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Sandra Dolores Arduim Brasil

  • 7 Citations
  • 1 h-Index
20182019
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  • 3 Similar Profiles
Congenital Disorders of Glycosylation Medicine & Life Sciences
Metabolic Diseases Medicine & Life Sciences
Guidelines Medicine & Life Sciences
Artificial Intelligence Medicine & Life Sciences
Rare Diseases Medicine & Life Sciences
Names Medicine & Life Sciences
Quality of Life Medicine & Life Sciences
Publications Medicine & Life Sciences

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Research Output at NOVA 2018 2019

  • 7 Citations
  • 1 h-Index
  • 3 Review article
  • 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 journal › Review article

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

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 journal › Comment/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 journal › Review article

Open Access
File
Congenital Disorders of Glycosylation
Guidelines
Expert Testimony
Therapeutics
phosphomannomutase
1 Citation (Scopus)

Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review

Pascoal, C., Brasil, S., Francisco, R., Marques-Da-Silva, D., Rafalko, A., Jaeken, J., Videira, P. A., Barros, L. & Ferreira, V. D. R., 28 Nov 2018, In : Orphanet Journal of Rare Diseases. 13, 1, 215.

Research output: Contribution to journal › Review article

Open Access
Metabolic Diseases
Quality of Life
Patient Reported Outcome Measures
Proxy
Research