Research output per year
Research output per year
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Dive into the research topics where Sandra Dolores Arduim Brasil is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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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, , 1 Jan 2021, In: Journal of Inherited Metabolic Disease. 44, 1, p. 148-163Research output: Contribution to journal › Review article › peer-review
Open AccessFile4 Citations (Scopus)1 Downloads (Pure) -
New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach
Francisco, R., Pascoal, C., Marques-da-Silva, D., Brasil, S., Pimentel-Santos, F. M., Altassan, R., Jaeken, J., Grosso, A. R., Dos Reis Ferreira, V. & Videira, P. A., 3 Jul 2020, In: Journal of Clinical Medicine. 9, 7, 2092.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
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 › peer-review
Open AccessFile12 Citations (Scopus)5 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, , 1 May 2019, In: Journal of Inherited Metabolic Disease. 42, 3, 1 p.Research output: Contribution to journal › Comment/debate › peer-review
1 Citation (Scopus) -
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, , 1 Jan 2019, In: Journal of Inherited Metabolic Disease. 42, 1, p. 5-28 24 p.Research output: Contribution to journal › Review article › peer-review
Open AccessFile29 Citations (Scopus)73 Downloads (Pure)