Novel MTO1 mutations associated with an intrafamilial phenotypic variability by Catarina Maria Almeida, Esmeralda Rodrigues, Teresa Almeida Campos, Laura Vilarinho, Elisa Leão Teles

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Novel Fundoscopic Features in Mucopolysaccharidosis Type VI: Multimodal Evaluation of Scleral Deposits by Augusto Magalhães, Margarida Ribeiro, Jorge Meira, Ana Filipa Moleiro, Esmeralda Rodrigues, Elisa Leão-Teles

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Visual impairment in mucopolysaccharidosis VI by Augusto Monteiro Magalhães, Ana Filipa Moleiro, Esmeralda Rodrigues, Sérgio Castro, José Fonseca, Elisa Leão‐Teles

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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

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

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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

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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

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O08: Long-term efficacy and safety of pegzilarginase for arginase 1 deficiency: 2 years of experience in the phase 2 extension study* by Markey McNutt, George Diaz, Andreas Schulze, Gillian Bubb, Leslie Sloan, Elisa Leão-Teles, Spyros Batzios, Angela Sun, Allison Bannick, Roberto Zori, Gregory Enns

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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

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Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross‐sectional survey by Sara Olofsson, Sofia Löfvendahl, Julia Widén, Lena Jacobson, Peter Lindgren, Karolina M. Stepien, Jean‐Baptiste Arnoux, Maria Luz Couce Pico, Elisa Leão Teles, Mattias Rudebeck

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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

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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

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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

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

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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

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Brain function in classic galactosemia, a galactosemia network (GalNet) members review by Bianca Panis, Bianca Panis, Bianca Panis, E. Naomi Vos, E. Naomi Vos, E. Naomi Vos, E. Naomi Vos, E. Naomi Vos, Ivo Barić, Annet M. Bosch, Annet M. Bosch, Annet M. Bosch, Martijn C. G. J. Brouwers, Martijn C. G. J. Brouwers, Alberto Burlina, Alberto Burlina, David Cassiman, David J. Coman, María L. Couce, María L. Couce, Anibh M. Das, Anibh M. Das, Didem Demirbas, Aurélie Empain, Aurélie Empain, Matthias Gautschi, Olga Grafakou, Olga Grafakou, Stephanie Grunewald, Sandra D. K. Kingma, Sandra D. K. Kingma, Ina Knerr, Elisa Leão-Teles, Elisa Leão-Teles, Dorothea Möslinger, Dorothea Möslinger, Elaine Murphy, Katrin Õunap, Katrin Õunap, Adriana Pané, Adriana Pané, Sabrina Paci, Sabrina Paci, Rossella Parini, Rossella Parini, Isabel A. Rivera, Sabine Scholl-Bürgi, Ida V. D. Schwartz, Triantafyllia Sdogou, Triantafyllia Sdogou, Loai A. Shakerdi, Anastasia Skouma, Anastasia Skouma, Karolina M. Stepien, Eileen P. Treacy, Susan Waisbren, Gerard T. Berry, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo

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