| Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type C Nogueira, C Aiello, R Cerone, E Martins, U Caruso, I Moroni, C Rizzo, ... Molecular genetics and metabolism 93 (4), 475-480, 2008 | 113 | 2008 |
| Fungi in archives, libraries, and museums: a review on paper conservation and human health AC Pinheiro, SO Sequeira, MF Macedo Critical reviews in microbiology 45 (5-6), 686-700, 2019 | 87 | 2019 |
| Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases RR Maas, K Iwanicka‐Pronicka, S Kalkan Ucar, B Alhaddad, M AlSayed, ... Annals of neurology 82 (6), 1004-1015, 2017 | 62 | 2017 |
| Resting energy expenditure in disorders of propionate metabolism F Feillet, OAF Bodamer, MA Dixon, S Sequeira, JV Leonard The Journal of Pediatrics 136 (5), 659-663, 2000 | 46 | 2000 |
| Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community S Quental, S Macedo-Ribeiro, R Matos, L Vilarinho, E Martins, EL Teles, ... Molecular genetics and metabolism 94 (2), 148-156, 2008 | 45 | 2008 |
| Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A S Pereira, JP Vieira, F Barroca, P Roll, R Carvalhas, P Cau, S Sequeira, ... Neurology 63 (1), 191-192, 2004 | 42 | 2004 |
| Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients H Pavlu-Pereira, MJ Silva, C Florindo, S Sequeira, AC Ferreira, S Duarte, ... Orphanet Journal of Rare Diseases 15, 1-14, 2020 | 38 | 2020 |
| Fungal stains on paper: is what you see what you get? SO Sequeira, HP Carvalho, N Mesquita, A Portugal, MF Macedo Conservar Património 32, 18-27, 2018 | 31 | 2018 |
| Combining an innovative non-invasive sampling method and high-throughput sequencing to characterize fungal communities on a canvas painting HP de Carvalho, SO Sequeira, D Pinho, J Trovão, RMF da Costa, C Egas, ... International Biodeterioration & Biodegradation 145, 104816, 2019 | 30 | 2019 |
| Sulfite oxidase deficiency–an unusual late and mild presentation S Rocha, AC Ferreira, AI Dias, JP Vieira, S Sequeira Brain and Development 36 (2), 176-179, 2014 | 30 | 2014 |
| Incidence of maple syrup urine disease in Portugal S Quental, L Vilarinho, E Martins, EL Teles, E Rodrigues, L Diogo, ... Molecular genetics and metabolism 100 (4), 385-387, 2010 | 30 | 2010 |
| Iron-gall inks: a review of their degradation mechanisms and conservation treatments MJ Melo, V Otero, P Nabais, N Teixeira, F Pina, C Casanova, S Fragoso, ... Heritage Science 10 (1), 145, 2022 | 23 | 2022 |
| Leucine loading test is only discriminative for 3-methylglutaconic aciduria due to AUH defect SB Wortmann, LAJ Kluijtmans, S Sequeira, RA Wevers, E Morava JIMD Reports Volume 16, 1-6, 2014 | 19 | 2014 |
| Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies LM Reis, RC Tyler, E Weh, KE Hendee, KF Schilter, JA Phillips III, ... Clinical genetics 90 (4), 378-382, 2016 | 17 | 2016 |
| Cleaning fungal stains on paper with hydrogels: The effect of pH control RV Barrulas, AD Nunes, SO Sequeira, MH Casimiro, MC Corvo International Biodeterioration & Biodegradation 152, 104996, 2020 | 15 | 2020 |
| A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal AI Coelho, R Ramos, A Gaspar, C Costa, A Oliveira, L Diogo, P Garcia, ... Journal of inherited metabolic disease 37, 43-52, 2014 | 15 | 2014 |
| Congenital disorders of glycosylation in Portugal—two decades of experience D Quelhas, E Martins, L Azevedo, A Bandeira, L Diogo, P Garcia, ... The Journal of Pediatrics 231, 148-156, 2021 | 14 | 2021 |
| Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained … C Nogueira, L Silva, C Pereira, L Vieira, EL Teles, E Rodrigues, ... Mitochondrion 47, 309-317, 2019 | 14 | 2019 |
| Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations M Duarte, J Afonso, A Moreira, D Antunes, C Ferreira, H Correia, ... Brain and Development 39 (6), 539-541, 2017 | 12 | 2017 |
| MEGDEL syndrome: expanding the phenotype and new mutations S Sequeira, M Rodrigues, S Jacinto, RA Wevers, SB Wortmann Neuropediatrics 48 (05), 382-384, 2017 | 10 | 2017 |
