UAB Digital Repository of Documents 24 records found  1 - 10nextend  jump to record: Search took 0.03 seconds. 
1.
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)  
2.
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 (Department of Nephrology, Hospital Universitario Infanta Cristina, REDINREN, Avenida de Elvas, S/N, 06006 Badajoz, Spain) ; 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 S.A (Barcelona)) ; Meseguer, Cristina (Novartis Farmacéutica S.A (Barcelona)) ; 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)  
3.
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)  
4.
10 p, 2.1 MB Late-onset thymidine kinase 2 deficiency : a review of 18 cases / Domínguez-González, Cristina (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Hernández-Laín, Aurelio (Hospital Universitario 12 de Octubre (Madrid)) ; Rivas, Eloy (Universidad de Sevilla) ; Hernández-Voth, Ana (Hospital Universitario 12 de Octubre (Madrid)) ; Sayas Catalán, Javier (Hospital Universitario 12 de Octubre (Madrid)) ; Fernández-Torrón, Roberto (Hospital Universitario de Donostia (Sant Sebastià, País Basc)) ; Fuiza-Luces, Carmen (Hospital Universitario 12 de Octubre (Madrid)) ; García García, Jorge (Complejo Hospitalario Universitario de Albacete) ; Morís, Germán (Hospital Central de Asturias) ; Olivé, Montse (Institut d'Investigació Biomèdica de Bellvitge) ; Miralles, Frances (Hospital Universitari Son Espases (Palma de Mallorca, Balears)) ; Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Caballero Sahelices, Concesa (Centro de Investigación Biomédica en Red de Enfermedades Respiratorias) ; Méndez-Ferrer, Bosco (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Martí, Ramon A. (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; García Arumí, Elena (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Badosa, María Carmen (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Esteban, Jesús (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Jimenez-Mallebrera, Cecilia (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Encinar, Alberto Blazquez (Hospital Universitario 12 de Octubre (Madrid)) ; Arenas, Joaquín (Hospital Universitario 12 de Octubre (Madrid)) ; Hirano, Michio (Columbia University Medical Center, New York) ; Martin, Miguel Ángel (Hospital Universitario 12 de Octubre (Madrid)) ; Paradas, Carmen (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Universitat Autònoma de Barcelona
TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the 'myopathic form' of the mitochondrial depletion/multiple deletions syndrome, with a wide spectrum of severity. [...]
2019 - 10.1186/s13023-019-1071-z
Orphanet Journal of Rare Diseases, Vol. 14 (may 2019)  
5.
8 p, 1.1 MB Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) / Scalco, Renata S. (National Hospital (Regne Unit)) ; Lucia, Alejandro (Universidad Europea de Madrid) ; Santalla, Alfredo (Universidad Pablo de Olavide) ; Martinuzzi, Andrea (IRCCS Medea Scientific Insitute (Itàlia)) ; Vavla, Marinela (IRCCS Medea Scientific Insitute (Itàlia)) ; Reni, Gianluigi (IRCCS Medea Scientific Insitute (Itàlia)) ; Toscano, Antonio (University of Messinae) ; Musumeci, Olimpia (University of Messina) ; Voermans, Nicol C. (Radboud University Medical Center) ; Kouwenberg, Carlyn V. (Radboud University Medical Center) ; Laforêt, Pascal (Paris Saclay University) ; San-Millán, Beatriz (Galicia Sur Health Research Institute (Galicia)) ; Vieitez, Irene (Galicia Sur Health Research Institute (Galicia)) ; Siciliano, Gabriele (University of Pisa) ; Kühnle, Enrico (University Hospital Bochum) ; Trost, Rebeca (University Hospital Bochum) ; Sacconi, Sabrina (Université Côte D'Azur) ; Stemmerik, Mads G. (Copenhagen University Hospital Rigshospitalet) ; Durmus, Hacer (Istanbul University) ; Kierdaszuk, Biruta (Medical University of Warsaw) ; Wakelin, Andrew (Association for Glycogen Storage Disease (Regne Unit)) ; Andreu, Antoni L. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Marti, Ramon (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Quinlivan, Ros (National Hospital (Regne Unit)) ; Vissing, John (Copenhagen University Hospital Rigshospitalet) ; Universitat Autònoma de Barcelona
The European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) was launched to register rare muscle glycogenoses in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases through workshops and websites. [...]
2020 - 10.1186/s13023-020-01562-x
Orphanet Journal of Rare Diseases, Vol. 15 (november 2020)  
6.
11 p, 563.5 KB Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry) / Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Andreu, Antoni L. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Bruno, Claudio (IRCCS Istituto Giannina Gaslini) ; Hadjigeorgiou, Georgios M. (University of Thessaly) ; Haller, Ronald G. (Institute for Exercise and Environmental Medicine of Texas Health Presbyterian Hospital) ; Laforêt, Pascal (Paris Saclay University) ; Lucía, Alejandro (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Martín, Miguel A. (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Martinuzzi, Andrea (IRCCS Eugenio Medea-Associazione "La Nostra Famiglia" Scientific Institute) ; Navarro, Carmen (Institute of Biomedical Research of Vigo) ; Oflazer, Piraye (Istanbul University) ; Pouget, Jean (Assistance Publique-Hopitaux de Marseille) ; Quinlivan, Ros (UCL Institute of Neurology, National Hospital) ; Sacconi, Sabrina (University of Nice) ; Scalco, Renata S. (UCL Institute of Neurology (Regne Unit)) ; Toscano, Antonio (University of Messina) ; Vissing, John (Copenhagen University Hospital Rigshospitalet) ; Vorgerd, Matthias (University Hospital Bergmannsheil Bochum) ; Wakelin, Andrew (Association for Glycogen storage Disease (Regne Unit)) ; Martí, Ramon A. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
International patient registries are of particular importance for rare disorders, as they may contribute to overcome the lack of knowledge derived from low number of patients and limited awareness of these diseases, and help to learn more about their geographical or population-based specificities, which is relevant for research purposes and for promoting better standards of care and diagnosis. [...]
2020 - 10.1186/s13023-020-01455-z
Orphanet Journal of Rare Diseases, Vol. 15 (october 2020)  
7.
9 p, 1.5 MB High content drug screening for Fanconi anemia therapeutics / Montanuy, Helena (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Camps-Fajol, Cristina (Institut d'Investigació Biomèdica Sant Pau) ; Carreras-Puigvert, Jordi (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Häggblad, Maria (Karolinska Institutet (Estocolm, Suècia)) ; Lundgren, Bo (Stockholm University) ; Aza-Carmona, Miriam (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Helleday, Thomas (Karolinska Institutet Biology, Science for Life Laboratory, Department of Molecular Biochemistry and Biophysics) ; Minguillón Pedreño, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Surrallés i Calonge, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
Fanconi anemia is a rare disease clinically characterized by malformations, bone marrow failure and an increased risk of solid tumors and hematologic malignancies. The only therapies available are hematopoietic stem cell transplantation for bone marrow failure or leukemia, and surgical resection for solid tumors. [...]
2020 - 10.1186/s13023-020-01437-1
Orphanet Journal of Rare Diseases, Vol. 15 (june 2020)  
8.
11 p, 793.9 KB The international X-linked hypophosphataemia (XLH) registry (NCT03193476) : rationale for and description of an international, observational study / Padidela, Raja (University of Manchester) ; Nilsson, Ola (Örebro University) ; Makitie, Outi (Helsinki University Hospital) ; Beck-Nielsen, Signe (Aarhus University Hospital (Aarhus, Dinamarca)) ; Ariceta Iraola, Gema (Hospital Universitari Vall d'Hebron) ; Schnabel, Dirk (University Medicine Berlin) ; Brandi, Maria Luisa (University of Florence) ; Boot, Annemieke (University of Groningen) ; Levtchenko, Elena (University Hospitals Leuven (Bèlgica)) ; Smyth, Michael (Kyowa Kirin International) ; Jandhyala, Ravi (Medialis Ltd (Regne Unit)) ; Mughal, Zulf (University of Manchester)
X-linked hypophosphataemia (XLH) is a rare, hereditary, progressive and lifelong phosphate wasting disorder characterised by pathological elevations in fibroblast growth factor (FGF) 23 concentration and activity; XLH has an incidence of approximately 1 in 20-25,000 individuals. [...]
2020 - 10.1186/s13023-020-01434-4
Orphanet Journal of Rare Diseases, Vol. 15 (june 2020)  
9.
12 p, 1.2 MB Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population / Rodríguez-Rubio, Enrique (University of Oviedo. Pediatric Research, Medicine Department) ; Gil-Peña, Helena (Hospital Universitario Central de Asturias. AGC Pediatría) ; 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 (Córdoba, Espanya)) ; Carrasco Hidalgo-Barquero, Marta (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. AGC Pediatría) ; Universitat Autònoma de Barcelona
X-linked hypophosphatemia (XLH) is a hereditary rare disease caused by loss-of-function mutations in PHEX gene leading tohypophosphatemia and high renal loss of phosphate. Rickets and growth retardation are the major manifestations of XLH in children, but there is a broad phenotypic variability. [...]
2021 - 10.1186/s13023-021-01729-0
Orphanet Journal of Rare Diseases, Vol. 16 (february 2021)  
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14 p, 572.6 KB European expert network on rare communicable diseases and other rare diseases linked to mobility and globalisation focused on health care provision (EURaDMoG) : a feasibility study / Requena-Méndez, A. (Karolinska Institutet (Estocolm, Suècia). Department of Medicine) ; Bisoffi, Z. (Università di Verona. Dipartimento di Diagnostica e Sanità Pubblica) ; Vives Corrons, Juan Luís (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Gascon, Joaquim (Barcelona Institute for Global Health (ISGlobal)) ; Plasència, A. (Barcelona Institute for Global Health (ISGlobal)) ; Universitat Autònoma de Barcelona
Introduction: In the current mobility and globalization context, there is a growing need to identify potential changes on the pattern of diseases in the European Union (EU)/European Economic Area (EEA) and provide accurate diagnosis and treatment for the population. [...]
2020 - 10.1186/s13023-020-01534-1
Orphanet Journal of Rare Diseases, Vol. 15 Núm. 1 (january 2020) , p. 291  

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