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Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Martinez-Marin, Rafael Jenaro; Reyes-Leiva, David; Nascimento, Andrés; Muelas, Nuria; Dominguez-González, C; Paradas, Carmen; Olivé, Montse; García-Romero, Mar; Pascual-Pascual, Samuel Ignacio; Grau, Josep Maria; Barba-Romero, Miguel Angel; Gomez-Caravaca, Maria Teresa; de Las Heras, Javier; Casquero, Pilar; Mendoza, Maria Dolores; de León, Juan Carlos; Gutierrez, Antonio; Morís, Germán; Blanco-Lago, Raquel; Ramos-Fransi, Alba; Pintós, Guillem; García-Antelo, Maria José; Rabasa, Maria; Morgado, Yolanda; Usón, Mercedes; Miralles, Francisco Javier; Bárcena-Llona, Jose Eulalio; Gómez-Belda, Ana Belén; Pedraza-Hueso, Maria Isabel; Hortelano, Miryam; Colomé, Antoni; Garcia-Martin, Guillermina; Lopez de Munain, Adolfo; Jericó, Ivonne; Galán-Dávila, Lucía; Pardo, Julio; Salgueiro-Origlia, Giorgina; Alonso-Pérez, Jorge; Pla-Junca, Francesc; Schiava, Marianela; Segovia-Simón, Sonia; Díaz-Manera, Jordi.
Affiliation
  • Martinez-Marin RJ; NeuService, Hospital La Paz Institute for Health Research - IdiPAZ (La Paz University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.
  • Reyes-Leiva D; Institut de Recerca Biomedica Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; CIBERER, Spain.
  • Nascimento A; Servicio de Neuropediatría, CIBERER, ERN-NMD, Hospital Sant Joan de Deu, Esplugues de Llobregat, Barcelona, Spain.
  • Muelas N; CIBERER, Spain; Neurology Service, Hospital La Fe de Valencia, Valencia, Spain.
  • Dominguez-González C; CIBERER, Spain; Neurology Service, Hospital 12 de Octubre, imas12 Research Institute, ERN-NMD, Madrid, Spain.
  • Paradas C; Neurology Service, Hospital Virgen del Rocío, Sevilla, Spain.
  • Olivé M; Institut de Recerca Biomedica Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; CIBERER, Spain; Neuromuscular Diseases Unit, Neurology Service, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
  • García-Romero M; Neuropaediatrics Service, Hospital Universitario La Paz, Madrid, Spain.
  • Pascual-Pascual SI; Neuropaediatrics Service, Hospital Universitario La Paz, Madrid, Spain.
  • Grau JM; Internal Medicine Service, Hospital Clínic de Barcelona, Barcelona, Spain.
  • Barba-Romero MA; Internal Medicine Service, Hospital Universitario General de Albacete, Albacete, Spain.
  • Gomez-Caravaca MT; Neurology Service, Hospital Reina Sofía de Córdoba, Córdoba, Spain.
  • de Las Heras J; Division of Pediatric Metabolism at Cruces University Hospital, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), Biocruces-Bizkaia Health Research Institute and University of the Basque Country (UPV/EH
  • Casquero P; Neurology Service, Hospital Mateu Orfila, Menorca, Spain.
  • Mendoza MD; Neurology Service, Hospital Dr Negrín, Gran Canaria, Spain.
  • de León JC; Neurology Service, Hospital Universitario Nuestra Señora de la Candelaria, Tenerife, Spain.
  • Gutierrez A; Neurology Service, Hospital Insular, Gran Canaria, Spain.
  • Morís G; Neurology Service, Hospital Universitario Central de Asturias, Oviedo, Spain.
  • Blanco-Lago R; Paediatrics Service, Hospital Universitario Central de Asturias, Oviedo, Spain.
  • Ramos-Fransi A; Neurology Service, Hospital Universitario Germans Trias i Pujol, Badalona, Spain.
  • Pintós G; Internal Medicine Service, Hospital Universitario Vall d'Hebron, Barcelona, Spain.
  • García-Antelo MJ; Neurology Service, Hospital Universitario de A Coruña, A Coruña, Spain.
  • Rabasa M; Neurology Service, Hospital Universitario de Fuenlabrada, Madrid, Spain.
  • Morgado Y; Neurology Service, Hospital de Valme, Sevilla, Spain.
  • Usón M; Neurology Service, Hospital Universitario Son Llatzer, Palma de Mallorca, Spain.
  • Miralles FJ; Neurology Service, Hospital Universitario Son Espases, Palma de Mallorca, Spain.
  • Bárcena-Llona JE; Neurology Service, Hospital Universitario de Cruces, Barakaldo, Spain.
  • Gómez-Belda AB; Servicio de Medicina Interna, Hospital Universitario Dr Peset, Valencia, Spain.
  • Pedraza-Hueso MI; Servicio de Neurología, Hospital Universitario de Valladolid, Valladolid, Spain.
  • Hortelano M; Paediatric Service, Hospital Universitario de Segovia, Segovia Spain.
  • Colomé A; Internal Medicine Service, Hospital de Terrassa, Barcelona, Spain.
  • Garcia-Martin G; Neurology Service, Hospital Regional Universitario Carlos Haya de Málaga.
  • Lopez de Munain A; Neurology Service, Instituto Biodonostia-CIBERNED-EHU-UPV, Hospital Universitario Donostia-OSAKIDETZA, Spain.
  • Jericó I; Neurology Service, Complejo Hospitalario de Navarra, Spain.
  • Galán-Dávila L; Neurology Service, Hospital Universitario Clínico San Carlos, Madrid, Spain.
  • Pardo J; Neurology Service, Hospital Universitario de Santiago de Compostela, Santiago de Compostela. Spain.
  • Salgueiro-Origlia G; Internal Medicine Service, Hospital La Paz Institute for Health Research - IdiPAZ (La Paz University Hospital, Universidad Autónoma de Madrid, Spain.
  • Alonso-Pérez J; Institut de Recerca Biomedica Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; CIBERER, Spain.
  • Pla-Junca F; Institut de Recerca Biomedica Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; CIBERER, Spain.
  • Schiava M; John Walton Muscular Distrophy Research Center, Newcastle University, UK.
  • Segovia-Simón S; Institut de Recerca Biomedica Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; CIBERER, Spain.
  • Díaz-Manera J; Institut de Recerca Biomedica Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; CIBERER, Spain; John Walton Muscular Distrophy Research Center, Newcastle University, UK. Electronic address: jordi.diaz-manera@newcastle.ac.uk.
Neuromuscul Disord ; 34: 1-8, 2024 Jan.
Article in En | MEDLINE | ID: mdl-38087756
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Glycogen Storage Disease Type II Limits: Humans Language: En Journal: Neuromuscul Disord Journal subject: NEUROLOGIA Year: 2024 Type: Article Affiliation country: Spain
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Glycogen Storage Disease Type II Limits: Humans Language: En Journal: Neuromuscul Disord Journal subject: NEUROLOGIA Year: 2024 Type: Article Affiliation country: Spain