| International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: diagnosis, treatment and follow up R Altassan, R Péanne, J Jaeken, R Barone, M Bidet, D Borgel, S Brasil, ... Journal of inherited metabolic disease 42 (1), 5-28, 2019 | 108 | 2019 |
| The challenge of CDG diagnosis R Francisco, D Marques-da-Silva, S Brasil, C Pascoal, ... Molecular genetics and metabolism 126 (1), 1-5, 2019 | 100 | 2019 |
| CDG therapies: from bench to bedside S Brasil, C Pascoal, R Francisco, D Marques-da-Silva, G Andreotti, ... International journal of molecular sciences 19 (5), 1304, 2018 | 89 | 2018 |
| Artificial intelligence (AI) in rare diseases: is the future brighter? S Brasil, C Pascoal, R Francisco, V dos Reis Ferreira, P A Videira, ... Genes 10 (12), 978, 2019 | 85 | 2019 |
| Protein misfolding diseases: prospects of pharmacological treatment A Gámez, P Yuste‐Checa, S Brasil, Á Briso‐Montiano, LR Desviat, ... Clinical genetics 93 (3), 450-458, 2018 | 55 | 2018 |
| The effects of PMM2‐CDG‐causing mutations on the folding, activity, and stability of the PMM2 protein P Yuste‐Checa, A Gámez, S Brasil, LR Desviat, M Ugarte, C Pérez‐Cerdá, ... Human mutation 36 (9), 851-860, 2015 | 53 | 2015 |
| Pharmacological Chaperoning: A Potential Treatment for PMM2‐CDG P Yuste‐Checa, S Brasil, A Gámez, J Underhaug, LR Desviat, M Ugarte, ... Human mutation 38 (2), 160-168, 2017 | 50 | 2017 |
| Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type A Jorge-Finnigan, S Brasil, J Underhaug, P Ruíz-Sala, B Merinero, ... Human molecular genetics 22 (18), 3680-3689, 2013 | 41 | 2013 |
| International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management R Altassan, S Radenkovic, AC Edmondson, R Barone, S Brasil, ... Journal of Inherited Metabolic Disease, 2020 | 35 | 2020 |
| Pseudoexon exclusion by antisense therapy in 6‐pyruvoyl‐tetrahydropterin synthase deficiency S Brasil, HM Viecelli, D Meili, A Rassi, LR Desviat, B Pérez, M Ugarte, ... Human mutation 32 (9), 1019-1027, 2011 | 32 | 2011 |
| New insights into immunological involvement in congenital disorders of glycosylation (CDG) from a people-centric approach R Francisco, C Pascoal, D Marques-da-Silva, S Brasil, ... Journal of clinical medicine 9 (7), 2092, 2020 | 26 | 2020 |
| Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review C Pascoal, S Brasil, R Francisco, D Marques-da-Silva, A Rafalko, ... Orphanet journal of rare diseases 13 (1), 1-16, 2018 | 26 | 2018 |
| Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies S Brasil, E Richard, A Jorge‐Finnigan, F Leal, B Merinero, R Banerjee, ... Clinical genetics 87 (6), 576-581, 2015 | 18 | 2015 |
| Artificial Intelligence in Epigenetic studies: shedding light on Rare Diseases S Brasil, CJDD Neves, T Rijoff, M Falcão, G Valadão, PAQ Videira, ... Frontiers in Molecular Biosciences 8, 314, 2021 | 17 | 2021 |
| Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene E Alonso-Barroso, S Brasil, Á Briso-Montiano, R Navarrete, ... Stem cell research 23, 173-177, 2017 | 14 | 2017 |
| Isolated and Combined Remethylation Disorders: Biochemical and Genetic Diagnosis and Pathophysiology E Richard, S Brasil, F Leal, R Navarrete, A Vega, MJ Ecay, LR Desviat, ... Journal of Inborn Errors of Metabolism and Screening 5, 2326409816685732, 2017 | 14 | 2017 |
| Molecular and phenotypic characteristics of seven novel mutations causing branched‐chain organic acidurias M Stojiljkovic, K Klaassen, M Djordjevic, A Sarajlija, S Brasil, B Kecman, ... Clinical genetics 90 (3), 252-257, 2016 | 12 | 2016 |
| New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type S Brasil, A Briso-Montiano, A Gamez, J Underhaug, MI Flydal, L Desviat, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1864 (2), 640-648, 2018 | 10 | 2018 |
| BBA-Molecular Basis of Disease S Brasil, A Briso-Montiano, A Gámez, J Underhaug, MI Flydal, L Desviat, ... | 10* | |
| Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type E Richard, S Brasil, A Briso-Montiano, E Alonso-Barroso, ME Gallardo, ... Stem cell research 29, 143-147, 2018 | 4 | 2018 |
