Visual impairment in mucopolysaccharidosis VI

por Magalhães, Augusto Monteiro, Moleiro, Ana Filipa, Rodrigues, Esmeralda, Castro, Sérgio, Fonseca, José, Leão‐Teles, Elisa
Publicado 2023

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

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

Increased Choroidal Thickness in Morquio Syndrome

por Magalhães, Augusto, Vilares-Morgado, Rodrigo, Cunha, Ana Maria, Leão-Teles, Elisa, Falcão, Manuel, Carneiro, Ângela, Falcão-Reis, Fernando
Publicado 2021

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

por de Freitas, Cláudia, Amorim, Mariana, Machado, Helena, Leão Teles, Elisa, Baptista, Maria João, Renedo, Alicia, Provoost, Veerle, Silva, Susana
Publicado 2021

Fundoscopic Changes in Maroteaux-Lamy Syndrome

por Magalhães, Augusto, Meira, Jorge, Cunha, Ana Maria, Moreira, Raul Jorge, Leão-Teles, Elisa, Falcão, Manuel, Breda, Jorge, Falcão-Reis, Fernando
Publicado 2019

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

por Magalhães, Augusto, Cunha, Ana Maria, Vilares-Morgado, Rodrigo, Leão-Teles, Elisa, Rodrigues, Esmeralda, Falcão, Manuel, Carneiro, Ângela, Breda, Jorge, Falcão-Reis, Fernando
Publicado 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

por 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
Publicado 2020

SLC37A4‐CDG: Second patient

por 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
Publicado 2021

Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency

por Diaz, George A., Schulze, Andreas, McNutt, Markey C., Leão‐Teles, Elisa, Merritt, J. Lawrence, Enns, Gregory M., Batzios, Spyros, Bannick, Allison, Zori, Roberto T., Sloan, Leslie S., Potts, Susan L., Bubb, Gillian, Quinn, Anthony G.
Publicado 2021

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

por 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
Publicado 2013

Leukocyte Imbalances in Mucopolysaccharidoses Patients

por Lopes, Nuno, Maia, Maria L., Pereira, Cátia S., Mondragão-Rodrigues, Inês, Martins, Esmeralda, Ribeiro, Rosa, Gaspar, Ana, Aguiar, Patrício, Garcia, Paula, Cardoso, Maria Teresa, Rodrigues, Esmeralda, Leão-Teles, Elisa, Giugliani, Roberto, Coutinho, Maria F., Alves, Sandra, Macedo, M. Fátima
Publicado 2023

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

por 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
Publicado 2019

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

por 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
Publicado 2011