Browsing by Subject Rare diseases
Showing results 1 to 20 of 72
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| Issue Date | Title | Author(s) |
|---|---|---|
| 25-Jan-2022 | A multicriteria decision analysis (MCDA) applied to three long-term prophylactic treatments for hereditary angioedema in Spain | Zozaya, Néboa; Caballero, Teresa; González Quevedo, Teresa; Gamboa Setien, Pedro; González, M. Ángeles; Jódar Masanés, Ramón José; Poveda Andrés, José Luis; Guillén Navarro, Encarna; Rivero Cuadrado, Agustín; Hidalgo Vega, Álvaro |
| 16-Apr-2014 | Adrenal hormonal imbalance in acute intermittent porphyria patients: results of a case control study | Pozo, Oscar J.; Marcos, Josep; Fabregat, Andreu; Ventura, Rosa; Casals Mercadal, Gregori; Aguilera, Paula; Segura, Jordi; To i Figueras, Jordi |
| 20-Apr-2021 | Adrenomedullin as a potential biomarker involved in patients with hereditary hemorrhagic telangiectasia | Iriarte, Adriana; Ochoa Callejero, L.; García Sanmartín, J.; Cerdà, Pau; Garrido, P.; Narro Íñiguez, J.; Mora Luján, José María; Jucglà, Anna; Sánchez-Corral, M.A.; Cruellas, F.; Gamundi, Enric; Ribas, Jesús; Castellote Alonso, José; Viñals Canals, Francesc; Martínez, A.; Riera Mestre, Antoni |
| Dec-1991 | La artrogriposis múltiple congénita y sus manifestaciones orales | Viñals Iglesias, Helena; Cepero Campá, Santiago; Cahuana Cárdenas, Abel B. (Abel Belizario) |
| 14-Dec-2022 | BasC K154 role on cytosolic gate closing. The bacterial alanine-serine-cysteine transporter as a model | Nicolàs i Aragó, Adrià |
| 31-Jan-2014 | Baseline characteristics and disease burden in patients in the International Paroxysmal Nocturnal Hemoglobinuria Registry | Schrezenmeier, Hubert; Muus, Petra; Socié, Gérard; Szer, Jeffrey; Urbano Ispizua, Álvaro; Maciejewski, Jaroslaw; Brodsky, Robert A.; Bessler, Monica; Kanakura, Yuzuru; Rosse, Wendell; Khursigara, Gus; Bedrosian, Camille L.; Hillmen, Peter |
| 19-Sep-2014 | Bases moleculars de la Leucoeocefalopatia Megalencefàllca amb Quists subcorlicals. Utilització de models animals i cel·lulars | Sirisi Dolcet, Sònia |
| 1-Oct-2021 | Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations | Hochberg, Irit; Demain, Leigh A. M.; Richer, Julie; Thompson, Kyle; Urquhart, Jill E.; Rea, Alessandro; Pagarkar, Waheeda; Rodríguez Palmero, Agustí; Schlüter, Agatha; Verdura, Edgard; Pujol, Aurora, 1968-; Quijada Fraile, Pilar; Amberger, Albert; Deutschmann, Andrea J.; Demetz, Sandra; Gillespie, Meredith; Belyantseva, Inna A.; Mcmillan, Hugh J.; Barzik, Melanie; Beaman, Glenda M.; Motha, Reeya; Ng, Kah Ying; O’sullivan, James; Williams, Simon G.; Bhaskar, Sanjeev S.; Lawrence, Isabella R.; Jenkinson, Emma M.; Zambonin, Jessica L.; Blumenfeld, Zeev; Yalonetsky, Sergey; Oerum, Stephanie; Rossmanith, Walter; Yue, Wyatt W.; Zschocke, Johannes; Munro, Kevin J.; Battersby, Brendan J.; Friedman, Thomas B.; Taylor, Robert W.; O’keefe, Raymond T.; Newman, William G. |
| 21-Feb-2021 | Challenges and Opportunities for Drug Repositioning inFibrodysplasia Ossificans Progressiva | Ventura Pujol, Francesc; Williams, Eleanor; Ikeya, Makoto; Bullock, Alex N.; Ten Dijke, Peter; Goumans, Marie José; Sanchez Duffhues, Gonzalo |
| 27-Oct-2018 | Characterisation of patients with familial chylomicronaemia syndrome (FCS) and multifactorial chylomicronaemia syndrome (MCS): establishment of an FCS clinical diagnostic score | Moulin, Philippe; Dufour, Robert; Averna, Maurizio; Arca, Marcello; Cefalù, Angelo B.; Noto, Davide; D'Erasmo, Laura; Di Costanzo, Alessia; Marçais, Christophe; Alvarez-Sala Walther, Luis Antonio; Banach, Maciej; Borén, Jan; Cramb, Robert; Gouni-Berthold, Ionna; Hughes, Elizabeth; Johnson, Colin; Pintó Sala, Xavier; Reiner, eljko; Roeters Van Lennep, Jeanine; Soran, Handrean; Stefanutti, Claudia; Stroes, Erik; Bruckert, Eric |
| May-2022 | CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative | Luque, Juan; Mendes, Ingrid; Gómez, Beatriz; Morte, Beatriz; López de Heredia, Miguel; Herreras, Enrique; Corrochano, Virginia; Bueren, Juan; Gallano, Pía; Artuch Iriberri, Rafael; Fillat, Cristina; Pérez Jurado, Luis A.; Montoliu, Lluis; Carracedo Álvarez, Ángel; Millán, José M.; Webb, Susan M.; Palau, Francesc; The CIBERER Network; Lapunzina, Pablo |
| 4-Nov-2021 | Combining exome sequencing and functional studies to identify causal genes of ultra-rare neurodevelopmental disorders | Castilla-Vallmanya, Laura |
| 14-Mar-2015 | Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care | Eggermann, Thomas; Netchine, Irène; Temple, I. Karen; Tümer, Zeynep; Monk, Dave Nicholas; Mackay, Deborah J. G.; Grønskov, Karen; Riccio, Andrea; Linglart, Agnès; Maher, Eamonn R. |
| 12-Feb-2020 | Cost of early-stage mycosis fungoides treatments in Spain | Ortiz Romero, Pablo Luis; Servitje, Octavio; Estrach Panella, Ma. Teresa (María Teresa); Izu Belloso, Rosa María; Fernández de Misa, Ricardo; Gallardo, F. (Fernando); López Martínez, Noemí; Pérez Mitru, Alejandro |
| 25-May-2020 | Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry | Sánchez Martínez, Rosario; Iriarte, Adriana; Mora Luján, José María; Patier, José Luis; López Wolf, Daniel; Ojeda, Ana; Torralba, Miguel Angel; Juyol, María Coloma; Gil, Ricardo; Añón, Sol; Salazar-Mendiguchía, Joel; Riera Mestre, Antoni; RiHHTa Investigators of the Rare Diseases Working Group |
| 28-Mar-2025 | Dentomaxillofacial abnormalities associated with bone diseases in two pediatric populations: Southern Europe and Eastern Africa | Mashala, Elias Isaack |
| 30-Nov-2023 | Desenvolupament d’una estratègia de teràpia gènica pel tractament de l’Acidúria Glutàrica tipus I | Mateu Bosch, Anna |
| 21-Oct-2024 | Development of an Expert-Based Scoring System for Early Identification of Patients with Inborn Errors of Immunity in Primary Care Settings – the PIDCAP Project | Rivière, Jacques G.; Carot Sans, Gerard; Piera Jiménez, Jordi; de la Torre, Sergi; Pidcap Expert Group; Cos, Xavier; Serra Picamal, Xavier; Soler Palacin, Pere |
| 27-Jul-2021 | Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome | Garcia, Patricia; Fernández Hernández, Rita; Cuadrado, Ana; Coca, Ignacio; Gomez, Antonio; Maqueda, Maria; Latorre Pellicer, Ana; Puisac, Beatriz; Ramos, Feliciano J.; Sandoval, Juan; Esteller, Manel; Mosquera Mayo, José Luís; Rodriguez, Jairo; Pié, Juan; Losada, Ana; Queralt Badia, Ethel |
| 1-Mar-2022 | Early Access to Medicines: Use of Multicriteria Decision Analysis (MCDA) as a Decision Tool in Catalonia (Spain) | Gasol, Montse; Paco, Noelia; Guarga, Laura; Bosch Gil, Josep Àngel; Pontes García, Caridad; Obach Cortadellas, Mercè |