Artificial Intelligence (AI) in Rare Diseases: Is the Future Brighter?

von Brasil, Sandra, Pascoal, Carlota, Francisco, Rita, dos Reis Ferreira, Vanessa, A. Videira, Paula, Valadão, Gonçalo
Veröffentlicht in Genes (Basel) (2019)

Artificial Intelligence in Epigenetic Studies: Shedding Light on Rare Diseases

von Brasil, Sandra, Neves, Cátia José, Rijoff, Tatiana, Falcão, Marta, Valadão, Gonçalo, Videira, Paula A., dos Reis Ferreira, Vanessa
Veröffentlicht in Front Mol Biosci (2021)

Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type

von Jorge-Finnigan, Ana, Brasil, Sandra, Underhaug, Jarl, Ruíz-Sala, Pedro, Merinero, Begoña, Banerjee, Ruma, Desviat, Lourdes R., Ugarte, Magdalena, Martinez, Aurora, Pérez, Belén
Veröffentlicht 2013

CDG Therapies: From Bench to Bedside

von Brasil, Sandra, Pascoal, Carlota, Francisco, Rita, Marques-da-Silva, Dorinda, Andreotti, Giuseppina, Videira, Paula A., Morava, Eva, Jaeken, Jaak, dos Reis Ferreira, Vanessa
Veröffentlicht in Int J Mol Sci (2018)

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

von Pascoal, Carlota, Brasil, Sandra, Francisco, Rita, Marques-da-Silva, Dorinda, Rafalko, Agnes, Jaeken, Jaak, Videira, Paula A., Barros, Luísa, dos Reis Ferreira, Vanessa
Veröffentlicht in Orphanet J Rare Dis (2018)

New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach

von Francisco, Rita, Pascoal, Carlota, Marques-da-Silva, Dorinda, Brasil, Sandra, Pimentel-Santos, Fernando M., Altassan, Ruqaiah, Jaeken, Jaak, Grosso, Ana Rita, dos Reis Ferreira, Vanessa, Videira, Paula A.
Veröffentlicht in J Clin Med (2020)

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

von Brasil, Sandra, Leal, Fátima, Vega, Ana, Navarrete, Rosa, Ecay, María Jesús, Desviat, Lourdes R., Riera, Casandra, Padilla, Natàlia, de la Cruz, Xavier, Couce, Mari Luz, Martin-Hernández, Elena, Morais, Ana, Pedrón, Consuelo, Peña-Quintana, Luis, Rigoldi, Miriam, Specola, Norma, de Almeida, Isabel Tavares, Vives, Inmaculada, Yahyaoui, Raquel, Rodríguez-Pombo, Pilar, Ugarte, Magdalena, Pérez-Cerda, Celia, Merinero, Begoña, Pérez, Belén
Veröffentlicht in Orphanet J Rare Dis (2018)

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

von Altassan, Ruqaiah, Radenkovic, Silvia, Edmondson, Andrew C., Barone, Rita, Brasil, Sandra, Cechova, Anna, Coman, David, Donoghue, Sarah, Falkenstein, Kristina, Ferreira, Vanessa, Ferreira, Carlos, Fiumara, Agata, Francisco, Rita, Freeze, Hudson, Grunewald, Stephanie, Honzik, Tomas, Jaeken, Jaak, Krasnewich, Donna, Lam, Christina, Lee, Joy, Lefeber, Dirk, Marques-da-Silva, Dorinda, Pascoal, Carlota, Quelhas, Dulce, Raymond, Kimiyo M., Rymen, Daisy, Seroczynska, Malgorzata, Serrano, Mercedes, Sykut-Cegielska, Jolanta, Thiel, Christian, Tort, Frederic, Vals, Mari-Anne, Videira, Paula, Voermans, Nicol, Witters, Peter, Morava, Eva
Veröffentlicht in J Inherit Metab Dis (2020)