Repositorio Dspace

Listar por autor "Quijada-Fraile, Pilar"

Listar por autor "Quijada-Fraile, Pilar"

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  • Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience 
    Quijada-Fraile, Pilar; Arranz-Canales, Elena; Martín-Hernández, Elena; Ballesta-Martínez, María-Juliana; Guillén-Navarro, Encarna; Pintos-Morell, Guillem; Molto-Abad, Marc; Moreno-Martínez, David; García-Morillo, Salvador; Blasco-Alonso, Javier; Luz-Couce, María; Gil-Sánchez, Ricardo; Cortes-Saladelafont, Elisenda; López-Rodríguez, Mónica-A; García-Silva, María-Teresa; Morales-Conejo, Montserrat (BMC, 2021-11)
    BACKGROUND: Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is a progressive and disabling disease characterized by a deficiency of the enzyme N-acetylgalactosamine-6-sulphate sulphatase. Its clinical presentation ...
  • Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis 
    Ko?ich, Viktor; Sokolová, Jitka; Morris, Andrew-A; Pavlíková, Markéta; Gleich, Florian; Kölker, Stefan; Krijt, Jakub; Dionisi-Vici, Carlo; Baumgartner, Matthias-R; Blom, Henk-J; Huemer, Martina; Aldámiz-Echevarría, Luis; Rezende-Arantes, Rodrigo-Rezende; Arrieta, Francisco; Blasco-Alonso, Javier; Brouwers, Martijn; Brunner-Krainz, Michaela; Bueno, María; Burgos-Peláez, Rosa; Cano, Aline; Couce, María-Luz; Crushell, Ellen; Ficicioglu, Can; Forny, Patrick; García-Jiménez, María-Concepción; Gaspar, Ana; González-Lamuño-Leguina, Domingo; Chapman, Kimberly-A; Chien, Yin-Hsiu; Janssen, Mirian-CH; Je?ina, Pavel; Lachmann, Robin; Lavigne, Christian; Lund, Allan-M; Lüsebrink, Natalia; Maillot, Francois; Martins, Ana-María; Meavilla-Olivas, Silvia; Mention, Karine; Mochel, Fanny; Monavari, Ahmad; Moreira, Sonia; Araujo-Moreno, Carolina; Muacevic-Katanec, Diana; Mundy, Helen; Murphy, Elaine; Olivieri, Giorgia; Paquay, Stéphanie; Pedrón-Giner, Consuelo; Peña-Quintana, Luis; Porras-Hurtado, Gloria-Liliana; Quijada-Fraile, Pilar; Redonnet-Vernhet, Isabelle; Rennings, Alexander-JM; Ruiz-Pons, Mónica; Santra, Saikat; Servais, Aude; Schiaffino, María-Cristina; Schiff, Manuel; Schwahn, Bernd-C; Schwartz, Ida-VD; Sremba, Leighann-J; Stainforth, Collette; Stepien, Karolina-M; Sykut-Cegielska, Jolanta; Terry, Allyson; Tran, Christel; Vitoria-Miñana, Isidro; Vives-Piñera, Inmaculada; Williams, Monique; Zeman, Jirí; Zielonka, Matthias (John Wiley and Sons Inc, 2021)
    Cystathionine ?-synthase (CBS) deficiency has a wide clinical spectrum, ranging from neurodevelopmental problems, lens dislocation and marfanoid features in early childhood to adult onset disease with predominantly ...
  • The genetic landscape of mitochondrial diseases in spain: A nationwide call 
    Bellusci, Marcello; Paredes-Fuentes, Abraham-J; Ruiz-Pesini, Eduardo; Gómez, Beatriz; Martín, Miguel-A; Montoya, Julio; Artuch, Rafael; Ribes, Antonia; Tort, Frederic; García-Villoria, Judith; Pajares, Sonia; Muñoz-Pujol, Gerard; Gort, Laura; Ugarteburu, Olatz; Valls-Roca, Laura; Cantó-Santos, Judith; García-García, Josep; Tobías, Esther; Deudero, Aida; Moreno, Pedro-Juan; Milisenda, José-César; Garrabou, Glòria; Grau, Josep-María; Cardellach, Francesc; Del-Castillo, Ignacio; Morín-Rodríguez, Matías; Domínguez-Ruiz, María; Moreno-Pelayo, Miguel-Ángel; Ayuso, Carmen; Villaverde-Montero, Cristina; Avila-Fernández, Almudena; Lorda-Sánchez, Isabel; Swafiri, Saoud; Rodríguez-Pombo, Pilar; Pérez, Belén; Navarrete, Rosa; López-Gallardo, Ester; Emperador, Sonia; Pacheu-Grau, David; Bayona-Bafaluy, M-Pilar; Arenas, Joaquín; Blázquez, Alberto; Domínguez-González, Cristina; Morales-Conejo, Montserrat; García-Silva, María-T; Martín-Hernández, Elena; Quijada-Fraile, Pilar; Camacho-Salas, Ana; Nuñez-Enamorado, Noemí; Martínez-Azorín, Francisco; García-Campos, Oscar; Navas, Plácido; Santos-Ocaña, Carlos; Schlüter, Agatha; Ruiz, Montserrat; Pujol, Aurora; Oancea-Ionescu, Raluca; Horga, Alejandro; Galán, Lucía; Guerrero, Antonio; Fenollar-Cortés, María; Cotarelo-Pérez, Carmen; Herrero-Forte, Clara; Gómez-Serrano, Manuel; Ley-Martos, Myriam; Gutiérrez-Moro, Carmen; Lubián-Gutiérrez, Manuel; Aguilera-Albesa, Sergio; Jericó-Pascual, Ivonne; Aznal-Sainz, Elena; Gil-Campos, Mercedes; López-Laso, Eduardo; Fuentes-Pita, Patricia; Couce, María-L; Esteban-Cardeñosa, Eva; Caamaño, Pilar; Cadiñanos, Juan; Diñeiro, Marta; Palacin-Larroy, Marta; Espejo-López, Francisco; Fernández-Burriel, Miguel; Muñoz-Cabello, Beatriz; Zúñiga, Ángel; Vitoria, Isidro; Martínez, Francisco; Millán, José-M; Correcher, Patricia; Muelas, Nuria; Vilchez, Juan-J; Sevilla, Teresa; Tomas-Vila, Miquel; Orellana, Carmen; Nieves-Moreno, María; Noval, Susana; Vallespin, Elena; Campos-Barros, Ángel; Ceán-Cabrera, Lourdes; Ibáñez-Micó, Salvador; Guillén-Navarro, Encarna; López-González, Vanesa; Ballesta-Martínez, Juliana; Marcos-Toledano, María-M; Cortès-Saladelafont, Elisenda; Giménez-Muñoz, Álvaro; Yubero, Delia; Nascimento, A; García-Cazorla, Ángels; O'Callaghan, María-del-Mar; Dario-Ortigoza, Juan-D; Montero, Raquel; Jou, Cristina; Jiménez-Mallebrera, Cecilia; Palau, Francesc; Pineda, Merce; Yahyaoui, Raquel; Benito, Carmen; Vázquez-López, María; Barredo-Valderrama, Estíbaliz; Bernardino-Cuesta, Beatriz; González-Gutiérrez-Solana, Luis; Moris, Germán; Almeida-Velasco, Javier; López-de-Heredia, Miguel; Segovia, Sonia; Pla-Junca, Francesc; Urreizti, Roser; Díaz-de-Bustamante, Aranzazu; Darnaude, M-Teresa; García-Arumi, Elena; Marti, Ramón; Rovira-Moreno, Eulàlia; Juntas-Morales, Raúl; Del-Toro, Mireia; Pérez-Dueñas, Belén; Munell, Francina; De-las-Heras, Javier; Ceberio-Hualde, Leticia; Unceta-Suárez, María; Marti, Itxaso; Fernández-Marmiesse, Ana; Medina-Martínez, Inmaculada; García-García, Jorge; León-Hernández, Juan-Carlos; Ruiz-Gómez, Ángeles; De-Azua-Brea, Begoña; Olivé, Monstse; Diaz-Manera, Jordi; Gallardo, Eduard (Multidisciplinary Digital Publishing Institute (MDPI), 2021)
    The frequency of mitochondrial diseases (MD) has been scarcely documented, and only a few studies have reported data in certain specific geographical areas. In this study, we arranged a nationwide call in Spain to obtain ...