Rare diseases

All Items

• Newborn screening in Spain: equity, clinical value and challenges in the context of technological expansion e202611093

  María de los Ángeles Erazo Pesántez, Domingo González-Lamuño

  14 páginas

  DOI: https://doi.org/10.67113/resp.v100i1.1744

• Predictive factors of survival in people with Cystic fibrosis from a Spanish registry of rare diseases e202508042

  Senay Rueda Nieto, Pedro Mondejar-Lopez, María-Pilar Mira-Escolano, Ana Cutillas-Tolín, Luis Alberto Maceda-Roldán, Julián Jesús Arense-Gonzalo, Joaquín A. Palomar-Rodríguez

  17 páginas

• Prevalence of Hereditary Hemorrhagic Telangiectasia: a population-based study in the Valencian region (Spain) e202311096

  Miriam de la Natividad Palomares, Laia Barrachina-Bonet, Laura García-Villodre, Sandra Guardiola-Vilarroig, Óscar Zurriaga Llorens, Clara Cavero-Carbonell

  11 páginas

• Prevalence and geographic distribution of the Wolf-Hirschhorn syndrome in Spain e202206045

  Raquel Blanco Lago, Xana Da Silva Mori , Cristina Bel Fenellós, Ignacio Málaga Diéguez, Mª de los Ángeles Mori Álvarez, Natalia Graña Barreiro, Pablo Lapunzina Badía, Julián Nevado Blanco

  13 páginas

• World Rare Disease Day e202202028

  Mª Dolores Perea Aceituno, Carla Alejandra Dueñas Cañas, Yolanda Agra Varela, Francesc Palau Martínez, Pilar Aparicio Azcárraga

  3 páginas

• Diagnostic delay in rare diseases: systematic review e202201001

  Minerva Berrocal-Acedo, Juan Benito-Lozano, Verónica Alonso-Ferreira, Ángel Vilches-Arenas

  16 páginas

• Surveillance of rare diseases in Spain: Spanish Registry of Rare Diseases (ReeR) e202111186

  Esther Vicente, Eva Ardanaz, Enrique Ramalle-Gómara, Luis J. Echevarría, M. Pilar Mira, Juan Pablo Chalco-Orrego, Consuelo Benito, Sandra Guardiola-Vilarroig, Cristina Mallol, José Manuel Guinaldo, Patricia Carrillo, Mercedes Cáffaro, M. Luisa Compés, M. Nieves Caro, Verónica Alonso, Pilar Soler, Grupo de Trabajo del Registro Estatal de Enfermedades Raras (GT-ReeR)

  18 páginas

• Prevalence of the Phelan-McDermid Syndrome in Spain e202012121

  Bárbara Gómez Taylor, Mari Luz Moreno Sancho, Eraci Drehmer Rieger, Sandra Carrera Juliá, Julián Nevado, Francisca Sempere Ferre

  8 páginas

• Results of the neonatal screening on Western Andalusia after a decade of experience e202012174

  Carmen Delgado-Pecellín, Ana Isabel Álvarez Ríos, María del Amor Bueno Delgado, Margarita María Jiménez Jambrina, María Esther Quintana Gallego, Pedro Ruiz Salas, Irene Marcos Luque, Enrique Melguizo Madrid, Isabel Delgado-Pecellin

  12 páginas

• Wilson disease: the look of medical staff, patients and family members e201904014

  Lucía Páramo Rodríguez, Óscar Zurriaga Llorens, Mª Eugenia González Sanjuán, Clara Cavero Carbonell

  11 páginas

• Implementing a population-based rare diseases registry in Spain: Navarre´s experience e201811082

  Esther Vicente, Marcela Guevara, María J. Lasanta, María A. Ramos-Arroyo, Eva Ardanaz

  13 páginas