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Repositorio Institucional en Ciencias de la Salud de la Región Murcia: Envíos recientes

  • Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study 
    Maghnie, Mohamad; Semler, Oliver; Guillén-Navarro, Encarna; Selicorni, Angelo; Heath, Karen-E; Haeusler, Gabriele; Hagenaes, Lars; Merker, Andrea; Leiva-Gea, Antonio; López-González, Vanesa; Raimann, Adalbert; Rehberg, Mirko; Santos-Simarro, Fernando; Ertl, Diana-Alexandra; Gregersen, Pernille-Axel; Onesimo, Roberta; Landfeldt, Erik; Jarrett, James; Quinn, Jennifer; Rowell, Richard; Pimenta, Jeanne; Cohen, Shelda; Butt, Thomas; Shediac, Renee; Mukherjee, Swati; Mohnike, Klaus (BMC, 2023-03)
    BACKGROUND: Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene, is the most common skeletal dysplasia. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) ...
  • The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants 
    Sánchez, Rosario; Ripoll-Vera, Tomás; López-Mendoza, Manuel; de-Juan-Ribera, Joaquin; Gimeno, Juan-Ramon; Hermida, Alvaro; Ruz-Zafra, María-Aurora; Torregrosa, José-Vicente; Mora, Antonia; García-Pinilla, José-Manuel; Fortuny, Elena; Aguinaga-Barrilero, Ana; Torra, Roser (BMC, 2023-01-09)
    BACKGROUND: Fabry disease (FD) is an X-linked condition caused by variants in the GLA gene. Since females have two X chromosomes, they were historically thought to be carriers. Although increased knowledge has shown that ...
  • Orthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic review 
    Cerezo-Cayuelas, Marina; Pérez-Silva, Amparo; Serna-Munoz, Clara; Vicente, Ascension; Martínez-Beneyto, Yolanda; Cabello-Malagon, Inmaculada; José-Ortiz-Ruiz, Antonio (BMC, 2022-10)
    OBJECTIVE: The objective of this systematic review was to determine the orthodontic and dentofacial orthopedic treatments carried out in patients with ectodermal dysplasia to facilitate functional and aesthetic rehabilitation. ...
  • Optimising care and follow-up of adults with achondroplasia 
    Fredwall, Svein; Allum, Yana; AlSayed, Moeenaldeen; Alves, Ines; Ben-Omran, Tawfeg; Boero, Silvio; Cormier-Daire, Valerie; Guillén-Navarro, Encarna; Irving, Melita; Lampe, Christian; Maghnie, Mohamad; Mohnike, Klaus; Mortier, Geert; Sousa, Sergio-B; Wright, Michael (BMC, 2022-08-20)
    BACKGROUND: Achondroplasia is a genetic condition that can cause complications across the lifespan. While complications in childhood are well documented, the natural history of achondroplasia in adults has, until recently, ...
  • Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations 
    Cormier-Daire, Valerie; AlSayed, Moeenaldeen; Alves, Ines; Bengoa, Joana; Ben-Omran, Tawfeg; Boero, Silvio; Fredwall, Svein; Garel, Catherine; Guillén-Navarro, Encarna; Irving, Melita; Lampe, Christian; Maghnie, Mohamad; Mortier, Geert; Sousa, Sergio-B; Mohnike, Klaus (BMC, 2022-07)
    BACKGROUND: Achondroplasia is the most common form of skeletal dysplasia, with serious comorbidities and complications that may occur from early infancy to adulthood, requiring lifelong management from a multidisciplinary ...
  • Health-related quality of life of X-linked hypophosphatemia in Spain 
    Luis-Yanes, M, I; Diaz-Curiel, M; Peris, P; Vicente, C; Marin, S; Ramon-Krauel, M; Hernández, J; Broseta, JJ; Espinosa, L; Mendizabal, S; Pérez-Sukia, L; Martínez, V; Palazon, C; Pinero, JA; Calleja, MA; Espin, J; Arborio-Pinel, R; Ariceta, G (BMC, 2022-07)
    BACKGROUND: Health-related quality of life (HRQoL) of patients with X-linked hypophosphatemia (XLH) is lower than that of both the general population and the patients with other chronic diseases, mainly due to diagnostic ...
  • Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry 
    Rueda-Nieto, Senay; Mondejar-López, Pedro; Mira-Escolano, María-Pilar; Cutillas-Tolin, Ana; Alberto-Maceda-Roldan, Luis; Jesus-Arense-Gonzalo, Julián; Palomar-Rodríguez, Joaquin-A (BMC, 2022-06)
    BACKGROUND: Cystic fibrosis (CF) has a vast and heterogeneous mutational spectrum in Europe. This variability has also been described in Spain, and there are numerous studies linking CFTR variants with the symptoms of the ...
  • 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-Juliána; 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, Monica-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 ...
  • The first European consensus on principles of management for achondroplasia 
    Cormier-Daire, Valerie; AlSayed, Moeenaldeen; Ben-Omran, Tawfeg; de-Sousa, Sergio-Bernardo; Boero, Silvio; Fredwall, Svein-O; Guillén-Navarro, Encarna; Irving, Melita; Lampe, Christian; Maghnie, Mohamad; Mortier, Geert; Peijin, Zagorka; Mohnike, Klaus (BMC, 2021-07)
    Achondroplasia is the most common type of skeletal dysplasia, caused by a recurrent pathogenic variant in the fibroblast growth factor receptor 3 (FGFR3). The management of achondroplasia is multifaceted, requiring the ...
  • The interoperability between the Spanish version of the International Classification of Diseases and ORPHAcodes: towards better identification of rare diseases 
    Rico, Juan; Echevarria-González-De-Garibay, Luis-Javier; García-López, María; Guardiola-Vilarroig, Sandra; Maceda-Roldan, Luis-Alberto; Zurriaga, Oscar; Cavero-Carbonell, Clara (BMC, 2021-03)
    BACKGROUND: Rare diseases present a wide spectrum of clinical manifestations and severity levels and are often poorly known and underrepresented, making them difficult to classify. Diagnoses are usually coded using the ...
  • Boletín Epidemiológico de Murcia, 2025, Volumen 45, Número 901, Agosto. Infecciones respiratorias agudas en la Región de Murcia: vigilancia epidemiológica y vacunación estacional 
    Consejería de Salud. Dirección General de Salud Pública y Adicciones. Servicio de Epidemiología (Servicio de Epidemiología. Dirección General de Salud Pública y Adicciones, 2025-08)
  • Impact of the COVID-19 Pandemic on the Hospital: Inpatient's Perceived Quality in Spain 
    López-Picazo, Julio-J; Vidal-Abarca, Inmaculada; Beteta, Dolores; López-Ibáñez, Mercedes; García-Vázquez, Elisa- (SAGE Publications Inc., 2021)
  • Plasmapheresis and Plasma Donation: Challenges in the Blood/Plasma Supply Chain 
    Rivera, José; Lozano, Miquel (SAGE PUBLICATIONS LTD, 2022-07)
  • High Prevalence of Unrecorded Stage 3 Chronic Kidney Disease in Australia, Brazil, Canada, England, and Spain: The Multinational, Observational REVEAL-CKD Study 
    Pecoits-Filho, Roberto; Lim, Kean-Seng; de-Castro, María-Cristina-Ribeiro; Cebrian, Ana; Santamaria, Rafael; Kanumilli, Naresh; Alvarez, Christian-S; Arnold, Matthew; Barone, Salvatore; Chen, Hungta; Jarbrink, Krister; Tangri, Navdeep (WILEY, 2024)
  • Association of plasma biomarkers of fruit and vegetable intake with incident type 2 diabetes: EPIC-InterAct case-cohort study in eight European countries 
    Zheng, Ju-Sheng; Sharp, Stephen-J; Imamura, Fumiaki; Chowdhury, Rajiv; Gundersen, Thomas-E; Steur, Marinka; Sluijs, Ivonne; Schouw, Yvonne-Tvan-der; Agudo, Antonio; Aune, Dagfinn; Barricarte, Aurelio; Boeing, Heiner; Chirlaque-López, María-Dolores; Dorronsoro, Miren; Freisling, Heinz; El-Fatouhi, Douae; Franks, Paul-W; Fagherazzi, Guy; Grioni, Sara; Gunter, Marc-J; Kyro, Cecilie; Katzke, Verena; Kuhn, Tilman; Khaw, Kay-Tee; Laouali, Nasser; Masala, Giovanna; Nilsson, Peter-M; Overvad, Kim; Panico, Salvatore; Papier, Keren; Quiros, JRamon; Rolandsson, Olov; Redondo-Sánchez, Daniel; Ricceri, Fulvio; Schulze, Matthias-B; Spijkerman, Annemieke-MW; Tjonneland, Anne; Tong, Tammy-YN; Tumino, Rosario; Weiderpass, Elisabete; John, Danesh; Butterworth, Adam-S; Riboli, Elio; Forouhi, Nita-G; Wareham, Nicholas-J (BMJ PUBLISHING GROUP, 2020-07)
  • Trends in eczema prevalence in children and adolescents: A Global Asthma Network Phase I Study 
    Langan, Sinead-Maire; Mulick, Amy-R; Rutter, Charlotte-E; Silverwood, Richard-J; Asher, Innes; García-Marcos, Luis; Ellwood, Eamon; Bissell, Karen; Chiang, Chen-Yuan; Sony, Asma-El; Ellwood, Philippa; Marks, Guy-B; Mortimer, Kevin; Martínez-Torres, AElena; Morales, Eva; Pérez-Fernández, Virginia; Robertson, Steven; Williams, Hywel-C; Strachan, David-P; Pearce, Neil (WILEY, 2023-03)
  • Withdrawal of antitumour necrosis factor in inflammatory bowel disease patients in remission: a randomised placebo-controlled clinical trial of GETECCU 
    Gisbert, Javier-P; Donday, María-G; Riestra, Sabino; Lucendo, Alfredo-J; Benitez, José-Manuel; Navarro-Llavat, Merce; Barrio, Jesus; Morales-Alvarado, Victor-J; Rivero, Montserrat; Busquets, David; Leo-Carnerero, Eduardo; Merino, Olga; Nantes-Castillejo, Oscar; Navarro, Pablo; Van-Domselaar, Manuel; Gutierrez, Ana; Alonso-Abreu, Inmaculada; Mejuto, Rafael; Fernández-Salazar, Luis; Iborra, Marisa; Martín-Arranz, María-Dolores; Pineda, Juan-Ramon; Sampedro, Manuela-Josefa; Serra-Nilsson, Katja; Bouhmidi, Abdel; Batista, Lissette; Munoz-Villafranca, Carmen; Rodríguez-Lago, Iago; Ceballos, Daniel; Guerra, Ivan; Manosa, Miriam; Marin-Jiménez, Ignacio; Torrella, Emilio; Vera-Mendoza, Maribel; Casanova, María-José; de-Francisco, Ruth; Arias-González, Laura; Marin-Pedrosa, Sandra; García-Bosch, Orlando; García-Alonso, Francisco-Javier; Delgado-Guillena, Pedro; García, María-José; Torrealba, Leyanira; Nunez-Ortiz, Andrea; Vicuna-Arregui, Miren; Bosca-Watts, Marta-Maia; Blazquez, Isabel; Acosta, Diana; Garre, Ana; Baldan, Montse; Martínez, Concepcion; Barreiro-de-Acosta, Manuel; Domenech, Eugeni; Esteve, María; García-Sánchez, Valle; Nos, Pilar; Panes, Julián; Chaparro, María (BMJ PUBLISHING GROUP, 2024-12-01)
    BACKGROUND AND OBJECTIVES: Primary objectives: to compare the rates of sustained clinical remission at 12 months in patients treated with antitumour necrosis factor (anti-TNF) and immunomodulators who withdraw anti-TNF ...
  • Social Determinants as Mediators of the Emotional State of People With Type 2 Diabetes and/or Hypertension During the COVID-19 Pandemic in Ecuador and Spain 
    Sanchis-Ramon, María-José; Chilet-Rosell, Elisa; Peralta, Andres; Puig-García, Marta; Rivadeneira, María-Fernanda; Caicedo, Cintia; Benazizi-Dahbi, Ikram; Lumbreras, Blanca; Nicols, Montse; Cebrian, Ana; Ricart, Wifredo; López-Miras, Ester; Parker, Lucy-A (WILEY, 2024-12)
    INTRODUCTION: We aimed to explore the impact of the COVID-19 pandemic and the resulting restrictions on the emotional state of people with type 2 diabetes mellitus (T2DM) and/or hypertension in Ecuador and Spain. Given the ...
  • Landscape of antisense genes in the human genome and identification of new human hepatic antisense RNAs by long-read sequencing 
    Rojo-Carrillo, Juan-José; Garrido-Rodríguez, Pedro; Llamas-López, María; Cifuentes-Riquelme, Rosa; Padilla, José; Ramos-Molina, Bruno; Lozano, María-Luisa; de-la-Morena-barrio, Belen; de-la-Morena-barrio, María-Eugenia; Corral, Javier (BMC, 2024-11)
    BACKGROUND: Protein-coding genes have been considered the functional part of the genome, although they represent only 2% of the genome. In contrast, more than 90% of the genome produces non-coding RNA (ncRNA), including ...
  • Sitting less and moving more: the impact of physical activity on mortality in the population of Spain 
    de-la-Camara, Miguel-A; Ortiz, Cristina; Granero-Melcon, Beatriz; Martínez-Portillo, Alejandro; Neira-Leon, Montserrat; Galan, Inaki (BMC, 2024-11)
    BACKGROUND: Sitting time (ST) constitutes a significant aspect of sedentary behavior, and its worldwide escalation raises concerns regarding public health. International guidelines recommend limiting sedentary time and ...