• 375 Citations
  • 9 h-Index
20092019
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Fingerprint Dive into the research topics where Rita Francisco is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 17 Similar Profiles
Congenital Disorders of Glycosylation Medicine & Life Sciences
Droughts Medicine & Life Sciences
Metabolic Diseases Medicine & Life Sciences
Irrigation Engineering & Materials Science
Cistus Medicine & Life Sciences
drought Agriculture & Biology
Guidelines Medicine & Life Sciences
Proanthocyanidins Medicine & Life Sciences

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Research Output at NOVA 2009 2019

  • 375 Citations
  • 9 h-Index
  • 8 Article
  • 5 Review article
  • 1 Chapter
  • 1 Comment/debate

Artificial intelligence (AI) in rare diseases: Is the future brighter?

Brasil, S., Pascoal, C., Francisco, R., Ferreira, V. D. R., Videira, P. A. & Valadão, G., 1 Dec 2019, In : Genes. 10, 12, 978.

Research output: Contribution to journalReview article

Open Access
Artificial Intelligence
Rare Diseases
Congenital Disorders of Glycosylation
Technology
Aptitude

CDG and immune response: From bedside to bench and back

Pascoal, C., Francisco, R., Ferro, T., dos Reis Ferreira, V., Jaeken, J. & Videira, P. A., 1 Jan 2019, In : Journal of Inherited Metabolic Disease.

Research output: Contribution to journalReview article

Open Access
File
Congenital Disorders of Glycosylation
Glycosylation
Physiological Phenomena
Biological Phenomena
Inborn Genetic Diseases

Corrigendum to: International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up (Journal of Inherited Metabolic Disease, (2019), 42, 1, (5-28), 10.1002/jimd.12024)

Altassan, R., Péanne, R., Jaeken, J., Barone, R., Bidet, M., Borgel, D., Brasil, S., Cassiman, D., Cechova, A., Coman, D., Corral, J., Correia, J., Morena-Barrio, M. E. D. L., Lonlay, P. D., Ferreira, V. D. R., Ferreira, C. R., Fiumara, A., Francisco, R., Freeze, H., Funke, S. & 34 others, Gardeitchik, T., Gert, M., Girad, M., Giros, M., Grünewald, S., Hernández-Caselles, T., Honzik, T., Hutter, M., Krasnewich, D., Lam, C., Lee, J., Lefeber, D., Marques-Da-Silva, D., Martinez, A. F., Moravej, H., Ounap, K., Pascoal, C., Pascreau, T., Patterson, M., Quelhas, D., Raymond, K., Sarkhail, P., Schiff, M., Seroczyńska, M., Serrano, M., Seta, N., Sykut-Cegielska, J., Thiel, C., Tort, F., Vals, M-A., Videira, P. A., Witters, P., Zeevaert, R. & Morava, E., 1 May 2019, In : Journal of Inherited Metabolic Disease. 42, 3, 1 p.

Research output: Contribution to journalComment/debate

Congenital Disorders of Glycosylation
Metabolic Diseases
Names
Guidelines
Publications
6 Citations (Scopus)
2 Downloads (Pure)

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

Altassan, R., Péanne, R., Jaeken, J., Barone, R., Bidet, M., Borgel, D., Brasil, S., Cassiman, D., Cechova, A., Coman, D., Corral, J., Correia, J., Morena-Barrio, M. E. D. L., de Lonlay, P., Reis, V. D., Ferreira, C. R., Fiumara, A., Francisco, R., Freeze, H., Funke, S. & 34 others, Gardeitchik, T., Gert, M., Girad, M., Giros, M., Grünewald, S., Hernández-Caselles, T., Honzik, T., Hutter, M., Krasnewich, D., Lam, C., Lee, J., Lefeber, D., Marques-da-Silva, D., Martinez, A. F., Moravej, H., Õunap, K., Pascoal, C., Pascreau, T., Patterson, M., Quelhas, D., Raymond, K., Sarkhail, P., Schiff, M., Seroczyńska, M., Serrano, M., Seta, N., Sykut-Cegielska, J., Thiel, C., Tort, F., Vals, M. A., Videira, P., Witters, P., Zeevaert, R. & Morava, E., 1 Jan 2019, In : Journal of Inherited Metabolic Disease. 42, 1, p. 5-28 24 p.

Research output: Contribution to journalReview article

Open Access
File
Congenital Disorders of Glycosylation
Guidelines
Expert Testimony
Therapeutics
phosphomannomutase
1 Citation (Scopus)
Open Access
Metabolic Diseases
Quality of Life
Patient Reported Outcome Measures
Proxy
Research