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Luisa Diogo obtained her medical degree and doctorate at the Faculty of Medicine, University of Coimbra. She completed her residency in Paediatrics at the Paediatric Hospital in Coimbra, where she has been working in the field of IEM since early 1990s. She did short observational stages in IEM, both clinical, at the Hôpital Necker ¿ Enfants-Malades (Prof. Saudubray), at the Wilhelmina Kinderziekenhuis, Utrecht (Prof Poll-The) and at Nijmegen Center for Mitochondrial Diseases (Prof Smeitink) and laboratorial, at the Purine and Pyrimidine Lab ¿ Guy¿s Hospital, London and at the Laboratory of Biochemical Genetics ¿ Center for Neuroscience and Cell Biology ¿ University of Coimbra, where she is a clinical consultant. Luisa Diogo has extensive expertise as a clinician in the diagnosis and treatment of paediatric inherited metabolic disorders. Her main interest is spreading clinical knowledge on IEM, both by teaching Biochemist and IEM to Medical students and promoting the annual Basic Course of IEM since 2004. She has promoted and been a jury member in several MSc and PhD thesis on IEM. She has participated in diverse research projects, clinical trials and patient registries and published many international peer reviewed clinical and scientific papers, mainly on IEM. She is a founder associate of the Portuguese Society of Inherited Metabolic Diseases ¿ SPDM, being a Member of the Board its President and the SSIEM Corresponding Member for a period. From 2007 to 2017 she was the Director of the Child Developmental Center, the Department of Pediatric Neurology, Development Pediatrics and IEM of Hospital Pediátrico-CHUC. She has over 80 publications and has participated in several projects, with highlight to MO-Ped 2018, a Clinical Trial where she was PI/coordinator in Portugal. She is currently the Coordinator of the Reference Center of Inherited Metabolic Diseases ¿CHUC, member of European Reference Network for Hereditary Metabolic Diseases, MetabERN.
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Identification

Personal identification

Full name
Luisa Maria de Abreu Freire Diogo Matos

Citation names

  • Matos, Luisa
  • Diogo, Luisa

Author identifiers

Ciência ID
ED17-CB2D-8337
ORCID iD
0000-0003-3821-6643

Email addresses

  • ld@chuc.min-saude.pt (Professional)

Languages

Language Speaking Reading Writing Listening Peer-review
English Beginner (A1) Beginner (A1) Beginner (A1) Beginner (A1)
Portuguese (Mother tongue)
French Beginner (A1) Beginner (A1) Beginner (A1) Beginner (A1)
Education
Degree Classification
2010
Concluded
 Medicina (Doutoramento)
Universidade de Coimbra Faculdade de Medicina, Portugal
"Caracterização clínica e bioquímica das doenças mitocondriais na criança – contribuição para o estudo epidemiológico na região centro de Portugal" (THESIS/DISSERTATION)
 Aprovação com distinção e louvor
1986/01/01 - 1991/01/29
Concluded
 Assitente Hospitalar (Especialização pós-licenciatura)
Major in Pediatria
Hospital Pediátrico de Coimbra, Portugal
 19,5 valores
1982
Concluded
 Medicina (Licenciatura)
Universidade de Coimbra Faculdade de Medicina, Portugal
 MUITO BOM
Affiliation

Others

Category
Host institution 		Employer
2016/03/11 - Current Coordinator of the Reference Centre of Inherited Metabolic Diseases Centro Hospitalar e Universitário de Coimbra EPE, Portugal
2012/06/01 - Current Invited Professor of Biochemistry Universidade de Coimbra, Portugal
1995/01/02 - Current Clinical Consultant of Laboratório de BioMedicina Mitocondrial e Teranóstica Universidade de Coimbra, Portugal
1991/01/02 - Current Clinical Assistant of Paediatrics, Metabolic Unit Centro Hospitalar e Universitário de Coimbra EPE, Portugal
2007/10/01 - 2017/11/01 Head of Serviço do Centro de Desenvolvimento da Criança- Neurodevelopment, Neuropediatrics and Inherited Metabolic Disorders- Hospital Pediátrico de Coimbra, Portugal
1984/01/02 - 2012/06/01 Invited Assistant of Biochemistry Universidade de Coimbra, Portugal
1994/11/01 - 1994/12/31 Visiting Fellowship Hôpital universitaire Necker-Enfants malades, France
1987/01/02 - 1991/01/02 Medical Training in Pediatrics Hospital Pediátrico de Coimbra, Portugal
1983/01/03 - 1986/12/31 General Medical Training Centro Hospitalar e Universitário de Coimbra EPE, Portugal
1983/09/01 - 1986/06/30 Invited Professor of Pharmacology Escola Superior de Enfermagem de Coimbra, Portugal
Projects

Other

Designation Funders
2018 - 2020 (CLINICAL TRIAL) MO-Ped: An Efficacy and Safety Study of Palovarotene for the Treatment of Multiple Osteocondromas.
NCT03442985
Principal investigator
Concluded
2013 - 2019 OPAL: A Non-interventional Post Authorization Study (PASS) to Evaluate Long-term Safety of Orfadin Treatment in Hypertyrosinemia Type 1 (HT-1) Patients in Standard Care.
NCT02320084
Researcher
Swedish Orphan Biovitrum AB, Sweden
Concluded
2012 - 2019 E-HOD - European network and registry for homocystinurias and methylation defects
The E-HOD project; No.2012_12_02
Researcher
Amsterdam UMC Locatie AMC, Netherlands
 European Commission
Concluded
1997 - 2010 Caracterização clínica e bioquímica das doenças mitocondriais na criança – contribuição para o estudo epidemiológico na região centro de Portugal
N/A
PhD Student Fellow
Universidade de Coimbra Faculdade de Medicina, Portugal
Concluded
Outputs

Publications

Book chapter
  1. Dias Costa, Filipa; Ferdinandusse, Sacha; Pinto, Carla; Dias, Andrea; Keldermans, Liesbeth; Quelhas, Dulce; Matthijs, Gert; et al. "Galactose Epimerase Deficiency: Expanding the Phenotype". In JIMD Reports, Volume 37, 19-25. Springer Berlin Heidelberg, 2017.
    10.1007/8904_2017_10
Conference paper
  1. Gaspar, Paulo; alves, sandra; Teles, Elisa Leão; Diogo, Luisa; Vilarinho, Laura. "Projet FIND - the first year". 2018.
  2. Nogueira, Célia; Garcia, Paula; Diogo, Luisa; Valongo, Carla; Santorelli, Filippo; Vilarinho, Laura. "Biochemical data as important clues for diagnosis of SUCLA2 defects". 2013.
  3. Sousa, Carmen; Fonseca, Helena; Rocha, Hugo; Marcão, Ana; Vilarinho, Laura; Diogo, Luísa; Sequeira, Sílvia; et al. "Biochemical and molecular heterogeneity in carnitine palmitoyltransferase ii deficiency". 2013.
  4. Nogueira, Célia; Garcia, Paula; Diogo, Luísa; Valongo, Carla; Santorelli, Filippo; Vilarinho, Laura. "A novel SUCLA2 mutation in a Portuguese patient". 2013.
  5. Nogueira, Célia; Garcia, Paula; Diogo, Luisa; Valongo, Carla; Santorelli, Filippo; Vilarinho, Laura. "A novel missense mutation in SUCLA2 associated with mild methylmalonic aciduria". 2012.
  6. Costa, Elísio; Oliveira, Jorge; Vieira, Emília; Garcia, Paula; Gonçalves, Isabel; Diogo, Luisa; Barbot, José; Santos, Rosário. "Molecular study of portuguese patients with clinical diagnosis of Shwachman-Diamond syndrome". 2007.
Journal article
  1. Dharmayat, Kanika Inamdar; Vallejo-Vaz, Antonio J.; Stevens, Christophe A.T.; Brandts, Julia M.; Lyons, Alexander R.M.; Groselj, Urh; Abifadel, Marianne; et al. "Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study". The Lancet 403 10421 (2024): 55-66. http://dx.doi.org/10.1016/s0140-6736(23)01842-1.
    10.1016/s0140-6736(23)01842-1
  2. Marta Simões; Maria João Santos; Sara Martins; Maria do Carmo Macário; João Durães; Luísa Diogo; João Paulo Oliveira; José Carlos Ferreira; Manuela Grazina. "Challenges in Genetic Diagnosis of Mitochondrial Diseases: What Can Functional Genomics' Studies Do?". Endocrine, Metabolic & Immune Disorders - Drug Targets 24 (2023): http://dx.doi.org/10.2174/0118715303273290231211062420.
    10.2174/0118715303273290231211062420
  3. Diogo, Rui; Diogo, Luísa; Serra, Rute; Almeida, Joana; Oliveira, Alexandra. "Mucopolysaccharidosis Type I: The Importance of Early Diagnosis for Adequate Treatment". Cureus (2023): http://dx.doi.org/10.7759/cureus.50595.
    10.7759/cureus.50595
  4. Carvalho, Sofia; Moreira, Luciana; Santos, Juliana Inês; Gaspar, Paulo; Gonçalves, Mariana; Matos, Liliana; David, Hugo; et al. "Help Comes from Unexpected Places: How a Tiny Fairy and a TropicalFish may help us Model Mucopolysaccharidoses". Endocrine, Metabolic & Immune Disorders - Drug Targets 24 (2023): http://dx.doi.org/10.2174/0118715303277318231024055425.
    10.2174/0118715303277318231024055425
  5. Diogo, Rui; Rua, Inês B; Ferreira, Sara; Nogueira, Célia; Pereira, Cristina; Rosmaninho-Salgado, Joana; Diogo, Luísa. "Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features". Cureus (2023): http://dx.doi.org/10.7759/cureus.48017.
    10.7759/cureus.48017
  6. Pereira Mendes, Joana; Nogueira, Andreia; Grilo, Ema; Ferreira, Sara; Diogo, Luísa; Cancelinha, Cândida. "Palliative Care in Children with Inherited Metabolic Diseases: Why does it matter?". Endocrine, Metabolic & Immune Disorders - Drug Targets 24 (2023): http://dx.doi.org/10.2174/0118715303278702231019093844.
    10.2174/0118715303278702231019093844
  7. Almeida, Joana; Ferreira, Fátima; Baptista, Nanci; Ferreira, Sara; Santos, Constança; Diogo, Luísa. "Citrullinemia and What Else?". Endocrine, Metabolic & Immune Disorders - Drug Targets 23 (2023): http://dx.doi.org/10.2174/0118715303280142231006103019.
    10.2174/0118715303280142231006103019
  8. Reigada, Sílvia; Santos, Constança; Ramos, Fabiana; Carvalho, Sílvia; Ribeiro, Joana; Cancelinha, Candida; Diogo, Luísa. "Combined Oxidative Phosphorylation Deficiency Type-13 with Perinatal Presentation: A Case Report". Endocrine, Metabolic & Immune Disorders - Drug Targets 23 (2023): http://dx.doi.org/10.2174/0118715303274239231005105248.
    10.2174/0118715303274239231005105248
  9. Martins, Sara; Santos, Maria João; Simões, Marta; Jacinto, Sandra; Martins Halpern, Cristina; Dupont, Juliette; Diogo, Luísa; Grazina, Manuela. "Diversities in Leigh Syndrome Associated with MT-ATP6 Gene Variants". Endocrine, Metabolic & Immune Disorders - Drug Targets 23 (2023): http://dx.doi.org/10.2174/0118715303273271230928060000.
    10.2174/0118715303273271230928060000
  10. Alves, Ana Catarina; Miranda, Beatriz; Moldovan, Oana; Santo, Raquel Espírito; Gouveia Silva, Raquel; Soares Cardoso, Sandra; Diogo, Luísa; et al. "Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal". Frontiers in Genetics 13 (2023): http://dx.doi.org/10.3389/fgene.2022.1088040.
    10.3389/fgene.2022.1088040
  11. Sara Martins; Maria João Santos; Márcia Teixeira; Luísa Diogo; Maria do Carmo Macário; João Pedro Marques; Pedro Fonseca; Manuela Grazina. "GenEye24: Novel rapid screening test for the top-3 Leber’s Hereditary Optic Neuropathy pathogenic sequence variants". Mitochondrion 69 (2023): 64-70.
    Open access • 10.1016/j.mito.2023.01.006
  12. Catarina, Teixeira; Catarina, Cordeiro; Carla, Pinto; Luísa, Diogo. "Clinical Presentation of Inherited Metabolic Diseases in Newborns Hospitalised in an Intensive Care Unit.". Journal of mother and child 27 (2023):
  13. Guerra, Inês M. S.; Ferreira, Helena B.; Melo, Tânia; Rocha, Hugo; Moreira, Sónia; Diogo, Luísa; Domingues, Maria Rosário; Moreira, Ana S. P.. "Mitochondrial Fatty Acid ß-Oxidation Disorders: From Disease to Lipidomic Studies—A Critical Review". International Journal of Molecular Sciences 23 22 (2022): 13933. http://dx.doi.org/10.3390/ijms232213933.
    10.3390/ijms232213933
  14. Diogo Reis-Carneiro; Conceição Robalo; Mário Laço; Marie Vidailhet; Luísa Diogo. "Progressive Generalized Dystonia-Parkinsonism in a Child with Fumaric Aciduria". Movement Disorders Clinical Practice 9 (2022): 707-709.
    Open access • 10.1002/mdc3.13450
  15. "Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey". The Journal of Pediatrics 239 (2021): 231-234.e2. http://dx.doi.org/10.1016/j.jpeds.2021.08.070.
    10.1016/j.jpeds.2021.08.070
  16. "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
  17. "Plasma Phospholipidomic Profile Differs between Children with Phenylketonuria and Healthy Children". Journal of Proteome Research 20 5 (2021): 2651-2661. http://dx.doi.org/10.1021/acs.jproteome.0c01052.
    10.1021/acs.jproteome.0c01052
  18. 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 (2021): http://dx.doi.org/10.1002/mgg3.1559.
    Published • 10.1002/mgg3.1559
  19. 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 (2020): http://dx.doi.org/10.1016/j.jpeds.2020.12.026.
    Published • 10.1016/j.jpeds.2020.12.026
  20. Guerra, Inês M.S.; Ferreira, Helena B.; Neves, Bruna; Melo, Tânia; Diogo, Luísa M.; Domingues, M. Rosário; Moreira, Ana S.P.. "Lipids and phenylketonuria: Current evidences pointed the need for lipidomics studies". Archives of Biochemistry and Biophysics 688 (2020): 108431. http://dx.doi.org/10.1016/j.abb.2020.108431.
    Published • 10.1016/j.abb.2020.108431
  21. Gomes, Hugo A.; Garcia, Paula; Diogo, Luísa; Pires, António; Martins, Paula. "Experience on statin therapy in paediatric age: retrospective study in a Portuguese referral centre". Cardiology in the Young 30 6 (2020): 840-851. http://dx.doi.org/10.1017/s1047951120001158.
    Published • 10.1017/s1047951120001158
  22. Huemer, Martina; Diodato, Daria; Martinelli, Diego; Olivieri, Giorgia; Blom, Henk; Gleich, Florian; Kölker, Stefan; et al. "Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry". Journal of Inherited Metabolic Disease 42 2 (2019): 333-352. http://dx.doi.org/10.1002/jimd.12041.
    Published • 10.1002/jimd.12041
  23. Vals, Mari-Anne; Ashikov, Angel; Ilves, Pilvi; Loorits, Dagmar; Zeng, Qiang; Barone, Rita; Huijben, Karin; et al. "Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients". Journal of Inherited Metabolic Disease 42 3 (2019): 553-564. http://dx.doi.org/10.1002/jimd.12055.
    Published • 10.1002/jimd.12055
  24. Romão Luz, Inês; Pereira, Cristina; Garcia, Paula; Ferreira, Fátima; Faria, Ana; Macedo, Cristiane; Diogo, Luísa; Robalo, Conceição. "Ketogenic Diet for Refractory Childhood Epilepsy: Beyond Seizures Control, the Experience of a Portuguese Pediatric Centre". (2019): https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/12184.
    10.20344/amp.12184
  25. Bruun, Theodora U. J.; Sidky, Sarah; Bandeira, Anabela O.; Debray, Francoise-Guillaume; Ficicioglu, Can; Goldstein, Jennifer; Joost, Kairit; et al. "Treatment outcome of creatine transporter deficiency: international retrospective cohort study". Metabolic Brain Disease 33 3 (2018): 875-884. http://dx.doi.org/10.1007/s11011-018-0197-3.
    10.1007/s11011-018-0197-3
  26. Dias Costa, Filipa; Moinho, Rita; Ferreira, Sandra; Garcia, Paula; Diogo, Luísa; Gonçalves, Isabel; Pinto, Carla. "Acute liver failure related to inherited metabolic diseases in young children". Anales de Pediatría 88 2 (2018): 69-74. http://dx.doi.org/10.1016/j.anpedi.2017.02.012.
    10.1016/j.anpedi.2017.02.012
  27. Zhang, Shen-Ying; Clark, Nathaniel E.; Freije, Catherine A.; Pauwels, Elodie; Taggart, Allison J.; Okada, Satoshi; Mandel, Hanna; et al. "Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection". Cell 172 5 (2018): 952-965.e18. http://dx.doi.org/10.1016/j.cell.2018.02.019.
    Published • 10.1016/j.cell.2018.02.019
  28. Bacalhau, Mafalda; Pratas, João; Simões, Marta; Mendes, Cândida; Ribeiro, Carolina; Santos, Maria J.; Diogo, Luisa; Macário, Maria Carmo; Grazina, Manuela. "Response to “In silico prediction is insufficient to assess pathogenicity of mtDNA variants”". European Journal of Medical Genetics 61 1 (2018): 46-47. http://dx.doi.org/10.1016/j.ejmg.2017.08.008.
    10.1016/j.ejmg.2017.08.008
  29. Regateiro, Frederico S.; Belkaya, Serkan; Neves, Nélson; Ferreira, Sandra; Silvestre, Paula; Lemos, Sónia; Venâncio, Margarida; et al. "Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS". European Journal of Medical Genetics 60 8 (2017): 426-432. http://dx.doi.org/10.1016/j.ejmg.2017.05.005.
    10.1016/j.ejmg.2017.05.005
  30. Bacalhau, Mafalda; Pratas, João; Simões, Marta; Mendes, Cândida; Ribeiro, Carolina; Santos, Maria J.; Diogo, Luísa; Macário, Maria Carmo; Grazina, Manuela. "In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes". European Journal of Medical Genetics 60 3 (2017): 172-177. http://dx.doi.org/10.1016/j.ejmg.2016.12.009.
    10.1016/j.ejmg.2016.12.009
  31. Ribeiro, Carolina; do Carmo Macário, Maria; Viegas, Ana Teresa; Pratas, João; Santos, Maria João; Simões, Marta; Mendes, Cândida; et al. "Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency". Mitochondrion 31 (2016): 84-88. http://dx.doi.org/10.1016/j.mito.2016.10.004.
    10.1016/j.mito.2016.10.004
  32. Yubero, Delia; Montero, Raquel; Martín, Miguel A.; Montoya, Julio; Ribes, Antonia; Grazina, Manuela; Trevisson, Eva; et al. "Secondary coenzyme Q 10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders". Mitochondrion 30 (2016): 51-58. http://dx.doi.org/10.1016/j.mito.2016.06.007.
    10.1016/j.mito.2016.06.007
  33. Oliveira, Renata; Ewen W Sommerville; Kyle Thompson; Joana Nunes; Angela Pyle; Manuela Grazina; Patrick F Chinnery; et al. "Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features". JIMD Reports 2017 33 (2016): 61-68. https://pubmed.ncbi.nlm.nih.gov/27571996/.
    https://doi.org/10.1007/8904_2016_581
  34. Louro, Pedro; Ramos, Lina; Robalo, Conceição; Cancelinha, Cândida; Dinis, Alexandra; Veiga, Ricardo; Pina, Raquel; et al. "Phenotyping GABA transaminase deficiency: a case description and literature review". Journal of Inherited Metabolic Disease 39 5 (2016): 743-747. http://dx.doi.org/10.1007/s10545-016-9951-z.
    10.1007/s10545-016-9951-z
  35. Ng, Bobby G.; Shiryaev, Sergey A.; Rymen, Daisy; Eklund, Erik A.; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E.; et al. "ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients". Human Mutation 37 7 (2016): 653-660. http://dx.doi.org/10.1002/humu.22983.
    10.1002/humu.22983
  36. Jansen, Jos C.; Cirak, Sebahattin; van Scherpenzeel, Monique; Timal, Sharita; Reunert, Janine; Rust, Stephan; Pérez, Belén; et al. "CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation". The American Journal of Human Genetics 98 2 (2016): 310-321. http://dx.doi.org/10.1016/j.ajhg.2015.12.010.
    10.1016/j.ajhg.2015.12.010
  37. Wamelink, Mirjam M. C.; Ramos, Ruben J. J. F.; van den Elzen, Annette P. M.; Ruijter, George J. G.; Bonte, Ramon; Diogo, Luisa; Garcia, Paula; et al. "First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?". Journal of Inherited Metabolic Disease 38 5 (2015): 889-894. http://dx.doi.org/10.1007/s10545-014-9809-1.
    10.1007/s10545-014-9809-1
  38. Coelho, Ana I; Lourenço, Sílvia; Trabuco, Matilde; Silva, Maria João; Oliveira, Anabela; Gaspar, Ana; Diogo, Luísa; et al. "Functional correction by antisense therapy of a splicing mutation in the GALT gene". European Journal of Human Genetics 23 4 (2014): 500-506. http://dx.doi.org/10.1038/ejhg.2014.149.
    10.1038/ejhg.2014.149
  39. Brito, Manuel João; Diogo, Luisa; Almeida, Isabel Tavares; Ganha, Jeni. "Acidémia Metilmalónica — Forma Tardia Caso Clínico". (2014): https://pjp.spp.pt//article/view/5774.
    10.25754/pjp.1996.5774
  40. Ramos, Lina; Cunha, Manuel; Vicente, Lurdes; Velho, Sérgio; Canha, Jeni; Pragana, Luísa; Oliveira, Rosa; Almeida, Isabel T.; Diogo, Luísa. "Leucinose Neonatal. Experiência do Hospital Pediátrico de Coimbra". (2014): https://pjp.spp.pt//article/view/5431.
    10.25754/pjp.1999.5431
  41. Saraiva, Jorge M.; Matoso, Eunice; Garcia, Paula; Bento, Gisela; Diogo, Luísa; Marques, Isabel. "Cromossomopatia com Cariotipo Normal em Linfócitos: Caso Clínico". (2014): https://pjp.spp.pt//article/view/5108.
    10.25754/pjp.2003.5108
  42. Loureiro, Susana; Gata, Lia; Almeida, Joana; Lontro, Raquel; Diogo, Luísa; Oliveira, Guiomar. "Défice cognitivo por defeito da síntese de creatina". (2014): https://pjp.spp.pt//article/view/4360.
    10.25754/pjp.2010.4360
  43. Oliveira, Renata; Pereira, Cristina; Rodrigues, Fidjy; Alfaite, Claudia; Garcia, Paula; Robalo, Conceição; Fineza, Isabel; et al. "Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome". Epileptic Disorders 15 4 (2013): 400-406. http://dx.doi.org/10.1684/epd.2013.0610.
    10.1684/epd.2013.0610
  44. Coelho, Ana I.; Ramos, Ruben; Gaspar, Ana; Costa, Cláudia; Oliveira, Anabela; Diogo, Luísa; Garcia, Paula; et al. "A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal". Journal of Inherited Metabolic Disease 37 1 (2013): 43-52. http://dx.doi.org/10.1007/s10545-013-9623-1.
    10.1007/s10545-013-9623-1
  45. Loureiro Neves, F.; Garcia, P.C.; Madureira, N.; Araújo, H.; Rodrigues, F.; Estêvão, M.H.; Lacerda, L.; Diogo Matos, L.M.. "Juvenile pompe disease: Retrospective clinical study | Doença de pompe juvenil: Estudo retrospetivo de casuística clínica". Acta Medica Portuguesa 26 4 (2013): 361-370. http://www.scopus.com/inward/record.url?eid=2-s2.0-84883512664&partnerID=MN8TOARS.
  46. Stockler-Ipsiroglu, S.; van Karnebeek, C.; Longo, N.; Korenke, G.C.; Mercimek-Mahmutoglu, S.; Marquart, I.; Barshop, B.; et al. "Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring". Molecular Genetics and Metabolism 111 1 (2013): 16-25. http://www.scopus.com/inward/record.url?eid=2-s2.0-84887655381&partnerID=MN8TOARS.
    10.1016/j.ymgme.2013.10.018
  47. Veríssimo, C.; Garcia, P.; Simões, M.; Robalo, C.; Henriques, R.; Diogo, L.; Grazina, M.. "Nonketotic hyperglycinemia: A cause of encephalopathy in children". Journal of Child Neurology 28 2 (2013): 251-254. http://www.scopus.com/inward/record.url?eid=2-s2.0-84872867628&partnerID=MN8TOARS.
    10.1177/0883073812441063
  48. Nunes, J.; Loureiro, S.; Carvalho, S.; Pais, R.P.; Alfaiate, C.; Faria, A.; Garcia, P.; Diogo, L.. "Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1". Neuroradiology Journal 26 2 (2013): 155-161. http://www.scopus.com/inward/record.url?eid=2-s2.0-84879007765&partnerID=MN8TOARS.
  49. van de Kamp, J.M.; Betsalel, O.T.; Mercimek-Mahmutoglu, S.; Abulhoul, L.; Grünewald, S.; Anselm, I.; Azzouz, H.; et al. "Phenotype and genotype in 101 males with x-linked creatine transporter deficiency". Journal of Medical Genetics 50 7 (2013): 463-472. http://www.scopus.com/inward/record.url?eid=2-s2.0-84883192433&partnerID=MN8TOARS.
    10.1136/jmedgenet-2013-101658
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  61. Luís, P.B.M.; Ruiter, J.P.; Ofman, R.; Ijlst, L.; Moedas, M.; Diogo, L.; Garcia, P.; et al. "Valproic acid utilizes the isoleucine breakdown pathway for its complete ß-oxidation". Biochemical Pharmacology 82 11 (2011): 1740-1746. http://www.scopus.com/inward/record.url?eid=2-s2.0-80255136274&partnerID=MN8TOARS.
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  62. Diogo, L.; Cordeiro, M.; Garcia, P.; Fineza, I.; Moura, C.; Oliveira, C.R.; Veiga, M.; Garcia, T.; Grazina, M.. "Value of Brain Magnetic Resonance Imaging in Mitochondrial Respiratory Chain Disorders". Pediatric Neurology 42 3 (2010): 196-200. http://www.scopus.com/inward/record.url?eid=2-s2.0-76249116575&partnerID=MN8TOARS.
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  63. Garcia, P.; Sousa, S.B.; Ling, T.P.; Conceiço, M.; Seabra, J.; White, K.K.; Diogo, L.. "Skeletal complications in mucopolysaccharidosis VI patients: Case reports". Journal of Pediatric Rehabilitation Medicine 3 1 (2010): 63-69. http://www.scopus.com/inward/record.url?eid=2-s2.0-77953423498&partnerID=MN8TOARS.
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  65. Vilarinho, Laura; Tafulo, Sandra; Sibilio, Michelina; Kok, Fernando; Fontana, Federica; Diogo, Luisa; Venâncio, Margarida; et al. "Identification of novel L2HGDH gene mutations and update of the pathological spectrum". Journal of Human Genetics 55 1 (2010): 55-58. http://hdl.handle.net/10400.18/177.
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  68. Jones, John G.; Garcia, Paula; Barosa, Cristina; Delgado, Teresa C.; Diogo, Luisa; Jones, J.G.; Garcia, P.; et al. "Hepatic anaplerotic outflow fluxes are redirected from gluconeogenesis to lactate synthesis in patients with Type 1a glycogen storage disease". Metabolic Engineering 11 3 (2009): 155-162. http://hdl.handle.net/10316/9978.
    10.1016/j.ymben.2009.01.003
  69. Nogueira, Célia; Aiello, Chiara; Cerone, Roberto; Martins, Esmeralda; Caruso, Ubaldo; Moroni, Isabella; Rizzo, Cristiano; et al. "Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type". Molecular Genetics and Metabolism 93 4 (2008): 475-480. http://dx.doi.org/10.1016/j.ymgme.2007.11.005.
    10.1016/j.ymgme.2007.11.005
  70. Oliveira, J.; Soares-Silva, I.; Fokkema, I.; Gonçalves, A.; Cabral, A.; Diogo, L.; Galán, L.; et al. "Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy". Journal of Human Genetics 53 6 (2008): 565-572. http://www.scopus.com/inward/record.url?eid=2-s2.0-44449085738&partnerID=MN8TOARS.
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  73. Garcia, P.; Martins, E.; Diogo, L.; Rocha, H.; Marcão, A.; Gaspar, E.; Almeida, M.; et al. "Outcome of three cases of untreated maternal glutaric aciduria type I". European Journal of Pediatrics 167 5 (2008): 569-573. http://www.scopus.com/inward/record.url?eid=2-s2.0-41049093049&partnerID=MN8TOARS.
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  74. Grazina, M.M.; Diogo, L.M.; Garcia, P.C.; Silva, E.D.; Garcia, T.D.; Robalo, C.B.; Oliveira, C.R.; et al. "Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation-A case report". European Journal of Paediatric Neurology 11 2 (2007): 115-118. http://www.scopus.com/inward/record.url?eid=2-s2.0-33847234224&partnerID=MN8TOARS.
    10.1016/j.ejpn.2006.11.015
  75. Campos, A.P.; Vaz, C.; Duque, F.; Leite, M.; Vilarinho, L.; Diogo, L.; Garcia, P.. "Galactosemia: A neurometabolic disease | Galactosemia: Una enfermedad neurometabólica". Revista de Neurologia 44 11 (2007): 702-703. http://www.scopus.com/inward/record.url?eid=2-s2.0-35148823786&partnerID=MN8TOARS.
  76. Duarte, I.F.; Goodfellow, B.J.; Barros, A.; Jones, J.G.; Barosa, C.; Diogo, L.; Garcia, P.; et al. "Metabolic characterisation of plasma in juveniles with glycogen storage disease type 1a (GSD1a) by high-resolution 1H NMR spectroscopy". NMR in Biomedicine 20 4 (2007): 401-412. http://www.scopus.com/inward/record.url?eid=2-s2.0-34249731949&partnerID=MN8TOARS.
    10.1002/nbm.1073
  77. Costa, E.; Duque, F.; Oliveira, J.; Garcia, P.; Gonçalves, I.; Diogo, L.; Santos, R.; et al. "Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome". Blood Cells, Molecules, and Diseases 39 1 (2007): 96-101. http://www.scopus.com/inward/record.url?eid=2-s2.0-34248515700&partnerID=MN8TOARS.
    10.1016/j.bcmd.2007.02.002
  78. Assereto, S.; van Diggelen, O.P.; Diogo, L.; Morava, E.; Cassandrini, D.; Carreira, I.; de Boode, W.-P.; et al. "Null mutations and lethal congenital form of glycogen storage disease type IV". Biochemical and Biophysical Research Communications 361 2 (2007): 445-450. http://www.scopus.com/inward/record.url?eid=2-s2.0-34547515164&partnerID=MN8TOARS.
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  79. Jones, J.; Barosa, C.; Gomes, F.; Carina Mendes, A.; Delgado, T.; Diogo, L.; Garcia, P.; et al. "NMR Derivatives for quantification of 2H and 13C-enrichment of human glucuronide from metabolic tracers". Journal of Carbohydrate Chemistry 25 2-3 (2006): 203-217. http://www.scopus.com/inward/record.url?eid=2-s2.0-33745133402&partnerID=MN8TOARS.
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  80. Correia, C.; Coutinho, A.M.; Diogo, L.; Grazina, M.; Marques, C.; Miguel, T.; Ataíde, A.; et al. "Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: No association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene". Journal of Autism and Developmental Disorders 36 8 (2006): 1137-1140. http://www.scopus.com/inward/record.url?eid=2-s2.0-33845912666&partnerID=MN8TOARS.
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  82. Oliveira, G.; Diogo, L.; Grazina, M.; Garcia, P.; Ataíde, A.; Marques, C.; Miguel, T.; et al. "Mitochondrial dysfunction in autism spectrum disorders: A population-based study". Developmental Medicine and Child Neurology 47 3 (2005): 185-189. http://www.scopus.com/inward/record.url?eid=2-s2.0-14044258489&partnerID=MN8TOARS.
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  83. Vilarinho, L.; Cardoso, M.L.; Gaspar, P.; Barbot, C.; Azevedo, L.; Diogo, L.; Santos, M.; et al. "Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.". Human mutation. 26 4 (2005): 395-396. http://www.scopus.com/inward/record.url?eid=2-s2.0-33745057899&partnerID=MN8TOARS.
  84. Diogo, L.; Proença, T.; Garcia, P.; Oliveira, C.; Simmonds, A.. "Inherited disorders of purine and pyrimidine metabolism: State of art. Contribution for diagnosis | Doenças hereditárias das purinas e pirimidinas: Estado da arte. Contribuição para o diagnóstico". Acta Medica Portuguesa 17 1 (2004): 67-69. http://www.scopus.com/inward/record.url?eid=2-s2.0-9744256969&partnerID=MN8TOARS.
  85. Cardoso, M.L.; Rodrigues, M.R.; Leão, E.; Martins, E.; Diogo, L.; Rodrigues, E.; Garcia, P.; Rolland, M.O.; Vilarinho, L.. "The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency". Molecular Genetics and Metabolism 82 4 (2004): 334-338. http://www.scopus.com/inward/record.url?eid=2-s2.0-4043052307&partnerID=MN8TOARS.
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  86. Barbot, C.; Fineza, I.; Diogo, L.; Maia, M.; Melo, J.; Guimarães, A.; Pires, M.M.; Cardoso, M.L.; Vilarinho, L.. "L-2-Hydroxyglutaric aciduria: Clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients". Brain and Development 19 4 (1997): 268-273. http://www.scopus.com/inward/record.url?eid=2-s2.0-0030994414&partnerID=MN8TOARS.
    10.1016/S0387-7604(97)00574-3
  87. Diogo, L.; Fineza, I.; Canha, J.; Borges, L.; Cardoso, M.L.; Vilarinho, L.. "Macrocephaly as the presenting feature of L-2-hydroxyglutaric aciduria in a 5-month-old boy". Journal of Inherited Metabolic Disease 19 3 (1996): 369-370. http://www.scopus.com/inward/record.url?eid=2-s2.0-0030005506&partnerID=MN8TOARS.
    10.1007/BF01799270
Report
  1. Vilarinho, Laura; Diogo, Luísa; Pinho e Costa, Paulo. 2017. Programa Nacional de Diagnóstico Precoce: relatório 2016. http://hdl.handle.net/10400.18/4932.
  2. Vilarinho, Laura; Pinho e Costa, Paulo; Diogo, Luísa. 2016. Programa Nacional de Diagnóstico Precoce: relatório 2015. http://hdl.handle.net/10400.18/4073.
  3. Vilarinho, Laura; Pinho e Costa, Paulo; Diogo, Luísa. 2015. Programa Nacional de Diagnóstico Precoce: Relatório 2014. http://hdl.handle.net/10400.18/3204.
Thesis / Dissertation
  1. Portela, Carolina Alves. "Jaundice in the first year of life - the experience of a Tertiary Hospital". Master, 2017. http://hdl.handle.net/10316/82246.
  2. Oliveira, Mariana Massa. "Evaluation of the bone repercussions of hyperlactacidaemia in patients with hereditary metabolic diseases". Master, 2017. http://hdl.handle.net/10316/81961.
  3. Silva, Cláudia Margarida Roque dos Santos. "Doseamento de hipocretina no diagnóstico da narcolepsia : acerca de um caso". Master, 2015. http://hdl.handle.net/10316/30750.
  4. Neves, Filipa Loureiro. "Doença de Pompe juvenil : a propósito de quatro casos clínicos". Master, 2012. http://hdl.handle.net/10316/41490.
  5. Malheiro, Rui César Albergaria. "Síndromas de deficiência de creatina cerebral". Master, 2011. http://hdl.handle.net/10316/85667.
  6. Martins, João Daniel Barreira Rio Torto. "Cefaleias em urgência pediátrica : estudo prospectivo". Master, 2011. http://hdl.handle.net/10316/80757.
  7. Matos, Luísa Maria de Abreu Freire Diogo. "Caracterização clínica e bioquímica das doenças mitocondriais na criança: contribuição para o estudo epidemiológico na Região Centro de Portugal". PhD, 2010. http://hdl.handle.net/10316/13553.
  8. Faria, Ana Catarina Vaz Pinheiro de Furtado. "Suplementação com ácido docosahexaenóico em crianças com doenças hereditárias do catabolismo proteico". Master, 2009. http://hdl.handle.net/10316/17915.