Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry – NEUROMUSCULAR DISORDERS

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; de Munain, AL; Jericó, I; Galán-Dávila, L; Pardo, J; Salgueiro-Origlia, G; Alonso-Pérez, J; Pla-Junca, F; Schiava, M; Segovia-Simón, S; Díaz-Manera, J – 2024 – 10.1016/j.nmd.2023.10.001