De Barsy syndrome and ATP6V0A2-CDG

Autor Leao-Teles, Elisa, Quelhas, Dulce, Vilarinho, Laura, Jaeken, Jaak
Vydáno 2010

Golgi function and dysfunction in the first COG4-deficient CDG type II patient

Autor Reynders, Ellen, Foulquier, François, Leão Teles, Elisa, Quelhas, Dulce, Morelle, Willy, Rabouille, Cathérine, Annaert, Wim, Matthijs, Gert
Vydáno 2009

Public and patient involvement in health data governance (DATAGov): protocol of a people-centred, mixed-methods study on data use and sharing for rare diseases care and research

Autor de Freitas, Cláudia, Amorim, Mariana, Machado, Helena, Leão Teles, Elisa, Baptista, Maria João, Renedo, Alicia, Provoost, Veerle, Silva, Susana
Vydáno v BMJ Open (2021)

Fundoscopic Changes in Maroteaux-Lamy Syndrome

Autor Magalhães, Augusto, Meira, Jorge, Cunha, Ana Maria, Moreira, Raul Jorge, Leão-Teles, Elisa, Falcão, Manuel, Breda, Jorge, Falcão-Reis, Fernando
Vydáno v Case Rep Ophthalmol Med (2019)

Macular Changes in a Mucopolysaccharidosis Type I Patient with Earlier Systemic Therapies

Autor Magalhães, Augusto, Cunha, Ana Maria, Vilares-Morgado, Rodrigo, Leão-Teles, Elisa, Rodrigues, Esmeralda, Falcão, Manuel, Carneiro, Ângela, Breda, Jorge, Falcão-Reis, Fernando
Vydáno v Case Rep Ophthalmol Med (2021)

NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann‐Pick type C patient

Autor Encarnação, Marisa, Coutinho, Maria Francisca, Cho, Soo Min, Cardoso, Maria Teresa, Ribeiro, Isaura, Chaves, Paulo, Santos, Juliana Inês, Quelhas, Dulce, Lacerda, Lúcia, Leão Teles, Elisa, Futerman, Anthony H., Vilarinho, Laura, Alves, Sandra
Vydáno v Mol Genet Genomic Med (2020)

SLC37A4‐CDG: Second patient

Autor Wilson, Matthew P., Quelhas, Dulce, Leão‐Teles, Elisa, Sturiale, Luisa, Rymen, Daisy, Keldermans, Liesbeth, Race, Valérie, Souche, Erika, Rodrigues, Esmeralda, Campos, Teresa, Van Schaftingen, Emile, Foulquier, François, Garozzo, Domenico, Matthijs, Gert, Jaeken, Jaak
Vydáno v JIMD Rep (2021)

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency

Autor Couce, Maria Luz, Sánchez-Pintos, Paula, Diogo, Luisa, Leão-Teles, Elisa, Martins, Esmeralda, Santos, Helena, Bueno, Maria Amor, Delgado-Pecellín, Carmen, Castiñeiras, Daisy E, Cocho, José A, García-Villoria, Judit, Ribes, Antonia, Fraga, José M, Rocha, Hugo
Vydáno 2013

Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients

Autor Pereira, Catia S., Pérez-Cabezas, Begoña, Ribeiro, Helena, Maia, M. Luz, Cardoso, M. Teresa, Dias, Ana F., Azevedo, Olga, Ferreira, M. Fatima, Garcia, Paula, Rodrigues, Esmeralda, Castro-Chaves, Paulo, Martins, Esmeralda, Aguiar, Patricio, Pineda, Mercè, Amraoui, Yasmina, Fecarotta, Simona, Leão-Teles, Elisa, Deng, Shenglou, Savage, Paul B., Macedo, M. Fatima
Vydáno v Front Immunol (2019)

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Autor Scarpa, Maurizio, Almássy, Zsuzsanna, Beck, Michael, Bodamer, Olaf, Bruce, Iain A, De Meirleir, Linda, Guffon, Nathalie, Guillén-Navarro, Encarna, Hensman, Pauline, Jones, Simon, Kamin, Wolfgang, Kampmann, Christoph, Lampe, Christina, Lavery, Christine A, Leão Teles, Elisa, Link, Bianca, Lund, Allan M, Malm, Gunilla, Pitz, Susanne, Rothera, Michael, Stewart, Catherine, Tylki-Szymańska, Anna, van der Ploeg, Ans, Walker, Robert, Zeman, Jiri, Wraith, James E
Vydáno 2011