UAB Digital Repository of Documents 34 records found  1 - 10nextend  jump to record: Search took 0.01 seconds. 
1.
11 p, 1.1 MB Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome : clinical and genetic study in a series of Spanish patients / Pena-Couso, Laura (Centro Nacional de Investigaciones Oncológicas Carlos III (Espanya). Familial Cancer Clinical Unit) ; Ercibengoa Arana, Maria (Respiratory Infection and Antimicrobial Resistance Group. Infectious Diseases Area. BioDonostia; Microbiology Department. Osakidetza Basque Health Service. Donostialdea Integrated Health Organization) ; Mercadillo, Fátima (Familial Cancer Clinical Unit. Spanish National Cancer Research Centre (CNIO)) ; Gómez-Sánchez, David (Clinical and Translational Lung Cancer Research Unit. i+12 Research Institute and Biomedical Research Networking Center in Oncology (CIBERONC)) ; Inglada-Pérez, Lucia (Biostatistics Unit. Statistics and Operational Research Department. Faculty of Medicine. Complutense University of Madrid) ; Santos, Maria Lucia S.F. (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre (CNIO)) ; Lanillos, Javier (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre (CNIO)) ; Gutiérrez-Abad, David (Medical Oncology Service. University Hospital of Fuenlabrada) ; Hernández, Almudena (Dermatology Service. University Hospital of Fuenlabrada) ; Carbonell, Pablo (Biochemistry and Clinical Genetics Centre. Virgen Arrixaca University Hospital) ; Letón, Rocío (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre (CNIO)) ; Robledo, Mercedes (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Rodriguez-Antona, Cristina (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Perea García, José (Health Research Institute-Fundación Jiménez Díaz University Hospital) ; Urioste, Miguel (Familial Cancer Clinical Unit. Spanish National Cancer Research Centre (CNIO)) ; Alonso, Miguel Ángel (Virgen del Camino Hospital) ; Andrés, Raquel (0000-0002-0762-6415) ; Arévalo, Sara (Hospital of Donostia) ; Arias, Maria del Mar (Virgen del Camino Hospital) ; Balmaña Gelpí, Judith (Hospital Universitari Vall d'Hebron) ; Beristain, Elena (Txagorritxu Hospital) ; Blanco Guillermo, Ignacio (Institut Català d'Oncologia) ; Boronat, Mauro (Hospital of Gran Canaria) ; Brunet, Joan (Institut Català d'Oncologia) ; Cózar-León, Victoria (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ; del Campo Casanelles, Miguel (Hospital Universitari Vall d'Hebron) ; Díaz, Arantza (Móstoles Hospital) ; Gabau, Elisabeth (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Barcina, María Jesús (Hospital de Basurto (Bilbao, Biscaia)) ; González, Margarita (Can Misses Hospital) ; Guitart, Miriam (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Hernán, Imma (Terrassa Hospital) ; Hernández, Héctor Salvador (Sant Joan de Déu Hospital) ; Hernando, Susana (Alcorcón Hospital) ; Lacambra, Carmen (Severo Ochoa Hospital) ; Lasa, Adriana (Institut d'Investigació Biomèdica Sant Pau) ; Lastra, Enrique (Hospital of Burgos) ; Llort, Gemma (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; del Rosario Marín, Maria (Puerta del Mar Hospital) ; Marrupe, David (Móstoles Hospital) ; Martínez, Francisco (Nuestra Señora de La Candelaria Hospital) ; Martínez, Victor (La Paz Hospital) ; Martorell, Loreto (Sant Joan de Déu Hospital) ; Orera, Maria (Gregorio Marañón Hospital) ; Pedrinaci, Susana (Hospital Universitario Virgen de las Nieves (Granada)) ; Pérez, Pedro (San Carlos Hospital) ; Pineda, Marta (Institut Català d'Oncologia) ; Plasencia, Ana Maria (Asturias Central Hospital) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Robles, Luis ; Rodà, Diana (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Rodríguez, Nuria (La Paz Hospital) ; Rosell Andreo, Jordi (Son Dureta Hospital) ; Sáez, Raquel (Hospital of Donostia) ; Salvat, Monica (Sant Joan de Reus) ; Sánchez, Antonio (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ; Santana, Alfredo (Hospital of Gran Canaria) ; Soto, Jose Luis (General Hospital of Elche) ; Toll, Agustin (Del Mar Hospital) ; Tuneu, Anna (Hospital of Donostia) ; Vázquez, Carlos (Hospital of Gran Canaria)
Background: The limited knowledge about the PTEN hamartoma tumor syndrome (PHTS) makes its diagnosis a challenging task. We aimed to define the clinical and genetic characteristics of this syndrome in the Spanish population and to identify new genes potentially associated with the disease. [...]
2022 - 10.1186/s13023-021-02079-7
Orphanet Journal of Rare Diseases, Vol. 17 Núm. 1 (december 2022) , p. 85  
2.
7 p, 1.1 MB Survey on the management of Pompe disease in routine clinical practice in Spain / Domínguez-González, C (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Díaz-Marín, Carmina (Hospital General Universitario de Alicante (Alacant, País Valencià)) ; Juntas-Morales, Raúl (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Nascimiento-Osorio, Andrés (Hospital Sant Joan de Déu. Unitat Neuromuscular. Servei de Neurologia. Recerca aplicada en malalties neuromusculars. Institut de Recerca Sant Joan de Déu. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER). Instituto de Salud Carlos III) ; Rivera-Gallego, Alberto (Hospital Álvaro Cunqueiro (Vigo)) ; Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau)
Background: Despite the availability of several clinical guidelines, not all health professionals use their recommendations to manage patients with Pompe disease, a rare genetic disorder involving high-impact therapy. [...]
2022 - 10.1186/s13023-022-02574-5
Orphanet Journal of Rare Diseases, Vol. 17 Núm. 1 (december 2022) , p. 426  
3.
9 p, 2.5 MB Collaborative model for diagnosis and treatment of very rare diseases : experience in Spain with thymidine kinase 2 deficiency / Domínguez-González, C (Instituto de Salud Carlos III) ; Madruga-Garrido, Marcos (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Hirano, Michio (Columbia University Medical Center) ; Martí, Itxaso (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Martín, Miguel A. (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Munell Casadesus, Francina (Hospital Universitari Vall d'Hebron) ; Nascimento, Andrés (Institut de Recerca Sant Joan de Déu) ; Olive, Montse (Institut d'Investigació Biomèdica Sant Pau) ; Quan, Joanne (Zogenix. Inc.) ; Sardina, Maria Dolores (Complejo Hospitalario Universitario de Badajoz) ; Martí, Ramon A (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Paradas, Carmen (Instituto de Salud Carlos III) ; Universitat Autònoma de Barcelona
Background: Mitochondrial diseases are difficult to diagnose and treat. Recent advances in genetic diagnostics and more effective treatment options can improve patient diagnosis and prognosis, but patients with mitochondrial disease typically experience delays in diagnosis and treatment. [...]
2021 - 10.1186/s13023-021-02030-w
Orphanet Journal of Rare Diseases, Vol. 16 Núm. 1 (december 2021) , p. 407  
4.
1 p, 560.7 KB Correction to : Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population / Rodríguez-Rubio, Enrique (Universidad de Oviedo. Departamento de Medicina) ; Gil-Peña, Helena (Hospital Universitario Central de Asturias) ; Chocron, Sara (Hospital Universitari Vall d'Hebron) ; Madariaga, Leire (Instituto de Investigación Sanitaria Biocruces Bizkaia) ; de la Cerda-Ojeda, Francisco (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Fernández-Fernández, Marta (Complejo Asistencial Universitario de León. Servicio Pediatría) ; de Lucas-Collantes, Carmen (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Gil, Marta (Complejo Hospitalario Universitario de Santiago de Compostela) ; Luis-Yanes, María Isabel (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ; Vergara, Inés (Complejo Hospitalario Universitario de A Coruña) ; González-Rodríguez, Juan David (Hospital General Universitario Santa Lucía (Cartagena, Múrcia)) ; Ferrando, Susana (Hospital Clínic Universitari (València)) ; Antón-Gamero, Montserrat (Hospital Universitario Reina Sofía (Còrdova, Espanya)) ; Hidalgo-Barquero, Marta Carrasco (Complejo Hospitalario Universitario de Badajoz) ; Fernández-Escribano, Angustias (Hospital General Universitario Gregorio Marañón) ; Fernández-Maseda, Mº Ángeles (Hospital Virgen de la Salud (Toledo)) ; Espinosa, Laura (Hospital Universitario infantil La Paz (Madrid)) ; Oliet, Aniana (Hospital Universitario Severo Ochoa) ; Vicente, Antonio (Hospital Vega Baja (Oriola, Alacant)) ; Ariceta Iraola, Gema (Hospital Universitari Vall d'Hebron) ; Santos, Fernando (Hospital Universitario Central de Asturias)
2021 - 10.1186/s13023-021-01786-5
Orphanet Journal of Rare Diseases, Vol. 16 (april 2021)  
5.
15 p, 1.1 MB Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease? / Hughes, Derralynn A. (University College London) ; Aguiar, Patrício (Lisbon University) ; Lidove, Olivier (Croix Saint Simon Hospital, Paris) ; Nicholls, Kathleen (University of Melbourne) ; Nowak, Albina (University Hospital Zurich (Suïssa)) ; Thomas, Mark (Cincinnati Children's Hospital Medical Center (CCHMC). Center for Fetal and Placental Research) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Vujkovac, Bojan (General Hospital Slovenj Gradec) ; West, Michael L. (Dalhousie University) ; Feriozzi, Sandro (Belcolle Hospital) ; Universitat Autònoma de Barcelona
Variable disease progression confounds accurate prognosis in Fabry disease. Evidence supports the long-term benefit of early intervention with disease-specific therapy, but current guidelines recommend treatment initiation based on signs that may present too late to avoid irreversible organ damage. [...]
2022 - 10.1186/s13023-022-02181-4
Orphanet Journal of Rare Diseases, Vol. 17 (february 2022)  
6.
9 p, 499.7 KB Everolimus safety and efficacy for renal angiomyolipomas associated with tuberous sclerosis complex : a Spanish expanded access trial / Robles, Nicolás Roberto (Complejo Hospitalario Infanta Cristina (Badajoz)) ; Peces, Ramón (Hospital Universitario La Paz (Madrid)) ; Gómez-Ferrer, Álvaro (Fundació Institut Valencià d'Oncologia) ; Villacampa, Felipe (Hospital Universitario 12 de Octubre (Madrid)) ; Álvarez-Ossorio, Jose Luis (Hospital Universitario Puerta del Mar (Cadis, Andalusia)) ; Morote Robles, Juan (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Herrera-Imbroda, Bernardo (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Nieto, Javier (Hospital General Universitario de Ciudad Real) ; Carballido, Joaquín (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ; Anido, Urbano (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Valero, Marian (Novartis Farmacéutica (Barcelona, Catalunya)) ; Meseguer, Cristina (Novartis Farmacéutica (Barcelona, Catalunya)) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
Renal angiomyolipomas (AML) are usual manifestations of tuberous sclerosis complex (TSC) that may cause aneurism-related haemorrhages and renal impairment. Everolimus has emerged as an alternative to surgery/embolization. [...]
2016 - 10.1186/s13023-016-0517-9
Orphanet Journal of Rare Diseases, Vol. 11 (september 2016)  
7.
6 p, 432.3 KB A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) / Serrano, Natalia Lourdes (Hospital Garrahan) ; De Diego, Victor (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Cuadras, Daniel (Fundació Sant Joan de Déu) ; Martinez Monseny, Antonio F. (Hospital Sant Joan de Déu (Manresa)) ; Velázquez-Fragua, Ramón (Hospital Universitario La Paz (Madrid)) ; López, Laura (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Felipe-Rucián, Ana (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; González Gutiérrez-Solana, Luis (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Pérez-Dueñas, Belén (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Serrano, Mercedes (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Universitat Autònoma de Barcelona
We aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS). We sought correlation between cerebellar volumetry and clinical situation. [...]
2017 - 10.1186/s13023-017-0707-0
Orphanet Journal of Rare Diseases, Vol. 12 (september 2017)  
8.
15 p, 1.4 MB Recommendations from the European Working Group for Value Assessment and Funding Processes in Rare Diseases (ORPH-VAL) / Annemans, Lieven (Ghent University) ; Aymé, Ségolène (ICM, Paris) ; Le Cam, Yann (EURORDIS-Rare Diseases Europe, Paris) ; Facey, Karen (University of Edinburgh) ; Gunther, Penilla (Swedish Parliament, Stockholm) ; Nicod, Elena (Bocconi University, Milan) ; Reni, Michele (IRCCS Ospedale San Raffaele Scientific Institute, Milan) ; Roux, Jean-Louis (EURORDIS-Rare Diseases Europe, Paris) ; Schlander, Michael (Institute for Innovation & Valuation in Health Care, Wiesbaden, Germany) ; Taylor, David (University College London (UCL)) ; Tomino, Carlo (Clinical Research at IRCSS San Raffaele, Rome) ; Torrent-Farnell, Josep (Universitat Autònoma de Barcelona. Departament de Farmacologia, de Terapèutica i de Toxicologia) ; Upadhyaya, Sheela (NICE, Manchester) ; Hutchings, Adam (Dolon Ltd, London) ; Le Dez, Lugdivine (European government relations and public policy at Celgene, Brussels)
Rare diseases are an important public health issue with high unmet need. The introduction of the EU Regulation on orphan medicinal products (OMP) has been successful in stimulating investment in the research and development of OMPs. [...]
2017 - 10.1186/s13023-017-0601-9
Orphanet Journal of Rare Diseases, Vol. 12 (march 2017)  
9.
15 p, 807.5 KB Evidence supporting regulatory-decision making on orphan medicinal products authorisation in Europe : methodological uncertainties / Pontes García, Caridad (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Fontanet Sacristán, Juan Manuel (Institut d'Investigació Biomèdica Sant Pau) ; Vives, Roser (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Sancho, Aranzazu (Instituto de Investigación Sanitaria Puerta de Hierro - Segovia de Arana) ; Gómez-Valent, Mònica (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Ríos, José (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Morros, Rosa (Institut Universitari d'Investigació en Atenció Primària Jordi Gol) ; Martinalbo, Jorge (Universitat Autònoma de Barcelona. Departament de Farmacologia, de Terapèutica i de Toxicologia) ; Posch, Martin (Medical University of Vienna) ; Koch, Armin (Hannover Medical School) ; Roes, Kit (University of Utrecht, Utrecht, The Netherlands) ; Rengerink, Katrien Oude (University of Utrecht, Heidelberglaan, CX Utrecht, The Netherlands) ; Torrent-Farnell, Josep (Institut d'Investigació Biomèdica Sant Pau) ; Torres, Ferran (Institut d'Investigacions Biomèdiques August Pi i Sunyer)
To assess uncertainty in regulatory decision-making for orphan medicinal products (OMP), a summary of the current basis for approval is required; a systematic grouping of medical conditions may be useful in summarizing information and issuing recommendations for practice. [...]
2018 - 10.1186/s13023-018-0926-z
Orphanet Journal of Rare Diseases, Vol. 13 (november 2018)  
10.
16 p, 1.3 MB Applicability and added value of novel methods to improve drug development in rare diseases / Mitroiu, Marian (University of Utrecht) ; Rengerink, Katrien Oude (University of Utrecht) ; Pontes García, Caridad (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Sancho, Aranzazu (Universitat Autònoma de Barcelona. Departament de Farmacologia, de Terapèutica i de Toxicologia) ; Vives, Roser (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Pesiou, Stella (Universitat Autònoma de Barcelona. Departament de Farmacologia, de Terapèutica i de Toxicologia) ; Fontanet Sacristán, Juan Manuel (Universitat Autònoma de Barcelona. Departament de Farmacologia, de Terapèutica i de Toxicologia) ; Torres, Ferran (Universitat Autònoma de Barcelona) ; Nikolakopoulos, Stavros (University of Utrecht) ; Pateras, Konstantinos (University of Utrecht) ; Rosenkranz, Gerd (Medical University of Vienna) ; Posch, Martin (Medical University of Vienna) ; Urach, Susanne (Medical University of Vienna) ; Ristl, Robin (Medical University of Vienna) ; Koch, Armin (Hannover Medical School) ; Loukia, Spineli (Hannover Medical School) ; van der Lee, Johanna H. (University of Amsterdam) ; Roes, Kit C. B. (University of Utrecht)
The ASTERIX project developed a number of novel methods suited to study small populations. The objective of this exercise was to evaluate the applicability and added value of novel methods to improve drug development in small populations, using real world drug development programmes as reported in European Public Assessment Reports. [...]
2018 - 10.1186/s13023-018-0925-0
Orphanet Journal of Rare Diseases, Vol. 13 (november 2018)  

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