Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Elisa Leao Teles"'
Autor:
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
Publikováno v:
JIMD Reports, Vol 65, Iss 6, Pp 450-460 (2024)
Abstract Arginase 1 deficiency (ARG1‐D) is an ultrarare, metabolic disease which may cause spastic paraplegia, cognitive deficiency, seizures, and ultimately severe disability. The aim of this study was to assess disease burden in ARG1‐D by perfo
Externí odkaz:
https://doaj.org/article/75e89c23a1d74a5e915f5192fa93b4ec
Autor:
Georg F. Vogel, Yael Mozer-Glassberg, Yuval E. Landau, Lea D. Schlieben, Holger Prokisch, René G. Feichtinger, Johannes A. Mayr, Heiko Brennenstuhl, Julian Schröter, Agnes Pechlaner, Fowzan S. Alkuraya, Joshua J. Baker, Giulia Barcia, Ivo Baric, Nancy Braverman, Birute Burnyte, John Christodoulou, Elzbieta Ciara, David Coman, Anibh M. Das, Niklas Darin, Adela Della Marina, Felix Distelmaier, Erik A. Eklund, Melike Ersoy, Weiyan Fang, Pauline Gaignard, Rebecca D. Ganetzky, Emmanuel Gonzales, Caoimhe Howard, Joanne Hughes, Vassiliki Konstantopoulou, Melis Kose, Marina Kerr, Aneal Khan, Dominic Lenz, Robert McFarland, Merav Gil Margolis, Kevin Morrison, Thomas Müller, Kei Murayama, Emanuele Nicastro, Alessandra Pennisi, Heidi Peters, Dorota Piekutowska-Abramczuk, Agnès Rötig, René Santer, Fernando Scaglia, Manuel Schiff, Mohmmad Shagrani, Mark Sharrard, Claudia Soler-Alfonso, Christian Staufner, Imogen Storey, Michael Stormon, Robert W. Taylor, David R. Thorburn, Elisa Leao Teles, Jian-She Wang, Daniel Weghuber, Saskia Wortmann
Publikováno v:
Genetics in Medicine, 25, 6
Genet. Med., 100314 (2022)
Genetics in Medicine, 25
Genet. Med., 100314 (2022)
Genetics in Medicine, 25
Purpose: The study aimed to define the genotypic and phenotypic spectrum of reversible acute liver failure (ALF) of infancy resulting from biallelic pathogenic TRMU variants and to determine the role of cysteine supplementation in its treatment. Meth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34d2d162b7b4a0245f739ac55e7b742a
https://doi.org/10.1016/j.gim.2022.09.015
https://doi.org/10.1016/j.gim.2022.09.015
Autor:
Heard, Jean-Michel, Vrinten, Charlotte, Schlander, Michael, Bellettato, Cinzia Maria, van Lingen, Corine, Scarpa, Maurizio, Gert, Matthijs, Marie-Cécile, Nassogne, François-Guillaume, Debray, Dominique, Roland, Teodora, Chamova, Viktor, Kozich, Jesina, Pavel, Martin, Zenker, Christina, Lampe, Anihb Martin Das, Julia, Hennermann, Stefan, Kölker, Natalie, Weinhold, Klaus, Mohnike, Sarah, Gruenert, Allan Meldgaard Lund, Montserrat, Morales-Conejo, Mireia Del Toro-Riera, Luis, Aldámiz-Echevarría, Maria-Teresa, Garcia-Silva, Manuel, Schiff, Laurent, Gouya, Pascale de Lonlay, Nadia, Belmatoug, Dominique, P Germain, Aline, Cano, Dries, Dobbelaere, Simon, Jones, Charlotte, Dawson, Patrick, Deegan, Saikat, Santra, Suresh, Vijay, Danijela Petkovic Ramadza, Ivo, Barić, Tamara, Žigman, György, Pflieger, Katalin, Szakszon, Rita, Kaposta, Serena, Gasperini, Alberto, Burlina, Giancarlo, Parenti, Pietro, Strisciuglio, Giovanni, Ceccarini, Antonio, Federico, Simonati, Alessandro, Birute, Tumiene, Hidde, Huidekoper, Francian van Spronsen, Annet, Bosch, Maria-Estela, Rubio-Gozalbo, Gepke, Visser, Trine, Tangeraas, Aasne, Aarsand, Beata, Kieć-Wilk, Ana-Maria Simões Mendes Gaspar, Dulce, Quelhas, Elisa, Leao-Teles, Olga, Azevedo, Esmeralda-Maria Ferreira Rodriges Silva, Luísa-Maria de Abreu Freire Diogo Matos, Esmeralda, Martins, Svetlana, Lajic, Niklas, Darin, Urh, Groselj, Mojca-Zerjav, Tansek
Publikováno v:
Orphanet journal of rare diseases, London : BMC, 2020, vol. 15, no. 1, art. no. 3, p. [1-7]
Orphanet journal of rare diseases, Vol. 15, no. 1, p. 3 [1-10] (2020)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Orphanet Journal of Rare Diseases, 15(1):3. BioMed Central Ltd.
Orphanet Journal of Rare Diseases, 15(1):3. BioMed Central Ltd
Orphanet journal of rare diseases, 15(1):3. BioMed Central
Orphanet journal of rare diseases, Vol. 15, no. 1, p. 3 [1-10] (2020)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Orphanet Journal of Rare Diseases, 15(1):3. BioMed Central Ltd.
Orphanet Journal of Rare Diseases, 15(1):3. BioMed Central Ltd
Orphanet journal of rare diseases, 15(1):3. BioMed Central
Background The European Medicine Agency granted marketing approval to 164 orphan medicinal products for rare diseases, among which 28 products intended for the treatment of hereditary metabolic diseases. Taking advantage of its privileged connection
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4bc53a73c6dd8801f1b116f34a52535
https://doi.org/10.1186/s13023-019-1280-5
https://doi.org/10.1186/s13023-019-1280-5
Autor:
Catarina Maria Almeida, Esmeralda Rodrigues, Teresa Almeida Campos, Laura Vilarinho, Elisa Leão Teles
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-4 (2023)
Abstract Background Mitochondrial diseases are a group of rare inborn metabolic disorders with multi-systemic manifestations. MTO1 gene mutations are associated with MTO1 (Mitochondrial tRNA Translation Optimization 1) protein deficiency, a mitochond
Externí odkaz:
https://doaj.org/article/523b6cb7a83a4ea8afe344e06b693799
Autor:
Susana Silva, Alicia Renedo, Cláudia de Freitas, Mariana Amorim, Helena Machado, Elisa Leão Teles, Maria João Baptista, Veerle Provoost
Publikováno v:
BMJ Open, Vol 11, Iss 3 (2021)
Introduction International policy imperatives for the public and patient involvement in the governance of health data coexist with conflicting cross-border policies on data sharing. This can challenge the planning and implementation of participatory
Externí odkaz:
https://doaj.org/article/421bffa99b3f448ca06b29738e775f25
Autor:
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
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Abstract Background Niemann‐Pick type C (NPC, MIM #257220) is a neuro‐visceral disease, caused predominantly by pathogenic variants in the NPC1 gene. Here we studied patients with clinical diagnosis of NPC but inconclusive results regarding the m
Externí odkaz:
https://doaj.org/article/94b35b0b1b8f48929d868f4bd5b5b6dd
Autor:
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
Publikováno v:
Biomedicines, Vol 9, Iss 5, p 507 (2021)
The electron-transfer flavoprotein dehydrogenase gene (ETFDH) encodes the ETF-ubiquinone oxidoreductase (ETF-QO) and has been reported to be the major cause of multiple acyl-CoA dehydrogenase deficiency (MADD). In this study, we present the clinical
Externí odkaz:
https://doaj.org/article/5413a5e5c00446beb3e61b8dcfa00b37