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Author

Carlota Pascoal

Observed names: C. Pascoal, Pascoal, C., Pascoal, Carlota
ORCID: 0000-0001-5049-0579
Observed ORCID: 0000-0001-5049-0579
OpenAlex ID: A5085765615
Artificial Intelligence (AI) in Rare Diseases: Is the Future Brighter?
2019 · Sandra Brasil, Carlota Pascoal, et al. · Genes · 160
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International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up
2019 · Ruqaiah Altassan, Romain Péanne, et al. · Journal of Inherited Metabolic Disease · 149
The challenge of CDG diagnosis
2018 · R. Francisco, D. Marques-da-Silva, et al. · Molecular Genetics and Metabolism · 134
CDG Therapies: From Bench to Bedside
2018 · Sandra Brasil, Carlota Pascoal, et al. · International Journal of Molecular Sciences · 100
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International consensus guidelines for phosphoglucomutase 1 deficiency ( PGM1‐CDG ): Diagnosis, follow‐up, and management
2020 · Ruqaiah Altassan, Silvia Radenkovic, et al. · Journal of Inherited Metabolic Disease · 67
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Congenital disorders of glycosylation (CDG): state of the art in 2022
2023 · Rita Francisco, Sandra Brasil, et al. · Orphanet Journal of Rare Diseases · 66
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Inhibition of fucosylation in human invasive ductal carcinoma reduces E‐selectin ligand expression, cell proliferation, and ERK 1/2 and p38 MAPK activation
2017 · Mylène A. Carrascal, Mariana Silva, et al. · Molecular Oncology · 64
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CDG and immune response: From bedside to bench and back
2019 · Carlota Pascoal, Rita Francisco, et al. · Journal of Inherited Metabolic Disease · 52
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Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review
2018 · Carlota Pascoal, Sandra Brasil, et al. · Orphanet Journal of Rare Diseases · 51
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New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach
2020 · Rita Francisco, Carlota Pascoal, et al. · Journal of Clinical Medicine · 40
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Keeping an eye on congenital disorders of O‐glycosylation: A systematic literature review
2019 · Rita Francisco, Carlota Pascoal, et al. · Journal of Inherited Metabolic Disease · 32
Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives
2022 · Ana Piedade, Rita Francisco, et al. · Journal of Rare Diseases · 28
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Patient-reported outcomes and quality of life in PMM2-CDG
2022 · Anna N. Ligezka, Anab Mohamed, et al. · Molecular Genetics and Metabolism · 23
A Community-Based Participatory Framework to Co-Develop Patient Education Materials (PEMs) for Rare Diseases: A Model Transferable across Diseases
2023 · Marta Falcão, Mariateresa Allocca, et al. · International Journal of Environmental Research and Public Health · 20
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Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG)
2022 · Sandra Brasil, Mariateresa Allocca, et al. · International Journal of Molecular Sciences · 20
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Revisiting the immunopathology of congenital disorders of glycosylation: an updated review
2024 · Carlota Pascoal, Rita Francisco, et al. · Frontiers in Immunology · 13
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Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community
2024 · Pedro Granjo, Carlota Pascoal, et al. · Orphanet Journal of Rare Diseases · 10
Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals
2022 · C. Pascoal, I. Ferreira, et al. · Orphanet Journal of Rare Diseases · 10
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Stakeholders’ views on drug development: the congenital disorders of glycosylation community perspective
2022 · Maria Monticelli, Rita Francisco, et al. · Orphanet Journal of Rare Diseases · 9
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Sialyl LewisX/A and Cytokeratin Crosstalk in Triple Negative Breast Cancer
2023 · Carlota Pascoal, Mylène A. Carrascal, et al. · Cancers · 7
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Unraveling the biological potential of skin fibroblast: responses to TNF-α, highlighting intracellular signaling pathways and secretome
2025 · Carlota Pascoal, Pedro Granjo, et al. · Immunology Letters · 6
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)
2022 · Rita Francisco, Sandra Brasil, et al. · Orphanet Journal of Rare Diseases · 6
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Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review
2018 · R. Francisco, C. Pascoal, et al. · Journal of Inherited Metabolic Disease · 6
A Participatory Framework for Plain Language Clinical Management Guideline Development
2022 · Rita Francisco, Susana Alves, et al. · International Journal of Environmental Research and Public Health · 5
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A Community-Led Approach as a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation
2022 · Rita Francisco, Sandra Brasil, et al. · International Journal of Environmental Research and Public Health · 4
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Works count: 72
Citation count: 1,086
H-index: 15
I10-index: 18
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