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Patrícia Janeiro. Concluiu o(a) Licenciatura em Curso de Medicina em 2001/07/30 pelo(a) Faculdade de Medicina da Universidade de Lisboa. Publicou 26 artigos em revistas especializadas. Atua na(s) área(s) de Ciências Médicas e da Saúde com ênfase em Pediatria com foco nas doenças hereditárias do metabolismo. No seu currículo Ciência Vitae os termos mais frequentes na contextualização da produção científica, tecnológica e artístico-cultural são: Mitochondrial Disorders; Next Generation Sequencing; Molecular Diagnosis; Doenças Genéticas; Doença de Gaucher/diagnóstico; Doença de Gaucher/genética; Doenças do Recém-Nascido; Esplenomegalia; glucocerebrosidase/genética; Hepatomegalia; Recém-Nascido; Coarse facies; developmental regression; Gangliosidosis; hypotonia; lysosomal storage disease; Composição de Alimentos; Nutrição; Trimetilaminúria; Síndroma de odor a peixe; Saúde Pública; Portugal; Doenças Mitocondriais; NGS; Sequenciação de Nova Geração; Doença de Menkes; ATP7A; Encefalopatia epiléptica; Mosaicismo gonadal; Cobre-histidina; Pediatria; Domínio/Área Científica::Ciências Médicas; Mitochondrial Diseases; Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Amino Acid Metabolism, Inborn Errors; Cardiomyopathies; Carnitine; Carnitine O-Palmitoyltransferase; Child; Child, Preschool; Congenital Bone Marrow Failure Syndromes; Early Diagnosis; Female; Follow-Up Studies; Humans; Hyperammonemia; Hypoglycemia; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Metabolism, Inborn Errors; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Muscular Diseases; Neonatal Screening; Prognosis; Retrospective Studies; Severity of Illness Index; mtDNA; Painel de Genes; Doenças Metabólicas/dietoterapia; Tirosinemias; Nitisinona/uso terapêutico; Rastreio Neonatal; Mitochondrial diseases; Deficiência do transportador da creatina; SLC6A8; Atraso cognitivo; Espetroscopia protónica por RMN CE; Ratio creatina/creatinina; Arginina; Gene Panel; Nuclear Genes; Diagnosis; Respiratory Chain; Doença lissosomal de sobrecarga; face grosseira; Gangliosidose; hipotonia; regressão do desenvolvimento; Sequenciação de nova geração; Exoma; Painel de NGS para Mitocondriais; .
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Identification

Personal identification

Full name
Patrícia Cristina Ramalho Batista Janeiro da Nóbrega

Citation names

  • Janeiro, Patrícia

Author identifiers

Ciência ID
941E-1936-53F1
ORCID iD
0000-0002-8985-1156

Telephones

Mobile phone
  • 910956516 (Personal)
  • 217805000 Ext.: 90232 (Professional)
  • 962843999 (Professional)

Addresses

  • Avenida Professor Egas Moniz, 1649-035, Lisboa, Lisboa, Portugal (Professional)

Knowledge fields

  • Medical and Health Sciences - Clinical Medicine - Paediatrics

Languages

Language Speaking Reading Writing Listening Peer-review
Portuguese (Mother tongue)
English Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1)
Education
Degree Classification
2010/09/01 - 2021/03/17
Concluded
 Ciclo de Estudos em Doenças Hereditárias do Metabolismo (Especialização pós-licenciatura)
Major in Doenças Hereditárias do Metabolismo
Centro Hospitalar Universitário Lisboa Norte EPE, Portugal
2005/01/01 - 2010/08/31
Concluded
 Pediatria (Especialização pós-licenciatura)
Major in Pediatria
Hospital Professor Doutor Fernando Fonseca EPE, Portugal
 18,5
1995/10/01 - 2001/07/30
Concluded
 Curso de Medicina (Licenciatura)
Major in Medicina
Faculdade de Medicina da Universidade de Lisboa, Portugal
 14
Affiliation

Other Careers

Category
Host institution 		Employer
2021/01/01 - Current Assistente graduado (Médica) Centro Hospitalar Universitário Lisboa Norte EPE, Portugal
2010/09/01 - 2020/12/31 Assistente (Médica) Centro Hospitalar Universitário Lisboa Norte EPE, Portugal
2005/01/01 - 2010/08/31 Interno (Médica) Hospital Professor Doutor Fernando Fonseca EPE, Portugal
Projects

Grant

Designation Funders
2014 - Current Genetic defects of mitochondrial diseases: a new generation sequencing approach PTDC/DTP-PIC/2220/2014
PTDC/DTP-PIC/2220/2014
Researcher
Instituto Nacional de Saúde Doutor Ricardo Jorge Porto, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2014 - Current Gene defects of mitochondrial diseases: new generation sequencing approach. PTDC/DTP – PIC/2220/2014
PTDC/DTP – PIC/2220/2014
Researcher
Instituto Nacional de Saúde Doutor Ricardo Jorge Porto, Portugal
 Fundação para a Ciência e a Tecnologia
2013 - 2015 European Network and Registry for Homocystinurias and Methylation Defects (EHOD), Healthy Programme of the EU (20121202)
Healthy Programme of the EU (20121202)
Researcher
Concluded

Contract

Designation Funders
2022/09/05 - Current A Phase 3 Open-Label Extension Study of PTC923 in Phenylketonuria
2021-000474-29
Principal investigator
PTC Therapeutics Inc, United States
Ongoing
2019 - Current Compassionate use of Recombinant Human ß-glucuronidase (rhGUS) (UX003) for MPS VII (Sly Syndrome)
NCT02432144
Researcher
Ultragenyx Pharmaceutical Inc, United States
2017 - Current Nutritional status of patients with mucopolysaccharidosis (Evaluation, intervention and follow-up).
SUN-PO186
Researcher
Concluded
2023/03/01 - 2024/08/31 Desenvolvimento de uma Terapia de Redução do Substrato Genético para a MPS III através da utilização de Oligonucleótidos antisense como agentes terapêuticos
2022.04667.PTDC
10.54499/2022.04667.PTDC
Universidade do Porto Instituto de Ciências Tecnologias e Agroambiente, Portugal

Universidade do Porto Centro Interdisciplinar de Investigação Marinha e Ambiental, Portugal

Centro Hospitalar Universitário de Santo António, Portugal

Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Centro Hospitalar Universitário Lisboa Norte EPE, Portugal

Centro Hospitalar Universitário de São João, Portugal

Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
Fundação para a Ciência e a Tecnologia
Ongoing
2022/01/01 - 2023/12/31 Desenvolvimento de modelos in vitro e in vivo para a doença de Sanfilippo
EXPL/BTM-SAL/0659/2021
10.54499/EXPL/BTM-SAL/0659/2021
Universidade do Porto Centro de Estudos de Ciencia Animal, Portugal

Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Universidade do Porto Centro Interdisciplinar de Investigação Marinha e Ambiental, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2021/09 - 2023/05 PTC923-MD-003-PKU
2021-000474-29
Principal investigator
PTC Therapeutics Inc, United States
Ongoing
2019/01/01 - 2019/12/31 Instituto de Investigação do Medicamento
UID/DTP/04138/2019
Universidade de Lisboa Faculdade de Farmácia, Portugal

Universidade de Lisboa Instituto de Investigação do Medicamento, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2016/06/01 - 2018/11/30 Defeitos Genéticos das doenças mitocondriais: abordagem por sequenciação de nova geração
PTDC/DTP-PIC/2220/2014
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Centro Hospitalar Universitário de Santo António, Portugal

Centro Hospitalar de Vila Nova de Gaia Espinho EPE, Portugal

Centro Hospitalar Universitário Lisboa Norte EPE, Portugal

Centro Hospitalar Universitário de São João, Portugal

Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Centro Hospitalar Universitário do Porto EPE, Portugal

Centro Hospitalar Universitário de São João, Portugal
Fundação para a Ciência e a Tecnologia
Concluded

Other

Designation Funders
2024/06/18 - Current Exploring mitochondrial medium-chain fatty acid acyl-CoA dehydrogenase deficiency as a model for the study of cardiac dysfunction and energy impairment.
CC-66/24
Principal investigator
Faculdade de Medicina da Universidade de Lisboa, Portugal
Ongoing
2023 - Current A phase 3 study of PTC 923 in subjects with phenylketonuria PTC923-MD-003-PKU
PTC923-MD-003-PKU
Researcher
PTC Therapeutics Ltd, United Kingdom
Concluded
2023 - Current A phase 4 study of PTC 923 in subjects with phenylketonuria PTC923-MD-004-PKU
PTC923-MD-004-PKU
Researcher
PTC Therapeutics Inc, United States
Ongoing
2019 - Current Non interventive, retrospective study of the natural history and rotine clinical management of inborn errors of glycosylation. Clin800-401.
Clin800-401
Researcher
Cerecor Inc, United States
Concluded
Outputs

Publications

Conference paper
  1. Nogueira, Celia; Laura, Vilarinho; Cristina, Pereira; Lisbeth, Silva; Elisa, Leão Teles; Esmeralda, Rodrigues; Teresa, Campos; et al. "Molecular Diagnosis of Mitochondrial Disease with Targeted Next Generation Sequencing: a COhoRT of 250 patients". 2019.
  2. Nogueira, Celia; Pereira, Cristina; Silva, Lisbeth; Vieira, Luis; Leão Teles, Elisa; Campos, Teresa; Rodrigues, Esmeralda; et al. "Next generation sequencing: a golden tool in mitochondrial diseases". 2018.
  3. Nogueira, Célia; Vilarinho, Laura; Pereira, Cristina; Silva, Lisbeth; Vieira, Luís; Leão Teles, Elisa; Rodrigues, Esmeralda; et al. "Mitochondrial disorders: insights into diagnosis and management in the new era of genomic medicine". 2017.
  4. Nogueira, Célia; Pereira, Cristina; Silva, Lisbeth; Rodrigues, Esmeralda; Janeiro, Patricia; Sequeira, Sílvia; Santos, Helena; et al. "Diagnóstico das Doenças Mitocondriais por Sequenciação de Nova Geração". 2017.
  5. Nogueira, Célia; Vilarinho, Laura; Pereira, Cristina; Silva, Lisbeth; Vieira, Luis; Leão Teles, Elisa; Rodrigues, Esmeralda; et al. "Next Generation Sequencing Improves Mitochondrial Diseases Diagnosis". 2017.
Conference poster
  1. Coutinho, Maria Francisca; Santos, Juliana Inês; Matos, Liliana; Leão Teles, Elisa; Martins, Esmeralda; Matos, Paula Garcia ; Janeiro, Patrícia; et al. "THE 2020S TOOTH FAIRY: FROM LOOSE TOOTH TO NEURONAL CELL CULTURES, a method to establish neurologic Lysosomal Storage Diseases in vitro ¿ an update". Paper presented in 17th International Symposium of the Portuguese Society for Metabolic Disorders, 2021.
  2. Coutinho, Maria Francisca; Santos, Juliana Inês; Carvalho, Sofia; Ribeiro, Diogo; Gaspar, Paulo; Matos, Liliana; Duarte, Ana Joana; et al. "The 2020s tooth fairy: from loose tooth to neuronal cell cultures, an innovative method to model neurologic Lysosomal Storage Diseases in vitro". Paper presented in 25th Annual Meeting SPGH, 2021.
  3. Pavlu-Pereira, Hana; Silva, Maria João; Florindo, Cristina; Rodrigues, Ana Luísa; Janeiro, Patrícia; Oliveira, Anabela; Gomes, Daniel; et al. "Pyruvate Dehydrogenase Complex Deficiency in Portugal: Clinical, Biochemical and Molecular Characterization, Prospect of Genotype-Phenotype Correlation". Paper presented in 16th International Symposium of the Portuguese Society for Metabolic Disorders, 2020.
  4. Pavlu-Pereira, Hana; Janeiro, Patrícia; Costa, Cláudia; Gaspar, Ana; Oliveira, Anabela; Tavares de Almeida, Isabel; Silva, Maria João; Rivera, Isabel. "Pyruvate Dehydrogenase Complex Deficiency: Mutational Spectrum of Portuguese Patients". Paper presented in 12th International Congress of Inborn Errors of Metabolism, Barcelona, Spain, 2013.
  5. Pavlu-Pereira, Hana; Janeiro, Patrícia; Costa, Cláudia; Gaspar, Ana; Oliveira, Anabela; Tavares de Almeida, Isabel; Silva, Maria João; Rivera, Isabel. "Predictable BH4-responsiveness: Most South Portugal PKU Patients Are Candidates to BH4 Supplementation". Paper presented in 12th International Congress of Inborn Errors of Metabolism, Barcelona, Spain, 2013.
Journal article
  1. Leonor Ladeira Rodrigues; Patrícia Janeiro; Tiago Proença dos Santos; Joana Coelho. "Mutações no Gene IBA57 como Causa de Leucodistrofia na Idade Pediátrica: Um Caso Clínico". Sinapse (2024): https://doi.org/10.46531/sinapse/CC/230035/2024.
    10.46531/sinapse/CC/230035/2024
  2. Manuela Schubert Baldo; Célia Nogueira; Cristina Pereira; Patrícia Janeiro; Sara Ferreira; Charles M. Lourenço; Anabela Bandeira; et al. "Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era". Genes (2023): https://doi.org/10.3390/genes14081536.
    10.3390/genes14081536
  3. Lipari Pinto, Patrícia; Florindo, Cristina; Janeiro, Patrícia; Santos, Rita Loureiro; Mexia, Sandra; Rocha, Hugo; Tavares de Almeida, Isabel; Vilarinho, Laura; Gaspar, Ana. "Acquired Vitamin B12 Deficiency in Newborns: Positive Impact on Newborn Health through Early Detection". Nutrients 14 20 (2022): 4397. http://dx.doi.org/10.3390/nu14204397.
    10.3390/nu14204397
  4. Martínez-Rubio, Dolores; Hinarejos, Isabel; Sancho, Paula; Gorría-Redondo, Nerea; Bernadó-Fonz, Raquel; Tello, Cristina; Marco-Marín, Clara; et al. "Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias". International Journal of Molecular Sciences 23 19 (2022): 11847. http://dx.doi.org/10.3390/ijms231911847.
    10.3390/ijms231911847
  5. Filipa Durão; Patrícia Valério; Bárbara Marques; Raquel Gouveia Silva; Patrícia Janeiro; José E. Esteves da Silva. "Recurrent acute kidney injury and rhabdomyolysis: Questions". Pediatric Nephrology 36 12 (2021): 4045-4046. https://doi.org/10.1007/s00467-021-05170-0.
    10.1007/s00467-021-05170-0
  6. Filipa Durão; Patrícia Valério; Bárbara Marques; Raquel Gouveia Silva; Patrícia Janeiro; José E. Esteves da Silva. "Recurrent acute kidney injury and rhabdomyolysis: Answers". Pediatric Nephrology 36 12 (2021): 4047-4049. https://doi.org/10.1007/s00467-021-05188-4.
    10.1007/s00467-021-05188-4
  7. Gónzalez-Meneses, Antonio; Pineda, Mercè; Bandeira, Anabela; Janeiro, Patrícia; Ruiz, María Ángeles; Diogo, Luisa; Cancho-Candela, Ramón. "Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort". Orphanet Journal of Rare Diseases 16 1 (2021): http://dx.doi.org/10.1186/s13023-021-02063-1.
    10.1186/s13023-021-02063-1
  8. Lipari Pinto, Patrícia; Shchomak, Zakhar; Boto, Leonor; Janeiro, Patrícia; Moldovan, Oana; Abecasis, Francisco; Gaspar, Ana; Vieira, Marisa. "Response to the Letter to the Editor: Inborn Errors in Pediatric Intensive Care Unit: Much More to Understand". Journal of Pediatric Intensive Care 12 03 (2021): 243-243. http://dx.doi.org/10.1055/s-0041-1731023.
    10.1055/s-0041-1731023
  9. Nogueira, Célia; Silva, Lisbeth; Marcão, Ana; Sousa, Carmen; Fonseca, Helena; Rocha, Hugo; Campos, Teresa; et al. "Role of RNA in Molecular Diagnosis of MADD Patients". Biomedicines 9 5 (2021): 507. http://dx.doi.org/10.3390/biomedicines9050507.
    10.3390/biomedicines9050507
  10. Quelhas, Dulce; Martins, Esmeralda; Azevedo, Luísa; Bandeira, Anabela; Diogo, Luísa; Garcia, Paula; Sequeira, Sílvia; et al. "Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience". The Journal of Pediatrics 231 (2021): 148-156. http://dx.doi.org/10.1016/j.jpeds.2020.12.026.
    10.1016/j.jpeds.2020.12.026
  11. Ferreira, Filipa; Azevedo, Luísa; Neiva, Raquel; Sousa, Carmen; Fonseca, Helena; Marcão, Ana; Rocha, Hugo; et al. "Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses". Molecular Genetics & Genomic Medicine 9 3 (2021): http://dx.doi.org/10.1002/mgg3.1559.
    10.1002/mgg3.1559
  12. Ferreira, Filipa; Azevedo, Luísa; Neiva, Raquel; Sousa, Carmen; Fonseca, Helena; Marcão, Ana; Rocha, Hugo; et al. "Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses". Molecular Genetics & Genomic Medicine 9 3 (2021): http://dx.doi.org/10.1002/mgg3.1559.
    10.1002/mgg3.1559
  13. Almeida, Teresa; Almeida, Isabel Tavares; Forno, Andreia; Rodrigues, Luis; Jotta, Rita; Rodrigues, Ana Luisa; Janeiro, Patrícia; et al. "New Pathogenic Mutations on GLDC gene leading to Classic Nonketotic Hyperglycinemia". Pediatric Oncall 18 4 (2021): http://dx.doi.org/10.7199/ped.oncall.2021.50.
    10.7199/ped.oncall.2021.50
  14. Lipari, Patrícia; Shchomak, Zakhar; Boto, Leonor; Janeiro, Patrícia; Moldovan, Oana; Abecasis, Francisco; Gaspar, Ana; Vieira, Marisa. "Inborn Errors of Metabolism in a Tertiary Pediatric Intensive Care Unit". Journal of Pediatric Intensive Care 11 03 (2020): 183-192. http://dx.doi.org/10.1055/s-0040-1721738.
    10.1055/s-0040-1721738
  15. Pavlu-Pereira, Hana; Silva, Maria João; Florindo, Cristina; Sequeira, Sílvia; Ferreira, Ana Cristina; Duarte, Sofia; Rodrigues, Ana Luísa; et al. "Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients". Orphanet Journal of Rare Diseases 15 1 (2020): http://dx.doi.org/10.1186/s13023-020-01586-3.
    10.1186/s13023-020-01586-3
  16. Lipari Pinto, Patrícia; Machado, Catarina; Janeiro, Patrícia; Dupont, Juliette; Quintas, Sofia; Sousa, Ana Berta; Gaspar, Ana. "NGLY1 deficiency—A rare congenital disorder of deglycosylation". JIMD Reports 53 1 (2020): 2-9. http://dx.doi.org/10.1002/jmd2.12108.
    10.1002/jmd2.12108
  17. Miranda, Ana Margalha; Ezequiel, Marta; Luís, Catarina; Dupont, Juliette; Gaspar, Paulo; Vilarinho, Laura; Janeiro, Patrícia; et al. "Coarse face, hypotonia, and neurodevelopmental regression". (2020): https://revistas.rcaap.pt/nascercrescer/article/view/15184.
    10.25753/BirthGrowthMJ.v29.i2.15184
  18. Ferreira, Filipa; Sousa, Luísa Azevedo Carmen; Neiva, Raquel; Fonseca, Helena; Marcão, Ana; Rocha, Hugo; Carmona, Célia; et al. "Fenilcetonúria em Portugal: 40 anos de rastreio neonatal (1979-2019)". (2020): http://hdl.handle.net/10400.18/7279.
  19. Nogueira, Célia; Silva, Lisbeth; Pereira, Cristina; Vieira, Luís; Leão Teles, Elisa; Rodrigues, Esmeralda; Campos, Teresa; et al. "Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction". Mitochondrion 47 (2019): 309-317. http://dx.doi.org/10.1016/j.mito.2019.02.006.
    10.1016/j.mito.2019.02.006
  20. Sousa, Cátia; Almeida, Manuela Ferreira; Sousa Barbosa, Catarina; Martins, Esmeralda; Janeiro, Patrícia; Tavares de Almeida, Isabel; MacDonald, Anita; Rocha, Júlio César. "The European Phenylketonuria Guidelines and the challenges on management practices in Portugal". Journal of Pediatric Endocrinology and Metabolism 32 6 (2019): 623-629. http://dx.doi.org/10.1515/jpem-2018-0527.
    10.1515/jpem-2018-0527
  21. Rubio-Gozalbo, M. E.; Haskovic, M.; Bosch, A. M.; Burnyte, B.; Coelho, A. I.; Cassiman, D.; Couce, M. L.; et al. "The natural history of classic galactosemia: lessons from the GalNet registry". Orphanet Journal of Rare Diseases 14 1 (2019): http://dx.doi.org/10.1186/s13023-019-1047-z.
    10.1186/s13023-019-1047-z
  22. Janeiro, Patrícia; Jotta, Rita; Ramos, Ruben; Florindo, Cristina; Ventura, Fátima V.; Vilarinho, Laura; Tavares de Almeida, Isabel; Gaspar, Ana. "Follow-up of fatty acid ß-oxidation disorders in expanded newborn screening era". European Journal of Pediatrics 178 3 (2019): 387-394. http://dx.doi.org/10.1007/s00431-018-03315-2.
    10.1007/s00431-018-03315-2
  23. Janeiro, Patrícia; Jotta, Rita; Ramos, Ruben; Florindo, Cristina; Ventura, Fátima V.; Vilarinho, Laura; Tavares de Almeida, Isabel; et al. "Follow-up of fatty acid ß-oxidation disorders in expanded newborn screening era". European Journal of Pediatrics 178 3 (2019): 387-394. http://hdl.handle.net/10400.18/6652.
    10.1007/s00431-018-03315-2
  24. Nogueira, Célia; Silva, Lisbeth; Pereira, Cristina; Vieira, Luís; Leão Teles, Elisa; Rodrigues, Esmeralda; Campos, Teresa; et al. "Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction". (2019): http://hdl.handle.net/10400.18/6560.
    10.1016/j.mito.2019.02.006
  25. Célia, Nogueira; Pereira, Cristina; Silva, Lisbeth; Encarnação, Marisa; Teles, Elisa Leão; Rodrigues, Esmeralda; Campos, Teresa; et al. "Avanços no diagnóstico das doenças mitocondriais através da sequenciação de nova geração". (2018): http://hdl.handle.net/10400.18/5546.
  26. Marques-da-Silva, D.; dos Reis Ferreira, V.; Monticelli, M.; Janeiro, Patrícia; Videira, P. A.; Witters, P.; Jaeken, J.; Cassiman, D.. "Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature". Journal of Inherited Metabolic Disease 40 2 (2017): 195-207. http://dx.doi.org/10.1007/s10545-016-0012-4.
    10.1007/s10545-016-0012-4
  27. Romão, Patrícia; Durão, Filipa; Janeiro, Patrícia; Saldanha, Joana. "Hepatoesplenomegalia Neonatal: Para Além das Causas Comuns". (2017): https://pjp.spp.pt//article/view/8065.
    10.25754/pjp.2017.8065
  28. Oliveira, Joana Faleiro; Rodrigues, Magda; Costa, Cláudia; Janeiro, Patrícia; Almeida, Isabel Tavares; Vilarinho, Laura; Gaspar, Ana. "Tirosinemia Tipo 1: O Passado e o Presente Numa Unidade de Doenças Metabólicas". (2016): https://pjp.spp.pt//article/view/10425.
    10.25754/pjp.2016.10425
  29. Ferreira, Filipa; Almeida, Lígia S; Gaspar, Ana; Costa, Cláudia Dias da; Janeiro, Patrícia; Bandeira, Anabela; Martins, Esmeralda; et al. "Trimetilaminúria (Síndroma de odor a peixe) uma doença subestimada: espectro mutacional da população portuguesa". (2015): http://hdl.handle.net/10400.18/3017.
  30. Sampaio, Maria João; Figueiroa, Sónia; Temudo, Teresa; Gomes, Susana; Janeiro, Patricia; Silva, Rita Lopes da. "Síndrome de Guillain-Barré em idade pediátrica. Protocolo de actuação". (2014): https://pjp.spp.pt//article/view/4154.
    10.25754/pjp.2011.4154
  31. Deuchande, Sofia; Abecasis, Francisco; Fermeiro, Joana; Janeiro, Patrícia; Vieira, Marisa; Camilo, Cristina; Correia, Manuela. "A importância de doses maiores de naloxona no tratamento da intoxicação por metadona". (2014): https://pjp.spp.pt//article/view/4325.
    10.25754/pjp.2010.4325
  32. Ferreira, Marta; Mendes, Cristina; Janeiro, Patrícia; Conde, Marta; Aguiar, Teresa; João Brito, Maria. "Factores de risco para complicações e sequelas de meningites bacterianas". (2014): https://pjp.spp.pt//article/view/4525.
    10.25754/pjp.2009.4525
  33. Ferreira, Filipa; Esteves, Sofia; Almeida, Lígia S.; Gaspar, Ana; da Costa, Cláudia Dias; Janeiro, Patrícia; Bandeira, Anabela; et al. "Trimethylaminuria (fish odor syndrome): Genotype characterization among Portuguese patients". Gene 527 1 (2013): 366-370. http://dx.doi.org/10.1016/j.gene.2013.05.025.
    10.1016/j.gene.2013.05.025
  34. Cardoso, Maria Luís; Bandeira, Anabela; Lopes, Altina; Rodrigues, Márcia; Venâncio, Margarida; Marques, Jorge Sales; Janeiro, Patrícia; et al. "A síndrome de Smith-Lemli-Opitz: características fenotípicas e genotípicas dos doentes portugueses". (2012): https://pjp.spp.pt//article/view/1100.
    10.25754/pjp.2012.1100
  35. Rivera, Isabel; Mendes, Dina; Afonso, Ângela; Barroso, Madalena; Ramos, Ruben; Janeiro, Patrícia; Oliveira, Anabela; Gaspar, Ana; Tavares de Almeida, Isabel. "Phenylalanine hydroxylase deficiency: Molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients". Molecular Genetics and Metabolism 104 (2011): S86-S92. http://dx.doi.org/10.1016/j.ymgme.2011.07.026.
    10.1016/j.ymgme.2011.07.026
  36. Janeiro, Patrícia; Gomes S; Silva R; Brito M; Calado E. "Guillain-Barré Syndrome following Varicella – Clinical Case.". Revista de Neurologia 51 12 (2010): 764-765.
    Published
  37. Janeiro, Patrícia; Cunha, Manuel; Marques, António; Moura, Marta; Barroso, Rosalina; Carreiro, Helena. "Caloric intake and weight gain in a neonatal intensive care unit". European Journal of Pediatrics 169 1 (2009): 99-105. http://dx.doi.org/10.1007/s00431-009-0995-z.
    10.1007/s00431-009-0995-z
  38. Cunha, M. S.; Janeiro, Patrícia; Fernandes, R.; Carreiro, H.; Laurini, R.. "Congenital laryngomucocoele: a rare cause for CHAOS". Case Reports 2009 feb26 1 (2009): bcr0720080595-bcr0720080595. http://dx.doi.org/10.1136/bcr.07.2008.0595.
    10.1136/bcr.07.2008.0595
  39. Janeiro, Patrícia; Cunha M; Cordeiro I; Santos H; Antunes N. "Simultaneous occurrence of neurofibromatosis and tuberous sclerosis, acquired as neo-mutations/ Ocurrencia simultánea de neurofibromatosis y esclerosis tuberosa, adquiridas como neomutaciones.". Revista Neurologia 46 6 (2008): 347-350.
    Published
Thesis / Dissertation
  1. Capela, Mariana Lopes da Cruz. "Doença de Menkes : um caso clínico e revisão teórica". Master, 2015. http://hdl.handle.net/10451/25861.
  2. Pinto, Patrícia Cristina Carmo dos Lóios Lipari. "Défice do transportador de creatina : até onde investigar a causa de um atraso do desenvolvimento?". Master, 2014. http://hdl.handle.net/10451/24424.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2024/11/21 Early detection of IEM 19th Seminar from Child Development Centre
ASIC (Coimbra, Portugal)
2024/11/07 Liver and muscle Glycogen Storage Diseases SPDM Winter Meeting
SPDM (Unhais da Serra, Portugal)
2024/09/02 Overview on Clinical Practice, including Anesthesia and Post-Operative Care INFORM
INFORM (Porto, Portugal)
2024/02/23 The clinical picture from newborn to adult life Workshop on Classical Homocystinuria
Sociedade Portuguesa de Doenças Metabolicas (Lisboa, Portugal)
2023/11 Será metabólico? at XXVIII Leiria and Caldas da Rainha Pediatrics Conferences.
(Caldas da Rainha, Portugal)
2023/06/02 Cerebral Organic Acidurias. Invited oral communication at SPP 10th Course – Inborn errors of Metabolism in Images
SPP (Portugal)
2023 MCADD patients: How to face cardiac function biomarkers during acute episodes? 19th international SPDM symposium
(Fátima, Portugal)
2020/01/31 Evolution of the diagnosis of Hereditary Metabolic Disorders in Portugal, the experience of a reference center. XLVIII Conference of Medical Genetics Doutor Jacinto Magalhães.
(Portugal)
2019/03/16 Differences to the Portuguese PKU consensus. “Managing PKU during life” 15th international SPDM symposium.
Sociedade Portuguesa de doenças metabolicas (coimbra, Portugal)
2018/03/02 Inborn Errors of Protein Metabolism Treatment Guidelines. I Symposium of the Nutrition Service of the Centro Hospitalar do Porto “From evidence to good practice in clinical nutrition.”
(porto, Portugal)
2016/11/02 When to suspect of inborn errors of metabolism? 17th Symposium of the Portuguese Paediatric Society.
sociedade portuguesa de pediatria (porto, Portugal)
2016/02/26 Hospital de Santa Maria - rare metabolic diseases. Educational program of excellence on CDG: Workshop "Think metabolic, Think Congenital Disorders of Glycosylation (CDG)!
(lisboa, Portugal)
2015/03/19 Management of fatty-acid oxidation defects: data from a base daily experience. XI International Symposium SPDM.
Sociedade Portuguesa de doenças metabolicas (porto, Portugal)
2015/02/12 Mucopolysacharidosis: what they are and how to diagnose them? XXI Symposium of the Paediatric Department, Hospital de Santa Maria.
centro hospitalar lisboa norte (Portugal)
2014/10/16 Clinical case for discussion. Dysmorphology and radiology of inborn errors of metabolism.
(manchester, United Kingdom)
2014/07/05 Overview of PKU in Portugal. The experience of the Hospital de Santa Maria, Metabolic Diseases Unit. Beyond meeting – Much More than Innovation.
(lisboa, Portugal)
2013/11/29 Dyslipidaemia: Diagnosis and Treatment. Annual Meeting of the Portuguese Society of Endocrinology and Diabetology.
(lisboa, Portugal)
2013/09/03 Fatty acid beta-oxidation disorders: acute decompensations in the expanded newborn screening era. 12th International Congress of Inborn Errors of Metabolism.
(Barcelona, Spain)
2013/03/21 6 years of expanded newborn screening: experience of a Portuguese metabolic diseases unit. IX International Symposium of SPDM.
Sociedade Portuguesa de doenças metabolicas (coimbra, Portugal)
2012/11/08 Metabolic disease screening: history and results XIX Symposium of the Paediatric Department, Hospital de Santa Maria.
centro hospitalar lisboa norte (lisboa, Portugal)
2011/11/23 Phenylketonuria Round Table invited oral communication at XVIII Symposium of the Paediatric Department, Hospital de Santa Maria.
centro hospitalar lisboa norte (lisboa, Portugal)
2011/05/26 Pathology of intermediate metabolism due to Intoxication diseases. XL Portuguese Congress of Neonatology “Neonatal encephalopathy a multidisciplinary approach”.
sociedade portuguesa de neonatologia (coimbra, Portugal)
2011/03/25 Treatment and follow-up of tetrahydrobiopterin deficiencies. 3rd European Phenylketonuria Group Symposium “Advances and Challenges in PKU”.
(Lisboa, Portugal)
2010/11/04 Clinical outcomes of long-term enzyme replacement therapy for 6 children with Gaucher disease. VII International Symposium of SPDM.
(Algarve, Portugal)
2010/03/05 Infant with colic and developmental delay, could it be West's syndrome? Portuguese Neurodevelopmental Society Meeting.
sociedade portuguesa de neuropediatria (Aveiro, Portugal)
2008/10/15 Nutritional evaluation of the patients on a hypoproteic diet. 9th Symposium of the Portuguese Paediatric Society.
sociedade portuguesa de pediatria (Porto, Portugal)
2008/05/10 Caloric intake and weight gain in a neonatal intensive care unit. XXVI Congress of the Neonatal Branch of the Portuguese Society of Paediatrics.
sociedade portuguesa de pediatria (viseu, Portugal)
2005/10/13 Neurofibromatosis type 1 and tuberous sclerosis – a clinical case. XXXI Symposium of the Portuguese Paediatric Society
sociedade portuguesa de pediatria (Estoril, Portugal)

Supervision

Thesis Title
Role 		Degree Subject (Type)
Institution / Organization
2020 - 2020 Deficiência Múltipla das Acil-CoA Desidrogenases: Considerações a propósito de 4 casos clínicos
Supervisor
 Estudos Básicos de Medicina (Master)
Faculdade de Medicina da Universidade de Lisboa, Portugal
2016 - 2020 Leading orientation of the internship in Paediatrics of Patrícia Pinto
Supervisor
 Internato de Pediatria (Specialization course)
Centro Hospitalar Universitário Lisboa Norte EPE, Portugal
2015 - 2015 Doença de Menkes : um caso clínico e revisão teórica
Supervisor
 Estudos Básicos de Medicina (Master)
Faculdade de Medicina da Universidade de Lisboa, Portugal
2014 - 2014 Défice do transportador de creatina : até onde investigar a causa de um atraso do desenvolvimento?
Supervisor
 Estudos Básicos de Medicina (Master)
Faculdade de Medicina da Universidade de Lisboa, Portugal

Event organisation

Event name
Type of event (Role) 		Institution / Organization
2024/11/07 - 2024/11/09 SPDM Winter Meeting - Doenças do metabolismo energético Formação com avaliação na área das doenças hereditárias do metabolismo - doenças do metabolismo energético (2024/11/07 - 2024/11/09)
Workshop (President of the Organising Committee)
 Sociedade Portuguesa de Doenças Metabólicas, Portugal
2024/09/05 - 2024/09/05 Parallel session Moderation “Neurometabolic disorders” at the SSIEM symposium 2024 (2024/09/05 - 2024/09/05)
Congress (Other)
 Society for the Study of Inborn Errors of Metabolism, United Kingdom
2024/09 - 2024/09 Member of the Organizing Committee of SSIEM 2024 Annual Symposium (2024/09 - 2024/09)
Congress (Member of the Organising Committee)
 Society for the Study of Inborn Errors of Metabolism, United Kingdom
2024/04/05 - 2024/04/05 Satelite Meeting Moderation “PKU under the spotlights.” at the XX International Symposium. SPDM. Aveiro. 5 April, 2024. (2024/04/05 - 2024/04/05)
Meeting (Other)
 Sociedade Portuguesa de Doenças Metabólicas, Portugal
2024/03/01 - 2024/03/01 Free Communications Moderation at XXIX Symposium of the Paediatric Department, Hospital de Santa Maria. Lisbon, 29 February-1 March 2024 (2024/02/28 - 2024/03/01)
Congress (Other)
 Hospital de Santa Maria, Portugal
2014 - 2024 Member of the Organizing and Scientific Committees of International Symposiums of SPDM (2014 - 2024)
Congress (Member of the Scientific Committee)
2014 - 2024 Member of the Organizing and Scientific Committees of X, XI, XII, XIII, XIV, XVI, XVII, XVIII, XIX and XX International Symposiums of SPDM (2014 - 2024)
Congress (Member of the Organising Committee)
 Sociedade Portuguesa de Doenças Metabólicas, Portugal
2014 - 2024 Member of the Organizing and Scientific Committees of X, XI, XII, XIII, XIV, XVI, XVII, XVIII, XIX and XX International Symposiums of SPDM (2014 - 2024)
Congress (Member of the Scientific Committee)
 Sociedade Portuguesa de Doenças Metabólicas, Portugal
2017/02 - 2017/02 Member of the Organizing and Scientific Committees XXIII Symposium of the Paediatric Department of Hospital de Santa Maria CHULN (2017/02 - 2017/02)
Congress (Member of the Organising Committee)
 Hospital de Santa Maria, Portugal

Event participation

Activity description
Type of event 		Event name
Institution / Organization
2018 - 2024 Member of the European Metabolic Group
Conference
 European Metabolic Group

Association member

Society Organization name Role
2020 - Current Vice-president of the Board of the Portuguese Society of Metabolic Diseases (SPDM) Vice-president of the Board
2016 - Current Member of the working group of the Portuguese CDG Association (APCDG-DMR)
2014/03 - Current SPDM - Sociedade Portuguesa de Doenças Metabólicas Membro da Direcção
2014/01/01 - Current SSIEM - Society for the Study of Inborn Errors of Metabolism
2005 - Current SPP - Sociedade Portuguesa de Pediatria
2002 - Current Ordem dos Médicos
2016 - 2018 Member of the SPDM working group for Phenylketonuria Treatment membro

Committee member

Activity description
Role 		Institution / Organization
2021 - Current Member of the working group for Fatty acid b-oxidation defects, SPDM
Member
 Sociedade Portuguesa de Doenças Metabólicas, Portugal
2019 - Current Member of the working group of the European Reference Network MetabERN (FAO disorders)
Member
2018 - Current Member of the European Network and Registry for Intoxication type metabolic disorders (E-IMD) Healthy Programme of the EU
Member
2017 - Current Member of the international and registry network for galactosemia (GalNet)
Member
2015 - Current Member of the European Network and Registry for Homocystinurias and Methylation Defects(EHOD), Healthy Programme of the EU
Member

Course / Discipline taught

Academic session Degree Subject (Type) Institution / Organization
2023/12 - Current Metabolic Diseases Curso de Pediatria da APFH (Pós-Graduação)
2023/02/23 - Current The clinical picture from newborn to adult life Workshop on classical homocystinuria (Pós-Graduação) Sociedade Portuguesa de Doenças Metabólicas, Portugal
2021/12/06 - Current Classic Galactosemia – Nutritional adjustment and Follow-up. Glycogen storage diseases – Nutritional adjustment and Follow-up. SPDM-GN Postgraduate hybrid course. (Pós-Graduação) Nutricia a s, Czech Republic
2021/11/01 - Current When to suspect of Inborn Errors of Metabolism? Online course for preparing to the Pediatric internship final exam. (Pós-Graduação)
2021/06/25 - Current Clinical cases presentation. MSUD: the Pathophysiologic mechanisms. SPDM Spring Meeting Sociedade Portuguesa de Doenças Metabólicas, Portugal
2021/05/15 - Current When to suspect and how systematize neurometabolic disorders investigation? SPN Postgraduate neurometabolic online course (Pós-Graduação) Sociedade Portuguesa de Neuropediatria, Portugal
2020/12/09 - Current Metabolic emergencies. Basic training course of inborn errors of metabolism (Pós-Graduação)
2019/09/27 - Current Nutritional management of Homocystinuria. SEA – IEM 1th South European Academy – Nutrition Education of IEM. (Pós-Graduação) Piam Farmaceutici SpA, Italy
2019/06/07 - Current Interactive clinical cases – is it a mitochondrial disease? Post graduated Course on Mitochondrial diseases – a multidisciplinary approach. (Pós-Graduação) Sociedade Portuguesa de Doenças Metabólicas, Portugal
2019/02/13 - Current Intoxication diseases management in emergency care department. Post-graduated course at XXV Symposium of the Paediatric Department, Hospital de Santa Maria. (Pós-Graduação) Centro Hospitalar Universitário Lisboa Norte EPE, Portugal
2017/06/30 - Current Phenylketonuria - clinical manifestations, diagnosis and treatment. MSUD - clinical manifestations, diagnosis and treatment. When should we suspect metabolic diseases? Module IX – Metabolic Diseases. Centre for Training and Research, Department of Paediatrics, Hospital de Santa Maria, CHLN-CAML Association for the Children of Hospital de Santa Maria. Centro Hospitalar Universitário Lisboa Norte EPE, Portugal
2017/05/05 - Current Phenylketonuria, an overview: from the pathophysiology to the treatment options. Postgraduate course: The challenge of sapropterin in PKU´s therapy: how to face the adjustment of the dietetic treatment. (Pós-Graduação) Sociedade Portuguesa de Doenças Metabólicas, Portugal
2016/02/20 - Current Mucopolysacharidosis - overview. MSUD: clinical and therapeutic aspects. Metabolic Disease – who knows doesn´t forget! (Pós-Graduação) Centro Hospitalar Universitário Lisboa Norte EPE, Portugal
2015/10/09 - Current Overview of phenylketonuria in Portugal: the experience of the Hospital de Santa Maria, metabolic diseases unit. New challenges in the treatment of PKU - The Kuvan test protocol in use by the Portuguese hospitals: approved by the SPDM. Postgraduate course - New challenges in the treatment of Phenylketonuria. (Pós-Graduação) Sociedade Portuguesa de Doenças Metabólicas, Portugal
2015/06/24 - Current Metabolic Diseases Perspective. Therapeutic diets in Paediatrics Workshop. (Pós-Graduação) Centro Hospitalar Universitário Lisboa Norte EPE, Portugal
2015/06/18 - Current Diagnostic orientation of hepatomegaly in metabolic diseases. Clinical cases of metabolic diseases with hepatomegaly. 2nd Course of the Metabolic Diseases Section of the Portuguese Society of Paediatrics – Liver in Inborn errors of metabolism (Pós-Graduação) Sociedade Portuguesa de Pediatria, Portugal
2014/05/30 - Current Neuropathic forms of Gaucher´s disease - the experience of Hospital de Santa Maria, CHLN. Postgraduate training course – Lisosomal Diseases. (Pós-Graduação) Sociedade Portuguesa de Doenças Metabólicas, Portugal
2014/02/07 - Current Case reports: from clinical suspicion to diagnosis and follow-up. V Postgraduate Training Course SPDM and VI SPB Clinical Biochemistry Workshop – Peroxisomes and Mitochondrial: Players in Cellular Metabolism. (Pós-Graduação) Sociedade Portuguesa de Doenças Metabólicas, Portugal
2013/11/22 - Current Medical emergency in inborn errors of metabolism (NICU / paediatric urgency). 1st Postgraduate course in Paediatrics Lisbon Medical University. (Pós-Graduação) Centro Hospitalar Universitário Lisboa Norte EPE, Portugal
2013/11/08 - Current Galactosemia: a multi-organ disease. Postgraduate Course: Galactosemia (Pós-Graduação) Sociedade Portuguesa de Doenças Metabólicas, Portugal
2013/05/23 - Current Creatine deficiency syndromes. Metabolic diseases with neurological expression: Glutaric Aciduria type I. Training course in Neuropediatric, Portuguese Society of Neuropediatric (Pós-Graduação) Sociedade Portuguesa de Neuropediatria, Portugal
2008 - Current Congenital Disorders of Glycosylation type I – clinical case. Congenital Disorders of Glycosylation. Metabolic Diseases Course Centro Hospitalar e Universitario de Coimbra EPE Hospital Pediátrico de Coimbra, Portugal

Evaluation committee

Activity description
Role 		Institution / Organization Funding entity
2019 - Current Member of the academic staff and leading orientation of Inborn errors of metabolism differentiation degree.
Specialist
 Centro Hospitalar Universitário Lisboa Norte EPE, Portugal

Other jury / evaluation

Activity description Institution / Organization
2016 - 2018 Member of the jury of annual examinations of supplementary paediatrics internship Centro Hospitalar Universitário Lisboa Norte EPE, Portugal
Distinctions

Award

2023 Bolsa de Investigação ACSM 2023
2020 Menção Honrosa do Prémio Jaime Salazar de Sousa atribuído pela ACSM/Departamento de Pediatria do CHULN