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

Rafael Jenaro Martinez-Marin, David Reyes‐Leiva, A. Nascimento, Nuria Muelas, Cristina Domínguez‐González, Carmen Paradas, Montse Olivé, Mar García-Romero, Samuel Ignacio Pascual Pascual, Josep M. Grau, Miguel Ángel Barba-Romero, María Teresa Gómez‐Caravaca, Javier de las Heras, Pilar Casquero, María Dolores Mendoza, Juan Carlos de León, Antonio Gutiérrez, Germán Morís, Raquel Blanco-Lago, Alba Ramos‐Fransí, Guillem Pintos‐Morell, Maria José García-Antelo, María Rabasa, Yolanda Blanco Morgado, Mercedes Usón, Francisco Javier Miralles, José Eulalio Bárcena, Ana Gómez-Belda, María Isabel Pedraza-Hueso, Miryam Hortelano, Antoni Colomé, Guillermina García Martín, Adolfo López de Munaín, Ivonne Jericó, Lucía Galán-Dávila, Julio Pardo, Giorgina Salgueiro-Origlia, Jorge Alonso‐Pérez, Francesc Pla‐Juncà, Marianela Schiava, Sonia Segovia‐Simón, Jordi Díaz‐Manera

2023Neuromuscular Disorders9 citationsDOI

Topics & Concepts

MedicineDiseaseEnzyme replacement therapyDemographicsClinical phenotypePediatricsWeaknessGlycogen storage disease type IIInternal medicineSurgeryPhenotypeDemographyGeneChemistrySociologyBiochemistryLysosomal Storage Disorders ResearchGlycogen Storage Diseases and MyoclonusCarbohydrate Chemistry and Synthesis
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry | Litcius