Publication
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
Rafael Jenaro Martinez-Marin, David Reyes-Leiva, Andrés Nascimento, Nuria Muelas, C. Dominguez-González, Carmen Paradas, Montse Olivé, Mar García-Romero, Samuel Ignacio Pascual-Pascual, Josep Maria Grau, Miguel Angel Barba-Romero, Maria Teresa Gomez-Caravaca, Javier de las Heras, Pilar Casquero, Maria Dolores Mendoza, Juan Carlos de León, Antonio Gutierrez, Germán Morís, Raquel Blanco-Lago, Alba Ramos-Fransi, Guillem Pintós, Maria José García-Antelo, Maria Rabasa, Yolanda Morgado, Mercedes Usón, Francisco Javier Miralles, Jose Eulalio Bárcena-Llona, Ana Belén Gómez-Belda, Maria Isabel Pedraza-Hueso, Miryam Hortelano, Antoni Colomé, Guillermina Garcia-Martin, Adolfo Lopez de Munain, Ivonne Jericó, Lucía Galán-Dávila, Julio Pardo, Giorgina Salgueiro-Origlia, Jorge Alonso-Pérez, Francesc Pla-Junca, Marianela Schiava, Sonia Segovia-Simón, Jordi Díaz-Manera
Neuromuscular Disorders, January 2024, Elsevier
DOI: 10.1016/j.nmd.2023.10.001