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Page 1
Late-onset thymidine kinase 2 deficiency: a review of 18 cases.
Domínguez-González C, Hernández-Laín A, Rivas E, Hernández-Voth A, Sayas Catalán J, Fernández-Torrón R, Fuiza-Luces C, García García J, Morís G, Olivé M, Miralles F, Díaz-Manera J, Caballero C, Méndez-Ferrer B, Martí R, García Arumi E, Badosa MC, Esteban J, Jimenez-Mallebrera C, Encinar AB, Arenas J, Hirano M, Martin MÁ, Paradas C. Domínguez-González C, et al. Among authors: miralles f. Orphanet J Rare Dis. 2019 May 6;14(1):100. doi: 10.1186/s13023-019-1071-z. Orphanet J Rare Dis. 2019. PMID: 31060578 Free PMC article.
Coexistence of a fluid responsive state and venous congestion signals in critically ill patients: a multicenter observational proof-of-concept study.
Muñoz F, Born P, Bruna M, Ulloa R, González C, Philp V, Mondaca R, Blanco JP, Valenzuela ED, Retamal J, Miralles F, Wendel-Garcia PD, Ospina-Tascón GA, Castro R, Rola P, Bakker J, Hernández G, Kattan E. Muñoz F, et al. Among authors: miralles f. Crit Care. 2024 Feb 19;28(1):52. doi: 10.1186/s13054-024-04834-1. Crit Care. 2024. PMID: 38374167 Free PMC article.
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Martinez-Marin RJ, Reyes-Leiva D, Nascimento A, Muelas N, Dominguez-González C, Paradas C, Olivé M, García-Romero M, Pascual-Pascual SI, Grau JM, Barba-Romero MA, Gomez-Caravaca MT, de Las Heras J, Casquero P, Mendoza MD, de León JC, Gutierrez A, Morís G, Blanco-Lago R, Ramos-Fransi A, Pintós G, García-Antelo MJ, Rabasa M, Morgado Y, Usón M, Miralles FJ, Bárcena-Llona JE, Gómez-Belda AB, Pedraza-Hueso MI, Hortelano M, Colomé A, Garcia-Martin G, Lopez de Munain A, Jericó I, Galán-Dávila L, Pardo J, Salgueiro-Origlia G, Alonso-Pérez J, Pla-Junca F, Schiava M, Segovia-Simón S, Díaz-Manera J. Martinez-Marin RJ, et al. Among authors: miralles fj. Neuromuscul Disord. 2024 Jan;34:1-8. doi: 10.1016/j.nmd.2023.10.001. Epub 2023 Nov 13. Neuromuscul Disord. 2024. PMID: 38087756
205 results