Sandra Dolores Arduim Brasil

Researcher, DCV - Departamento de Ciências da Vida
Researcher, UCIBIO - Applied Molecular Biosciences Unit

Emailsd.brasil@fct.unl.pt

Source: Scopus
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45 Citations
3 h-Index
4 Review article
1 Comment/debate

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management
Altassan, R., Radenkovic, S., Edmondson, A. C., Barone, R., Brasil, S., Cechova, A., Coman, D., Donoghue, S., Falkenstein, K., Ferreira, V., Fiumara, A., Francisco, R., Freeze, H., Grunewald, S., Honzik, T., Jaeken, J., Krasnewich, D., Lam, C., Lee, J., Lefeber, D. & 15 others, Marques-da-Silva, D., Pascoal, C., Quelhas, D., Raymond, K. M., Rymen, D., Seroczynska, M., Serrano, M., Sykut-Cegielska, J., Thiel, C., Tort, F., Vals, M. A., Videira, P., Voermans, N., Witters, P. & Morava, E., 1 Jan 2021, In : Journal of Inherited Metabolic Disease. 44, 1, p. 148-163
Research output: Contribution to journal › Review article

Open Access
File
2 Citations (Scopus)

1 Downloads (Pure)
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
File
9 Citations (Scopus)

3 Downloads (Pure)
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
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
27 Citations (Scopus)

47 Downloads (Pure)
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
7 Citations (Scopus)

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management

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

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)

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

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