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9 p, 1.7 MB |
Live donor kidney transplantation. Situation analysis and roadmap Trasplante renal de donante vivo. Análisis de situación y hoja de ruta
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Valentín, M.d.l.O. (Organización Nacional de Trasplantes) ;
Hernández, D. (Hospital Regional U. de Málaga) ;
Crespo, Marta (Hospital del Mar (Barcelona, Catalunya)) ;
Mahillo, B. (Organización Nacional de Trasplantes) ;
Beneyto, I. (Hospital Universitari i Politècnic La Fe (València)) ;
Martínez, I. (Organización Nacional de Trasplantes) ;
Kanter, J. (Hospital U. Doctor Peset) ;
Calderari, E. (Organización Nacional de Trasplantes) ;
Gil-Vernet, S. (Hospital U. de Bellvitge) ;
Sánchez, S. (Organización Nacional de Trasplantes) ;
Agüera, M.L. (H.U. Reina Sofía) ;
Bernal, G. (H.U. Virgen del Rocío) ;
de Santiago, C. (H. General U. d'Alacant) ;
Díaz-Corte, C. (H.U. Central de Asturias) ;
Díaz, C. (H. Clínico U. de Santiago) ;
Espinosa, L. (H.U. La Paz infantil) ;
Facundo, Carme (Institut d'Investigació Biomèdica Sant Pau) ;
Fernández-Lucas, M. (H.U. Ramón y Cajal) ;
Ferreiro, T. (Complejo H.U. de A Coruña) ;
García-Erauzkin, G. (Hospital de Cruces (Barakaldo, Biscaia)) ;
García-Alvarez, T. (H.U. Puerta del Mar) ;
Fraile, P. (Complejo H.U. de Salamanca) ;
González-Rinne, A. (H.U. de Canarias) ;
González-Soriano, M.J. (H.U. Virgen de la Arrixaca) ;
González, E. (H.U. 12 de Octubre) ;
Gutiérrez-Dalmau, A. (H.U. Miguel Servet) ;
Jiménez, C. (H.U. La Paz) ;
Lauzurica, Ricardo (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Lorenzo, I. (H. General U. de Albacete) ;
Martín-Moreno, P.L. (Clínica Universidad de Navarra) ;
Moreso, Francesc (Hospital Universitari Vall d'Hebron) ;
de Gracia, M.C. (H.U. Virgen de las Nieves) ;
Pérez-Flores, I. (H.U. Clínico San Carlos) ;
Ramos-Verde, A. (Hospital Universitario Fundación Jiménez Díaz) ;
Revuelta, Ignacio (Hospital Clínic i Provincial de Barcelona) ;
Rodríguez-Ferrero, M.L. (H.U. Gregorio Marañón) ;
Ruiz, J. C. (H.U. Marqués de Valdecilla) ;
Sánchez-Sobrino, B. (H.U. Puerta de Hierro) ;
Domínguez-Gil, B. (Organización Nacional de Trasplantes) ;
Universitat Autònoma de Barcelona
Living donor kidney transplantation (LDKT) is the best treatment option for end stage renal disease in terms of both patient and graft survival. However, figures on LDKT in Spain that had been continuously growing from 2005 to 2014, have experienced a continuous decrease in the last five years. [...]
2022 -  10.1016/j.nefro.2021.03.008
Nefrología (Madrid), Vol. 42 Núm. 1 (enero 2022) , p. 85-93
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10 p, 1.3 MB |
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
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Hochberg, Irit (Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa) ;
Demain, Leigh A. M. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Richer, Julie (Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa) ;
Thompson, Kyle (Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University) ;
Urquhart, Jill E. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Rea, Alessandro (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Pagarkar, Waheeda (Royal National ENT and Eastman Dental Hospital, University College London Hospitals) ;
Rodríguez-Palmero, Agustí (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Schlüter, Agatha (Institut d'Investigació Biomèdica de Bellvitge) ;
Verdura, Edgard (Institut d'Investigació Biomèdica de Bellvitge) ;
Pujol, Aurora 1968- (Institut d'Investigació Biomèdica de Bellvitge) ;
Quijada-Fraile, Pilar (Hospital Universitario 12 de Octubre (Madrid)) ;
Amberger, Albert (Institute of Human Genetics, Medical University Innsbruck) ;
Deutschmann, Andrea J. (Institute of Human Genetics, Medical University Innsbruck) ;
Demetz, Sandra (Institute of Human Genetics, Medical University Innsbruck) ;
Gillespie, Meredith (Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa) ;
Belyantseva, Inna A. (Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD) ;
McMillan, Hugh J. (Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa) ;
Barzik, Melanie (Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD) ;
Beaman, Glenda M. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Motha, Reeya (The Royal London Hospital) ;
Ng, Kah Ying (Institute of Biotechnology, University of Helsinki) ;
O'Sullivan, James (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Williams, Simon G. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Bhaskar, Sanjeev S. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Lawrence, Isabella R. (Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University) ;
Jenkinson, Emma M. (Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester) ;
Zambonin, Jessica L. (Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa) ;
Blumenfeld, Zeev (Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa) ;
Yalonetsky, Sergey (Department of Pediatric Cardiology, Rambam Health Care Campus, Haifa) ;
Oerum, Stephanie (Newcastle MX Structural Biology Laboratory, Newcastle University) ;
Rossmanith, Walter (Center for Anatomy and Cell Biology, Medical University of Vienna) ;
Yue, Wyatt W. (Newcastle MX Structural Biology Laboratory, Newcastle University) ;
Zschocke, Johannes (Institute of Human Genetics, Medical University Innsbruck) ;
Munro, Kevin J. (Manchester University NHS Foundation Trust) ;
Battersby, Brendan J. (Institute of Biotechnology, University of Helsinki) ;
Friedman, Thomas B. (Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD) ;
Taylor, Robert W. (Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University) ;
O'Keefe, Raymond T. (Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester) ;
Newman, William G. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust)
Human mitochondrial RNase P (mt-RNase P) is responsible for 5' end processing of mitochondrial precursor tRNAs, a vital step in mitochondrial RNA maturation, and is comprised of three protein subunits: TRMT10C, SDR5C1 (HSD10), and PRORP. [...]
2021 - 10.1016/j.ajhg.2021.10.002
American Journal of Human Genetics, Vol. 108 (november 2021) , p. 2195-2204
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14 p, 413.1 KB |
Urea cycle disorders in Spain : an observational, cross-sectional and multicentric study of 104 cases
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Martín-Hernández, Elena (Hospital Universitario 12 de Octubre (Madrid)) ;
Aldámiz-Echevarría, Luis (Hospital Universitario de Cruces (Barakaldo, País Basc)) ;
Castejón-Ponce, Esperanza (H. Sant Joan de Déu) ;
Pedrón-Giner, Consuelo (H.U. Infantil del Niño Jesús) ;
Couce, Maria Luz (C.H.U. de Santiago) ;
Serrano-Nieto, Juliana (H. Materno Infantil Carlos Haya) ;
Pintos-Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Bélanger-Quintana, Amaya (H.U. Ramón y Cajal) ;
Martínez-Pardo, Mercedes (H.U. Ramón y Cajal) ;
García-Silva, María Teresa (Hospital Universitario 12 de Octubre (Madrid)) ;
Quijada-Fraile, Pilar (Hospital Universitario 12 de Octubre (Madrid)) ;
Vitoria-Miñana, Isidro (H. Infantil La Fe) ;
Dalmau, Jaime (H. Infantil La Fe) ;
Lama-More, Rosa A. (Hospital Universitario La Paz (Madrid)) ;
Bueno-Delgado, María Amor (H.U. Virgen del Rocío) ;
del Toro-Riera, Mirella (Hospital Universitari Vall d'Hebron) ;
García Jiménez, Inmaculada (H.U. Miguel Servet) ;
Sierra-Córcoles, Concepción (C.H. de Jaén) ;
Ruiz-Pons, Mónica (H.U. Ntra. Sra. de la Candelaria) ;
Peña-Quintana, Luis J. (H.U. Materno Infantil de Las Palmas) ;
Vives-Piñera, Inmaculada (H.C.U. Virgen de la Arrixaca) ;
Moráis, Ana (Hospital Universitario La Paz (Madrid)) ;
Balmaseda-Serrano, Elena (Complejo Hospitalario Universitario de Albacete) ;
Meavilla, Silvia (Hospital Sant Joan de Déu (Manresa)) ;
Sanjurjo-Crespo, Pablo (H.U. de Cruces, Bilbao) ;
Pérez-Cerdá, Celia (Universidad Autónoma de Madrid. Centro de Diagnostico de Enfermedades Moleculares-CEDEM) ;
Universitat Autònoma de Barcelona
Advances in the diagnosis and treatment of urea cycle disorders (UCDs) have led to a higher survival rate. The purpose of this study is to describe the characteristics of patients with urea cycle disorders in Spain. [...]
2014 - 10.1186/s13023-014-0187-4
Orphanet Journal of Rare Diseases, Vol. 9 (november 2014)
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