of Chronic Kidney Disease in the Portuguese Population)
Member
 Universidade de Coimbra Faculdade de Medicina, Portugal
2001 - Current European Advisoy Board, Fabry Registry
Member
 Sanofi Genzyme, United States
2012/03/27 - 2024/02/29 Comissão de Ética para a Saúde, NephoCare-Portugal
Member
 Nephrocare Portugal SA, Portugal
2021/04/21 - 2022/02/28 Membro do Comité Executivo, Projecto «Ser Raro, Num Tempo Raro»
Member
 Takeda Farmacêuticos Portugal, Portugal
2015/10/15 - 2015/10/17 Controversies Conference on Diagnosis and Management of Patients with Fabry Nephropathy; Dublin, Ireland
Member
 Kidney Disease: Improving Global Outcomes (KDIGO), Belgium
2003 - 2006 Comissão Científica da Sociedade Portuguesa de Nefrologia
Member
 Sociedade Portuguesa de Nefrologia, Portugal
1981 - 1984 Núcleo Coordenador do Curso de 1981
Member
 Universidade do Porto Faculdade de Medicina, Portugal
1975 - 1981 Comissão de Curso
Member
 Universidade do Porto Faculdade de Medicina, Portugal

Conference scientific committee

Conference name Conference host
2024/12/05 - 2024/12/07 28ª Reunião Anual da Sociedade Portuguesa de Genética Humana Sociedade Portuguesa de Genética Humana (SPGH)

Consulting

Activity description Institution / Organization
2024 - Current Perito do Grupo de Trabalho Intersectorial para as Doenças Raras 2025-2030 | Representação: Ordem dos Médicos | Coordenadora: Prof.ª Maria do Céu Machado Ministério da Saúde, Portugal
2023/11/10 - 2023/11/10 AMICUS Fabry Disease Advisory Board - Portugal; Porto Amicus Therapeutics SLU, Spain
2022/12/16 - 2022/12/16 Migalastat data in context with enzyme replacement therapy data - Portuguese Advisory Board; Porto Amicus Therapeutics SLU, Spain
2021/10/12 - 2021/10/12 Reunión de Expertos Nefrología 2021 (virtual) Amicus Therapeutics SLU, Spain
2020/02/07 - 2020/02/07 Fabry Disease Advisory Board - Insights from experts concerning the future of diagnosis, monitoring and treatment of Fabry disease Sanofi Genzyme, United States
2019/11/30 - 2019/11/30 Amicus Therapeutics Advisory Board Meeting; Matosinhos Amicus Therapeutics SLU, Spain
2016/02/13 - 2016/02/13 Nephrology Working Group | Fabry Therapeutic Goals Initiative, Brussels, Belgium Sanofi Genzyme Europe BV, Netherlands

Excerpta Medica, Netherlands

Course / Discipline taught

Academic session Degree Subject (Type) Institution / Organization
2023/09/15 - 2023/09/15 Amicus Training Session in Fabry Disease: (1) A multidomain framework for the diagnosis of Fabry disease; (2) Assessment of the pathogenicity and annotation of GLA gene variants; (3) Kidney anatomy, physiology and pathophysiology; (4) Clinical value and assessement of glomerular filtration rate Acção de Formação para o Departamento Médico (Outros) Amicus Therapeutics SLU, Spain
2021/12/06 - 2021/12/06 Doença de Fabry - revisão geral Acção de Formação para Delegados de Informação Médica (Outros) Takeda Farmacêuticos Portugal, Portugal
2019/07/10 - 2019/07/10 Workshop 2: Causas inflamatórias e genéticas de acidente vascular cerebral Curso de Atualização em Doença Vascular Cerebral 2019 (Outros) Associação para o Estudo de Doenças Neurovasculares- AEDN, Portugal

Interview (tv / radio show)

Program Topic
2018/02/20 - 2018/02/20 Consultório Doença de Fabry

Journal scientific committee

Journal title (ISSN) Publisher
2012 - 2021 Portuguese Journal of Nephrology and Hypertension (0872-0169) Publicações Ciência e Vida
2003 - 2014 Arquivos de Medicina (2183-2447) ArquiMed – Edições Científicas da Associação de Estudantes da Faculdade de Medicina da Universidade do Porto
1987 - 1990 Arquivos de Medicina (0871-3413) ARQUIMED - Edições Científicas da Associação de Estudantes da Faculdade de Medicina da Universidade do Porto
1985 - 1989 Perspectivas em Prática Médica

Other jury / evaluation

Activity description Institution / Organization
2024/12/16 - 2024/12/16 Membro do Júri de Selecção: FMUP | FCT Tenure 1.ª Edição | 1 Investigador/a Auxiliar (carreira) | Medical and Health Sciences, Clinical Medicine, Urology and Nephrology - Ref. 2024/72 (Pr. 238). Universidade do Porto Faculdade de Medicina, Portugal
2024/11/12 - 2024/11/12 Membro do Júri de Prova de Ano Probatório | 3º Ciclo em Ciências Biomédicas, Instituto de Ciências Biomédicas Abel Salazar | Júri: Maria Salomé Gomes (Presidente), Manuela Ferreira (Arguente), Isabel Alexandra Correia (Arguente), Alexandre Carmo (Arguente), Maria Fátima Macedo (Orientadora), João Paulo Oliveira (Coorientador) | Estudante: Inês Martins Mondragão Rodrigues Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2024/11/11 - 2024/11/11 Membro do Júri de Prova de Ano Probatório | 3º Ciclo em Ciências Biomédicas, Instituto de Ciências Biomédicas Abel Salazar | Júri: Paula Ferreira Silva (Presidente), Maria José Oliveira (Arguente), Inês Soares Alencastre (Orientadora), João Paulo Oliveira (Coorientador) | Estudante: Isabel Maria Carvalho Brandão Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2024/10/21 - 2024/10/21 Membro do Júri da Defesa do Projeto de Investigação | Programa de Doutoramento em Ciências da Saúde, Faculdade de Medicina da Universidade de Coimbra | Júri: Henrique Girão (Presidente), João Paulo Oliveira (Arguente) | Estudante: Filipe Santos Mira Universidade de Coimbra Faculdade de Medicina, Portugal
2023/03/30 - 2023/03/31 Presidente do Júri das Provas de Avaliação Final do Internato de Formação Específica em Genética Médica Conselho Nacional do Internato Médico (CNMI) | Administração Central do Sistema de Saúde (ACSS), Portugal
2022/07/20 - 2022/07/20 Reconhecimento Específico ao Ciclo de Estudos Integrado do Mestrado em Medicina, por avaliação de Relatório Curricular; Candidato: Guilherme de Macedo Oliveira; Júri: Alberto Manuel Barros da Silva (Presidente), Sofia Dória Príncipe dos Santos Cerveira (Vogal), João Paulo Ferreira da Silva Oliveira (Vogal) Universidade do Porto Faculdade de Medicina, Portugal
2021/04/22 - 2021/04/28 Presidente do Júri das Provas de Avaliação Final do Internato de Formação Específica em Genética Médica Conselho Nacional do Internato Médico (CNMI) | Administração Central do Sistema de Saúde (ACSS), Portugal
2020/07/02 - 2020/07/07 Presidente do Júri das Provas de Avaliação Final do Internato de Formação Específica em Genética Médica Conselho Nacional do Internato Médico (CNMI) | Administração Central do Sistema de Saúde (ACSS), Portugal
2019/03/27 - 2019/03/28 Presidente do Júri das Provas de Avaliação Final do Internato de Formação Específica em Genética Médica Conselho Nacional do Internato Médico (CNMI) | Administração Central do Sistema de Saúde (ACSS), Portugal
2018/10/30 - 2018/10/31 Presidente do Júri das Provas de Avaliação Final do Internato de Formação Específica em Genética Médica Conselho Nacional do Internato Médico (CNMI) | Administração Central do Sistema de Saúde (ACSS), Portugal
Distinctions

Award

1981 "Prémio Dr. Alberto Brochado»
Universidade do Porto Faculdade de Medicina, Portugal
1981 «Prémio Sisa Vieira»
Universidade do Porto Faculdade de Medicina, Portugal
1980 «Prémio Eduarda nº2»
Universidade do Porto Faculdade de Medicina, Portugal

Other distinction

2024 Melhor Comunicação Oral em Nefrologia Clínica - Encontro Renal 2024
Sociedade Portuguesa de Nefrologia, Portugal
2023 Melhor Comunicação Oral em Nefrologia Clínica - Encontro Renal 2023
Sociedade Portuguesa de Nefrologia, Portugal