Hyposalivation, acidic saliva, decayed teeth and oral yeast prevalence in children with mucopolysaccharidosis

by Sara Ponciano, Cristina Areias, Elisa Leão-Teles, Benedita Sampaio-Maia

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

by Cláudia de Freitas, Mariana Amorim, Helena Machado, Elisa Leão Teles, Maria João Baptista
Published 2021-03-01

Rabdomiomas Cardíacos no Recém-Nascido: Um Caso Clínico

by Marília Loureiro, António Vieira, Alexandre Freitas, Conceição D'Orey, Elisa Leão Teles, José C. Areias
Published 2014-09-01

Increased Choroidal Thickness in Morquio Syndrome

by Augusto Magalhães, Rodrigo Vilares-Morgado, Ana Maria Cunha, Elisa Leão-Teles, Manuel Falcão, Ângela Carneiro, Fernando Falcão-Reis
Published 2021-09-01

Fundoscopic Changes in Maroteaux-Lamy Syndrome

by Augusto Magalhães, Jorge Meira, Ana Maria Cunha, Raul Jorge Moreira, Elisa Leão-Teles, Manuel Falcão, Jorge Breda, Fernando Falcão-Reis
Published 2019-01-01

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

by Augusto Magalhães, Ana Maria Cunha, Rodrigo Vilares-Morgado, Elisa Leão-Teles, Esmeralda Rodrigues, Manuel Falcão, Ângela Carneiro, Jorge Breda, Fernando Falcão-Reis
Published 2021-01-01

Role of RNA in Molecular Diagnosis of MADD Patients

by Célia Nogueira, Lisbeth Silva, Ana Marcão, Carmen Sousa, Helena Fonseca, Hugo Rocha, Teresa Campos, Elisa Leão Teles, Esmeralda Rodrigues, Patrícia Janeiro, Ana Gaspar, Laura Vilarinho
Published 2021-05-01

Suspecting classical homocystinuria in an adolescent born before the newborn screening program

by Fábia Ginja de Carvalho, Teresa Campos, Joana Soares dos Reis, Mariana Portela, Carla Vasconcelos, Carla Ferreira, Arnaldo Cerqueira, Ângela Oliveira, Laura Vilarinho, Elisa Leão-Teles, Esmeralda Rodrigues
Published 2021-04-01

Long-Term Galsulfase Treatment Associated With Improved Survival of Patients With Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)

by Adrian Quartel MD, Paul R. Harmatz MD, Christina Lampe MD, Nathalie Guffon MD, David Ketteridge MD, Elisa Leão-Teles MD, Simon A. Jones MD, Roberto Giugliani MD, PhD
Published 2018-01-01

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

by Marisa Encarnação, Maria Francisca Coutinho, Soo Min Cho, Maria Teresa Cardoso, Isaura Ribeiro, Paulo Chaves, Juliana Inês Santos, Dulce Quelhas, Lúcia Lacerda, Elisa Leão Teles, Anthony H. Futerman, Laura Vilarinho, Sandra Alves
Published 2020-11-01

SLC37A4‐CDG: Second patient

by Matthew P. Wilson, Dulce Quelhas, Elisa Leão‐Teles, Luisa Sturiale, Daisy Rymen, Liesbeth Keldermans, Valérie Race, Erika Souche, Esmeralda Rodrigues, Teresa Campos, Emile Van Schaftingen, François Foulquier, Domenico Garozzo, Gert Matthijs, Jaak Jaeken
Published 2021-03-01

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

by Catia S. Pereira, Catia S. Pereira, Begoña Pérez-Cabezas, Begoña Pérez-Cabezas, Helena Ribeiro, Helena Ribeiro, Helena Ribeiro, M. Luz Maia, M. Teresa Cardoso, Ana F. Dias, Olga Azevedo, M. Fatima Ferreira, Paula Garcia, Esmeralda Rodrigues, Paulo Castro-Chaves, Esmeralda Martins, Patricio Aguiar, Mercè Pineda, Yasmina Amraoui, Simona Fecarotta, Elisa Leão-Teles, Shenglou Deng, Paul B. Savage, M. Fatima Macedo, M. Fatima Macedo, M. Fatima Macedo
Published 2019-06-01