UAB Digital Repository of Documents 15 records found  1 - 10next  jump to record: Search took 0.02 seconds. 
1.
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 Niño Jesús. Servicio Nefrología) ; Gil, Marta (Hospital Universitario de Santiago de Compostela. Servicio Pediatría) ; Luis-Yanes, María Isabel (Hospital Universitario Nuestra Señora de Candelaria. Servicio Pediatría) ; Vergara, Inés (Complejo Hospitalario Universitario de A Coruña) ; González-Rodríguez, Juan David (Hospital General Universitario Santa Lucia. Unidad de Nefrología) ; Ferrando, Susana (Hospital Clínic Universitari (València)) ; Antón-Gamero, Montserrat (Hospital Universitario Reina Sofía (Córdoba, Espanya)) ; Carrasco Hidalgo-Barquero, Marta (Unidad de Nefrología Pediátrica, Hospital Universitario de Badajoz) ; Fernández-Escribano, Angustias (Hospital Gregorio Marañón (Madrid)) ; Fernández-Maseda, Mº Ángeles (Hospital Virgen de la Salud. Unidad de Nefrología Pediátrica) ; Espinosa, Laura (Hospital Universitario infantil La Paz (Madrid)) ; Oliet, Aniana (Hospital Severo Ochoa. Servicio Nefrología) ; Vicente, Antonio (Hospital Vega Baja. Servicio Pediatría) ; Ariceta, 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)  
2.
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. 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, J. (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  
3.
12 p, 2.0 MB Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants / Brasil, Sandra (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Leal, Fátima (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Vega, Ana (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Navarrete, Rosa (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Ecay, María Jesús (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Desviat, Lourdes R. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Riera, Casandra (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Padilla, Natàlia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; de la Cruz, Xavier (Institució Catalana de Recerca i Estudis Avançats (ICREA)) ; Couce, Mari Luz (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Martin-Hernández, Elena (Hospital Universitario 12 de Octubre (Madrid)) ; Morais, Ana (Hospital Universitario La Paz (Madrid)) ; Pedrón, Consuelo (Hospital Universitario Niño Jesús) ; Peña-Quintana, Luis (Universidad de Las Palmas de Gran Canaria) ; Rigoldi, Miriam (Center for Rare Disorders, ASST- Monza, Ospedale San Gerardo) ; Specola, Norma (Unidad de Metabolismo Hospital de Niños de La Plata (La Plata, Argentina)) ; de Almeida, Isabel Tavares (Metabolic Diseases Unit (Lisboa, Portugal)) ; Vives, Inmaculada (Hospital Universitario Virgen de la Arrixaca (Múrcia)) ; Yahyaoui, Raquel (Instituto de Investigación Biomédica de Málaga (IBIMA)) ; Rodríguez-Pombo, Pilar (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Ugarte, Magdalena (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Pérez-Cerda, Celia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Merinero, Begoña (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Pérez, Belén (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Universitat Autònoma de Barcelona
Cellular cobalamin defects are a locus and allelic heterogeneous disorder. The gold standard for coming to genetic diagnoses of cobalamin defects has for some time been gene-by-gene Sanger sequencing of individual DNA fragments. [...]
2018 - 10.1186/s13023-018-0862-y
Orphanet Journal of Rare Diseases, Vol. 13 (july 2018)  
4.
30 p, 1.7 MB Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH) deficiencies / Opladen, Thomas (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ; López-Laso, Eduardo (Hospital Universitario Reina Sofía (Córdoba, Espanya)) ; Cortès-Saladelafont, Elisenda (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Pearson, Toni S. (Washington University School of Medicine. Department of Neurology) ; Sivri, H. Serap (Hacettepe University, Faculty of Medicine. Department of Pediatrics, Section of Metabolism) ; Yildiz, Yilmaz (Hacettepe University, Faculty of Medicine. Department of Pediatrics, Section of Metabolism) ; Assmann, Birgit (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ; Kurian, Manju A. (Great Ormond Street Hospital. Department of Neurology) ; Leuzzi, Vincenzo (Sapienza University of Rome. Unit of Child Neurology and Psychiatry, Department of Human Neuroscience) ; Heales, Simon (National Hospital. Neurometabolic Unit) ; Pope, Simon (National Hospital. Neurometabolic Unit) ; Porta, Francesco (AOU Città della Salute e della Scienza. Department of Pediatrics) ; García-Cazorla, Angeles (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Honzík, Tomáš (Charles University and General University Hospital in Prague. Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine) ; Pons, Roser (Aghia Sofia Hospital. First Department of Pediatrics of the University of Athens) ; Regal, Luc (UZ Brussel. Department of Pediatric, Pediatric Neurology and Metabolism Unit) ; Goez, Helly (University of Alberta Glenrose Rehabilitation Hospital. Department of Pediatrics) ; Artuch, Rafael (Institut de Recerca Sant Joan de Déu) ; Hoffmann, Georg F. (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ; Horvath, Gabriella (University of British Columbia. Department of Pediatrics, Division of Biochemical Genetics, BC Children's Hospital) ; Thöny, Beat (University Children's Hospital Zurich. Division of Metabolism) ; Scholl-Bürgi, Sabine (Medical University of Innsbruck. Clinic for Pediatrics I) ; Burlina, Alberto (Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano. U.O.C. Malattie Metaboliche Ereditarie, Dipartimento della Salute della Donna e del Bambino) ; Verbeek, Marcel M. (Departments of Neurology and Laboratory Medicine, Alzheimer Centre, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands) ; Mastrangelo, Mario (Sapienza University of Rome. Unit of Child Neurology and Psychiatry, Department of Human Neuroscience) ; Friedman, Jennifer (Rady Children's Hospital Division of Neurology; Rady Children's Institute for Genomic Medicine. UCSD Departments of Neuroscience and Pediatrics) ; Wassenberg, Tessa (UZ Brussel. Department of Pediatric, Pediatric Neurology and Metabolism Unit) ; Jeltsch, Kathrin (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ; Kulhánek, Jan (Charles University and General University Hospital in Prague. Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine) ; Kuseyri Hübschmann, Oya (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ; Universitat Autònoma de Barcelona
Tetrahydrobiopterin (BH) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH biosynthesis or recycling. [...]
2020 - 10.1186/s13023-020-01379-8
Orphanet Journal of Rare Diseases, Vol. 15 (may 2020)  
5.
12 p, 3.3 MB Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes / Arias-Salgado, E.G. (Advanced Medical Projects) ; Galvez, E. (Hospital Niño Jesús. Hematología y Hemoterapia) ; Planas-Cerezales, L. (Institut d'Investigació Biomèdica de Bellvitge) ; Pintado-Berninches, L. (Advanced Medical Projects) ; Vallespin, E. (Hospital Universitario La Paz (Madrid)) ; Martinez, P. (Hospital Universitario La Paz (Madrid)) ; Carrillo, J. (nstituto de Investigaciones Biomédicas "Alberto Sols") ; Iarriccio, L. (Advanced Medical Projects) ; Ruiz-Llobet, A. (Institut de Recerca Sant Joan de Déu) ; Catalá, A. (Institut de Recerca Sant Joan de Déu) ; Badell Serra, Isabel (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública) ; Gonzalez-Granado, L.I. (Hospital Universitario 12 de Octubre (Madrid)) ; Martín-Nalda, A. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martínez-Gallo, M. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Galera-Miñarro, A. (Hospital Universitario Virgen de la Arrixaca (Múrcia)) ; Rodríguez-Vigil, C. (Hospital Miguel Servet) ; Bastos-Oreiro, M. (Hospital General Universitario Gregorio Marañón. Instituto de Investigación Sanitaria Gregorio Marañón (IiSGM)) ; Perez De Nanclares, G. (Molecular (Epi)Genetics Laboratory. BioAraba National Health Institute. OSI Araba University Hospital) ; Leiro-Fernández, V. (Pneumology Department. Hospital Álvaro Cunqueiro. Complexo Hospitalario Universitario de Vigo. NeumoVigoI+i Research Group. Vigo Biomedical Research Institute (IBIV)) ; Uria, M.L. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Diaz-Heredia, C. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Valenzuela, Claudia (Hospital Universitario de la Princesa (Madrid)) ; Martín, S. (Institut d'Investigació Biomèdica de Bellvitge) ; López-Muñiz, B. (Hospital Infanta Leonor) ; Lapunzina, P. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Sevilla, J. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Molina-Molina, M. (CIBER of Respiratory Diseases (CIBERES)) ; Perona, R. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Sastre, L. (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Background: Telomeres are nucleoprotein structures present at the terminal region of the chromosomes. Mutations in genes coding for proteins involved in telomere maintenance are causative of a number of disorders known as telomeropathies. [...]
2019 - 10.1186/s13023-019-1046-0
Orphanet Journal of Rare Diseases, Vol. 14 Núm. 1 (17 2019) , p. 82  
6.
Natural history of patients with venous thromboembolism and hereditary hemorrhagic telangiectasia. Findings from the RIETE registry / Riera-Mestre, Antoni (Hospital Universitari de Bellvitge) ; Mora-Luján, José María (Hospital Universitari de Bellvitge) ; Trujillo-Santos, Javier (Hospital General Universitario Santa Lucía, Cartagena) ; Del Toro, Jorge (Hospital General Universitario Gregorio Marañón, Madrid) ; Nieto, José Antonio (Hospital General Virgen De La Luz, Cuenca) ; Pedrajas, José María (Hospital Clínico San Carlos, Madrid) ; López-Reyes, Raquel (Hospital Universitari i Politècnic La Fe, Valencia,) ; Soler, Silvia (Fundació Hospital d’Olot i Comarcal de la Garrotxa) ; Ballaz, Aitor (Hospital De Galdakao) ; Cerdà, Pau (Hospital Universitari de Bellvitge) ; Monreal, Manel (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Background: Limited data exist about the clinical presentation, ideal therapy and outcomes of patients with hereditary hemorrhagic telangiectasia (HHT) who develop venous thromboembolism (VTE). Methods: We used the data in the RIETE Registry to assess the clinical characteristics, therapeutic approaches and clinical outcomes during the course of anticoagulant therapy in patients with HHT according to initial presentation as pulmonary embolism (PE) or deep venous thrombosis (DVT). [...]
2019 - 10.1186/s13023-019-1172-8
Orphanet Journal of Rare Diseases, Vol. 14 Núm. 1 (september 2019) , p. 196  
7.
10 p, 808.5 KB A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex : A Delphi consensus report / Auvin, S. (INSERM U1141) ; Bissler, J.J. (St. Jude Children's Research Hospital. Le Bonheur Children's Hospital) ; Cottin, V. (Claude Bernard University of Lyon 1. Reference Center for Rare Pulmonary Diseases. Louis Pradel Hospital. UMR754) ; Fujimoto, A. (Seirei Hamamatsu General Hospital) ; Hofbauer, G.F.L. (University Hospital Zurich) ; Jansen, A.C. (UZ Brussel. Vrije Universiteit Brussel) ; Jóźwiak, S. (Department of Neurology and Epileptology. Children's Memorial Health Institute) ; Kerecuk, L. (Birmingham Women's and Children's NHS Foundation Trust) ; Kingswood, J.C. (St Georges Hospital) ; Moavero, R. (Bambino Gesù Children's Hospital. IRCCS) ; Torra, R. (Institut d'Investigació Biomèdica Sant Pau) ; Villanueva, V. (Hospital Universitari i Politècnic La Fe de Valencia) ; Universitat Autònoma de Barcelona
Background: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder associated with mutations in TSC1 and TSC2 genes, upregulation of mammalian target of rapamycin signaling, and subsequent tumor formation in various organs. [...]
2019 - 10.1186/s13023-019-1072-y
Orphanet Journal of Rare Diseases, Vol. 14 Núm. 1 (30 2019) , p. 91  
8.
9 p, 899.9 KB Implementing reflective multicriteria decision analysis (MCDA) to assess orphan drugs value in the Catalan Health Service (CatSalut) / Guarga, Laura (Àrea Del Medicament. Servei Català de la Salut (CatSalut)) ; Badia, Xavier (Omakase Consulting S.L.) ; Obach, Mercè (Àrea Del Medicament. Servei Català de la Salut (CatSalut)) ; Fontanet, Manel (Universitat Autònoma de Barcelona. Departament de Farmacologia, de Terapèutica i de Toxicologia) ; Prat, Alba (Àrea Del Medicament. Servei Català de la Salut (CatSalut)) ; Vallano, Antonio (Àrea Del Medicament. Servei Català de la Salut (CatSalut)) ; Torrent, Josep (Àrea Del Medicament. Servei Català de la Salut (CatSalut)) ; Pontes García, Caridad (Universitat Autònoma de Barcelona. Departament de Farmacologia, de Terapèutica i de Toxicologia)
Background: Orphan medicines show some characteristics that hinder the evaluation of their clinical added value. The often low level of evidence available for orphan drugs, together with a high budget impact and an incremental cost-effectiveness ratio many times higher than drugs used for non-orphan diseases, represent challenges in their appraisal and effective access to clinical use. [...]
2019 - 10.1186/s13023-019-1121-6
Orphanet Journal of Rare Diseases, Vol. 14 Núm. 1 (27 2019) , p. 157  
9.
16 p, 3.0 MB Lack of a synergistic effect of a non-viral ALS gene therapy based on BDNF and a TTC fusion molecule / Calvo, Ana Cristina (Universidad de Zaragoza. Laboratorio de Genética Bioquímica. Instituto Aragonés de Ciencias de la Salud) ; Moreno Igoa, María (Universidad de Zaragoza. Laboratorio de Genética Bioquímica. Instituto Aragonés de Ciencias de la Salud) ; Mancuso, Renzo (Universitat Autònoma de Barcelona. Institut de Neurociències) ; Manzano García, Raquel (Universidad de Zaragoza. Laboratorio de Genética Bioquímica. Instituto Aragonés de Ciencias de la Salud) ; Oliván, Sara (Universidad de Zaragoza. Laboratorio de Genética Bioquímica. Instituto Aragonés de Ciencias de la Salud) ; Muñoz, María J. (Universidad de Zaragoza. Laboratorio de Genética Bioquímica. Instituto Aragonés de Ciencias de la Salud) ; Penas Pérez, Clara (Universitat Autònoma de Barcelona. Institut de Neurociències) ; Zaragoza, Pilar (Universidad de Zaragoza. Laboratorio de Genética Bioquímica. Instituto Aragonés de Ciencias de la Salud) ; Navarro, Xavier (Xavier) (Universitat Autònoma de Barcelona. Institut de Neurociències) ; Osta, Rosario (Universidad de Zaragoza. Laboratorio de Genética Bioquímica. Instituto Aragonés de Ciencias de la Salud)
Background: Amyotrophic lateral sclerosis (ALS) is one of the most devastating neurodegenerative diseases. Neurotrophic factors have been widely tested to counteract neurodegenerative conditions, despite their unspecific neuronal access. [...]
2011 - 10.1186/1750-1172-6-10
Orphanet Journal of Rare Diseases, Vol. 6, Núm. 1 (2011) , p. 10  
10.
8 p, 1.3 MB Hypermanganesemia due to mutations in SLC39A14 : further insights into Mn deposition in the central nervous system / Marti-Sanchez, L. ; Ortigoza-Escobar, J. D. (Barcelona, Spain) ; Darling, A. (Barcelona, Spain) ; Villaronga, M. (Barcelona, Spain) ; Baide, H. (Barcelona, Spain) ; Molero-Luis, M. (Barcelona, Spain) ; Batllori, M. (Barcelona, Spain) ; Vanegas, M. I. (Barcelona, Spain) ; Muchart, J. (Barcelona, Spain) ; Aquino, L. (Barcelona, Spain) ; Artuch, R. (Barcelona, Spain) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Kurian, M. A. (London, UK) ; Dueñas, Pérez (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
The SLC39A14, SLC30A10 and SLC39A8 are considered to be key genes involved in manganese (Mn) homeostasis in humans. Mn levels in plasma and urine are useful tools for early recognition of these disorders. [...]
2018 - 10.1186/s13023-018-0758-x
Orphanet Journal of Rare Diseases, Vol. 13 (january 2018)  

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