| 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 | 112 | 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 | 103 | 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 | 91 | 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 | 90 | 2019 |
| Inhibition of fucosylation in human invasive ductal carcinoma reduces E‐selectin ligand expression, cell proliferation, and ERK 1/2 and p38 MAPK activation MA Carrascal, M Silva, JS Ramalho, C Pen, M Martins, C Pascoal, ... Molecular oncology 12 (5), 579-593, 2018 | 72 | 2018 |
| CDG and immune response: From bedside to bench and back C Pascoal, R Francisco, T Ferro, V dos Reis Ferreira, J Jaeken, ... Journal of Inherited Metabolic Disease 43 (1), 90-124, 2020 | 47 | 2020 |
| 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 44 (1), 148-163, 2021 | 40 | 2021 |
| Keeping an eye on congenital disorders of O‐glycosylation: A systematic literature review R Francisco, C Pascoal, D Marques‐da‐Silva, E Morava, GA Gole, ... Journal of inherited metabolic disease 42 (1), 29-48, 2019 | 28 | 2019 |
| 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, 1-16, 2018 | 27 | 2018 |
| 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-reported outcomes and quality of life in PMM2-CDG AN Ligezka, A Mohamed, C Pascoal, VDR Ferreira, S Boyer, C Lam, ... Molecular genetics and metabolism 136 (2), 145-151, 2022 | 15 | 2022 |
| Congenital disorders of glycosylation (CDG): state of the art in 2022 R Francisco, S Brasil, J Poejo, J Jaeken, C Pascoal, PA Videira, ... Orphanet Journal of Rare Diseases 18 (1), 329, 2023 | 13 | 2023 |
| Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives A Piedade, R Francisco, J Jaeken, P Sarkhail, S Brasil, CR Ferreira, ... Journal of Rare Diseases 1 (1), 3, 2022 | 10 | 2022 |
| Systematic review: drug repositioning for congenital disorders of glycosylation (CDG) S Brasil, M Allocca, SCM Magrinho, I Santos, M Raposo, R Francisco, ... International Journal of Molecular Sciences 23 (15), 8725, 2022 | 9 | 2022 |
| A Videira, P., & Valadão, G.(2019) S Brasil, C Pascoal, R Francisco, V dos Reis Ferreira Artificial intelligence (AI) in rare diseases: is the future brighter, 0 | 8 | |
| A Community-Based Participatory Framework to Co-Develop Patient Education Materials (PEMs) for Rare Diseases: A Model Transferable across Diseases M Falcão, M Allocca, AS Rodrigues, P Granjo, R Francisco, C Pascoal, ... International Journal of Environmental Research and Public Health 20 (2), 968, 2023 | 7 | 2023 |
| Sialyl LewisX/A and Cytokeratin Crosstalk in Triple Negative Breast Cancer C Pascoal, MA Carrascal, DF Barreira, RA Lourenço, P Granjo, ... Cancers 15 (3), 731, 2023 | 5 | 2023 |
| Stakeholders’ views on drug development: the congenital disorders of glycosylation community perspective M Monticelli, R Francisco, S Brasil, D Marques-da-Silva, T Rijoff, ... Orphanet Journal of Rare Diseases 17 (1), 303, 2022 | 5 | 2022 |
| The road to successful people-centric research in rare diseases: the web-based case study of the Immunology and Congenital Disorders of Glycosylation questionnaire (ImmunoCDGQ) R Francisco, S Brasil, C Pascoal, J Jaeken, M Liddle, PA Videira, ... Orphanet Journal of Rare Diseases 17 (1), 134, 2022 | 5 | 2022 |
| Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals C Pascoal, I Ferreira, C Teixeira, E Almeida, A Slade, S Brasil, ... Orphanet Journal of Rare Diseases 17 (1), 398, 2022 | 3 | 2022 |
