Zobrazeno 1 - 9
of 9
pro vyhledávání: '"POMPE study group"'
Autor:
Mónica López-Rodríguez, Miguel Angel Torralba-Cabeza, Iván Pérez de Pedro, Alberto Rivera, Roi Suarez Gil, Ana Gómez-Belda, Jose Luis Patier de la Peña, Alberto de los Santos Moreno, Albert Selva-O’Callaghan, Igor Gómez Gárate, Andrés González García, Roberto Hurtado, Pablo Tutor de Ureta, Miguel Ángel Barba-Romero, José C. Milisenda, Josep M. Grau-Junyent, POMPE study group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)
Abstract Background The screening of high-risk populations using dried blood spots (DBS) has allowed the rapid identification of patients with Pompe disease, mostly in Neurology departments. The aim of the study was to determine the prevalence of lat
Externí odkaz:
https://doaj.org/article/8aaa538b7b294b509d6b3b97e1ce7ac7
Autor:
Sebastián Figueroa-Bonaparte, Sonia Segovia, Jaume Llauger, Izaskun Belmonte, Irene Pedrosa, Aída Alejaldre, Mercè Mayos, Guillermo Suárez-Cuartín, Eduard Gallardo, Isabel Illa, Jordi Díaz-Manera, Spanish Pompe Study Group
Publikováno v:
PLoS ONE, Vol 11, Iss 10, p e0163493 (2016)
Enzyme replacement therapy has shown to be effective for childhood/adult onset Pompe disease (AOPD). The discovery of biomarkers useful for monitoring disease progression is one of the priority research topics in Pompe disease. Muscle MRI could be on
Externí odkaz:
https://doaj.org/article/3762bafc43bf4ff6a626b02cc829a18f
Autor:
D. Reyes-Leiva, A. Nascimento, N. Muelas, C. Domínguez-González, C. Paradas, M. Olivé, J. Grau, M. Barba-Romero, M. Gómez-Caravaca, J. Diaz-Manera, null S. Spanish Pompe Study Group
Publikováno v:
Neuromuscular Disorders. 31:S110
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::540be8c66d48c4692db085eb9f414fa1
https://doi.org/10.1016/j.nmd.2021.07.224
https://doi.org/10.1016/j.nmd.2021.07.224
Autor:
Reyes-Leiva, D., Nascimento, A., Muelas, N., Domínguez-González, C., Paradas, C., Olivé, M., Grau, J., Barba-Romero, M., Gómez-Caravaca, M., Diaz-Manera, J., S. Spanish Pompe Study Group
Publikováno v:
In Neuromuscular Disorders October 2021 31 Supplement 1:S110-S110
Autor:
C. Lefeuvre, F. Bouhour, A. Nadaj-Pakleza, S. Sacconi, E. Salort-Campana, G. Sole, C. Tard, M. De Antonio, N. Taouagh, D. Hamroun, P. Laforet, null French pompe study group
Publikováno v:
Neuromuscular Disorders. 29:S198
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::13dd1a6543ef3e88475ee78f53130d8a
https://doi.org/10.1016/j.nmd.2019.06.560
https://doi.org/10.1016/j.nmd.2019.06.560
Autor:
Semplicini, Claudio, Letard, Pascaline, De Antonio, Marie, Taouagh, Nadjib, Perniconi, Barbara, Bouhour, Françoise, Echaniz‐Laguna, Andoni, Orlikowski, David, Sacconi, Sabrina, Salort‐Campana, Emmanuelle, Solé, Guilhem, Zagnoli, Fabien, Hamroun, Dalil, Froissart, Roseline, Caillaud, Catherine, Laforêt, Pascal, French Pompe Study Group
Publikováno v:
Journal of Inherited Metabolic Disease; Dec2018, Vol. 41 Issue 6, p937-946, 10p
Autor:
J. Díaz-Manera, S. Figueroa, J. Llauger, I. Belmonte, S. Segovia, G. Suárez-Cuartin, M. Mayos, E. Gallardo, I. Illa, null S. Spanish Pompe Study Group
Publikováno v:
Journal of the Neurological Sciences. 357:e333
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dd1c1f07265069ff8e6aa78e227ed0a5
https://doi.org/10.1016/j.jns.2015.08.1187
https://doi.org/10.1016/j.jns.2015.08.1187
Autor:
Fernández-Simón, Esther, Carrasco-Rozas, Ana, Gallardo, Eduard, Figueroa-Bonaparte, Sebastián, Belmonte, Izaskun, Pedrosa, Irene, Montiel, Elena, Suárez-Calvet, Xavier, Alonso-Pérez, Jorge, Segovia, Sonia, Nuñez-Peralta, Claudia, Llauger, Jaume, Mayos, Mercedes, Illa, Isabel, Spanish Pompe Study Group, Díaz-Manera, Jordi
Publikováno v:
Scientific Reports; 2/14/2019, Vol. 9 Issue 1, p1-1, 1p
Autor:
Díaz-Manera, J.1, Figueroa, S.1, Llauger, J.2, Belmonte, I.3, Segovia, S.1, Suárez-Cuartin, G.4, Mayos, M.4, Gallardo, E.1, Illa, I.1, S. Spanish Pompe Study Group, null1
Publikováno v:
Journal of the Neurological Sciences. Oct2015 Supplement 1, Vol. 357, pe333-e333. 1p.