Zobrazeno 1 - 10
of 17 277
pro vyhledávání: '"fabry disease"'
Autor:
Higuchi T; Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Tokyo 1058461, Japan. Electronic address: tahiguchi@jikei.ac.jp., Shimada Y; Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Tokyo 1058461, Japan. Electronic address: yshimada@jikei.ac.jp., Takahashi Y; Division of Neuroscience, Research Center for Medical Sciences, The Jikei University School of Medicine, Tokyo 1058461, Japan. Electronic address: yukaritakahashi@jikei.ac.jp., Kato F; Division of Neuroscience, Research Center for Medical Sciences, The Jikei University School of Medicine, Tokyo 1058461, Japan. Electronic address: fusao@jikei.ac.jp., Ohashi T; Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Tokyo 1058461, Japan; Department of Human Health Science and Therapeutics, The Jikei University School of Nursing, Tokyo 1828570, Japan. Electronic address: tohashi@jikei.ac.jp., Kobayashi H; Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Tokyo 1058461, Japan. Electronic address: hrkb@jikei.ac.jp.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108545. Date of Electronic Publication: 2024 Jul 27.
Autor:
Rinaldi M; Department of Neuroscience, Reproductive and Dentistry Sciences, Federico II University of Naples, Naples, Italy., Chiosi F; Department of Ophthalmology, Azienda Ospedaliera dei Colli, Monaldi Hospital, Napoli, Italy. flaviachiosi@yahoo.it.; Ophthalmolgy Department, Azienda Ospedaliera dei Colli, Monaldi Hospital, Via Leonardo Bianchi, Napoli, 8013, Italy. flaviachiosi@yahoo.it., Passaro ML; Department of Neuroscience, Reproductive and Dentistry Sciences, Federico II University of Naples, Naples, Italy.; Department of Medicine and Health Sciences 'V.Tiberio', University of Molise, Campobasso, Italy., Natale F; Department of Cardiothoracic Sciences, University of Campania 'Luigi Vanvitelli', Monaldi Hospital, Napoli, Italy., Riccardo A; Department of Neuroscience, Reproductive and Dentistry Sciences, Federico II University of Naples, Naples, Italy., D'Andrea L; Department of Neuroscience, Reproductive and Dentistry Sciences, Federico II University of Naples, Naples, Italy., Caiazza M; Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Monaldi Hospital, Naples, 80131, Italy., Rubino M; Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Monaldi Hospital, Naples, 80131, Italy., Monda E; Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Monaldi Hospital, Naples, 80131, Italy., Cennamo G; Department of Neuroscience, Reproductive and Dentistry Sciences, Federico II University of Naples, Naples, Italy., Calabrò F; Department of Ophthalmology, Azienda Ospedaliera dei Colli, Monaldi Hospital, Napoli, Italy., Limongelli G; Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Monaldi Hospital, Naples, 80131, Italy., Costagliola C; Department of Neuroscience, Reproductive and Dentistry Sciences, Federico II University of Naples, Naples, Italy.
Publikováno v:
Scientific reports [Sci Rep] 2024 Oct 14; Vol. 14 (1), pp. 24047. Date of Electronic Publication: 2024 Oct 14.
Autor:
Ponleitner M; Department of Neurology, Medical University of Vienna, Währinger Gürtel 18-20, 1090, Vienna, Austria. markus.ponleitner@meduniwien.ac.at.; Comprehensive Center for Clinical Neurosciences and Mental Health, Medical University of Vienna, Vienna, Austria. markus.ponleitner@meduniwien.ac.at., Gatterer C; Division of Cardiology, Department of Medicine II, Medical University of Vienna, Vienna, Austria., Bsteh G; Department of Neurology, Medical University of Vienna, Währinger Gürtel 18-20, 1090, Vienna, Austria.; Comprehensive Center for Clinical Neurosciences and Mental Health, Medical University of Vienna, Vienna, Austria., Rath J; Department of Neurology, Medical University of Vienna, Währinger Gürtel 18-20, 1090, Vienna, Austria.; Comprehensive Center for Clinical Neurosciences and Mental Health, Medical University of Vienna, Vienna, Austria., Altmann P; Department of Neurology, Medical University of Vienna, Währinger Gürtel 18-20, 1090, Vienna, Austria.; Comprehensive Center for Clinical Neurosciences and Mental Health, Medical University of Vienna, Vienna, Austria., Berger T; Department of Neurology, Medical University of Vienna, Währinger Gürtel 18-20, 1090, Vienna, Austria.; Comprehensive Center for Clinical Neurosciences and Mental Health, Medical University of Vienna, Vienna, Austria., Graf S; Division of Cardiology, Department of Medicine II, Medical University of Vienna, Vienna, Austria., Sunder-Plassmann G; Division of Nephrology and Dialysis, Department of Medicine III, Medical University of Vienna, Vienna, Austria., Rommer PS; Department of Neurology, Medical University of Vienna, Währinger Gürtel 18-20, 1090, Vienna, Austria.; Comprehensive Center for Clinical Neurosciences and Mental Health, Medical University of Vienna, Vienna, Austria.
Publikováno v:
Scientific reports [Sci Rep] 2024 Oct 03; Vol. 14 (1), pp. 23033. Date of Electronic Publication: 2024 Oct 03.
Autor:
Shin YJ; Transplantation Research Center, College of Medicine, The Catholic University of Korea, Seoul, South Korea., Chae SY; Division of Nephrology, Department of Internal Medicine, Seoul St. Mary's Hospital, The College of Medicine, The Catholic University of Korea, South Korea., Lee H; Transplantation Research Center, College of Medicine, The Catholic University of Korea, Seoul, South Korea; Division of Nephrology, Department of Internal Medicine, Seoul St. Mary's Hospital, The College of Medicine, The Catholic University of Korea, South Korea., Fang X; Transplantation Research Center, College of Medicine, The Catholic University of Korea, Seoul, South Korea., Cui S; Transplantation Research Center, College of Medicine, The Catholic University of Korea, Seoul, South Korea., Lim SW; Transplantation Research Center, College of Medicine, The Catholic University of Korea, Seoul, South Korea., Lee KI; ToolGen, Inc., South Korea., Lee JY; ToolGen, Inc., South Korea., Li C; Department of Nephrology, Yanbian University Hospital, Yanji, China., Yang CW; Transplantation Research Center, College of Medicine, The Catholic University of Korea, Seoul, South Korea; Division of Nephrology, Department of Internal Medicine, Seoul St. Mary's Hospital, The College of Medicine, The Catholic University of Korea, South Korea., Chung BH; Transplantation Research Center, College of Medicine, The Catholic University of Korea, Seoul, South Korea; Division of Nephrology, Department of Internal Medicine, Seoul St. Mary's Hospital, The College of Medicine, The Catholic University of Korea, South Korea. Electronic address: chungbh@catholic.ac.kr.
Publikováno v:
Atherosclerosis [Atherosclerosis] 2024 Oct; Vol. 397, pp. 118549. Date of Electronic Publication: 2024 Aug 02.
Autor:
Ditaranto R; Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy (R.D., M.G., E.B.).; European Reference Network for Rare, Low Prevence and Complex Diseases of the Heart-ERN GUARD-Heart (R.D., M.G., E.B.)., Chiti C; Cardiomyopathy Unit (C.C., F.C.), Careggi University Hospital, Florence, Italy., Milandri A; Cardiology Unit, Bentivoglio Hospital, Bologna, Italy (A.M., F.L.)., Lai F; Cardiology Unit, Bentivoglio Hospital, Bologna, Italy (A.M., F.L.)., Lovato L; Cardio-thoracic Radiology, St. Orsola Hospital, IRCCS Azienda Ospedaliero- Universitaria di Bologna, Italy (L.L.)., Graziosi M; Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy (R.D., M.G., E.B.).; European Reference Network for Rare, Low Prevence and Complex Diseases of the Heart-ERN GUARD-Heart (R.D., M.G., E.B.)., Graziani F; Department of Cardiovascular Medicine, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy (F.G.)., Pieroni M; Cardiovascular Department, San Donato Hospital, Arezzo, Italy (M.P.)., Cappelli F; Cardiomyopathy Unit (C.C., F.C.), Careggi University Hospital, Florence, Italy., Limongelli G; Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli,' Monaldi Hospital, Naples, Italy (G.L.)., Olivotto I; Department of Experimental and Clinical Medicine (I.O.), Careggi University Hospital, Florence, Italy.; Pediatric Cardiology, Meyer Children's University Hospital IRCCS, Florence, Italy (I.O.)., Biagini E; Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy (R.D., M.G., E.B.).; European Reference Network for Rare, Low Prevence and Complex Diseases of the Heart-ERN GUARD-Heart (R.D., M.G., E.B.).
Publikováno v:
Circulation. Cardiovascular imaging [Circ Cardiovasc Imaging] 2024 Oct; Vol. 17 (10), pp. e016865. Date of Electronic Publication: 2024 Jul 12.
Autor:
Rodríguez-Castejón J; Pharmacokinetic, Nanotechnology and Gene Therapy Group (PharmaNanoGene), Faculty of Pharmacy, Centro de Investigación Lascaray Ikergunea, University of the Basque Country, UPV/EHU, Paseo de la Universidad 7, Vitoria-Gasteiz, 01006, Spain.; Bioaraba, Microbiology, Infectious Disease, Antimicrobial Agents and Gene Therapy, Vitoria-Gasteiz, 01006, Spain., Beraza-Millor M; Pharmacokinetic, Nanotechnology and Gene Therapy Group (PharmaNanoGene), Faculty of Pharmacy, Centro de Investigación Lascaray Ikergunea, University of the Basque Country, UPV/EHU, Paseo de la Universidad 7, Vitoria-Gasteiz, 01006, Spain.; Bioaraba, Microbiology, Infectious Disease, Antimicrobial Agents and Gene Therapy, Vitoria-Gasteiz, 01006, Spain., Solinís MÁ; Pharmacokinetic, Nanotechnology and Gene Therapy Group (PharmaNanoGene), Faculty of Pharmacy, Centro de Investigación Lascaray Ikergunea, University of the Basque Country, UPV/EHU, Paseo de la Universidad 7, Vitoria-Gasteiz, 01006, Spain.; Bioaraba, Microbiology, Infectious Disease, Antimicrobial Agents and Gene Therapy, Vitoria-Gasteiz, 01006, Spain., Rodríguez-Gascón A; Pharmacokinetic, Nanotechnology and Gene Therapy Group (PharmaNanoGene), Faculty of Pharmacy, Centro de Investigación Lascaray Ikergunea, University of the Basque Country, UPV/EHU, Paseo de la Universidad 7, Vitoria-Gasteiz, 01006, Spain.; Bioaraba, Microbiology, Infectious Disease, Antimicrobial Agents and Gene Therapy, Vitoria-Gasteiz, 01006, Spain., Del Pozo-Rodríguez A; Pharmacokinetic, Nanotechnology and Gene Therapy Group (PharmaNanoGene), Faculty of Pharmacy, Centro de Investigación Lascaray Ikergunea, University of the Basque Country, UPV/EHU, Paseo de la Universidad 7, Vitoria-Gasteiz, 01006, Spain. ana.delpozo@ehu.eus.; Bioaraba, Microbiology, Infectious Disease, Antimicrobial Agents and Gene Therapy, Vitoria-Gasteiz, 01006, Spain. ana.delpozo@ehu.eus.
Publikováno v:
Drug delivery and translational research [Drug Deliv Transl Res] 2024 Oct; Vol. 14 (10), pp. 2615-2628. Date of Electronic Publication: 2024 Apr 08.
Autor:
Gervas-Arruga J; Takeda Development Center Americas Inc., Cambridge, MA 02142, USA., Barba-Romero MÁ; Department of Internal Medicine, Albacete University Hospital, 02006 Albacete, Spain.; Albacete Medical School, Castilla-La Mancha University, 02006 Albacete, Spain., Fernández-Martín JJ; Department of Internal Medicine, University Hospital Álvaro Cunqueiro, 36312 Vigo, Spain., Gómez-Cerezo JF; Department of Internal Medicine, Infanta Sofía University Hospital, 28702 Madrid, Spain.; Faculty of Medicine, European University of Madrid, 28670 Madrid, Spain., Segú-Vergés C; Anaxomics Biotech S.L., 08007 Barcelona, Spain., Ronzoni G; Takeda Farmacéutica España S.A., 28046 Madrid, Spain., Cebolla JJ; Takeda Farmacéutica España S.A., 28046 Madrid, Spain.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Sep 25; Vol. 25 (19). Date of Electronic Publication: 2024 Sep 25.
Autor:
Sens F; Service de Néphrologie et d'Explorations Fonctionnelles, Hôpital Edouard Herriot, Hospices Civils de Lyon, F-69003 Lyon, France.; UMR Inserm 1060, Université Claude Bernard Lyon 1, F-69621 Villeurbanne, France., Guittard L; Service Recherche et Epidémiologie Cliniques, Pôle Santé Publique, Hospices Civils de Lyon, F-69002 Lyon, France.; Research on Healthcare Performance (RESHAPE), Inserm U1290, Université Claude Bernard Lyon, F-69373 Lyon, France., Knebelmann B; Service de Néphrologie, Hôpital Necker, Assistance Publique Hôpitaux de Paris, Université de Paris, F-75015 Paris, France., Moranne O; Service Néphrologie-Dialyse-Apherese, Hôpital Universitaire Caremeau, IDESP Université de Montpellier, F-30029 Nîmes, France., Choukroun G; Service de Néphrologie, Médecine Interne, Dialyse et Transplantation, CHU Amiens, F-80054 Amiens, France., de Précigout V; Service de Néphrologie, Hôpital Pellegrin, CHU Bordeaux, F-33076 Bordeaux, France., Couchoud C; Coordination Nationale Réseau Epidémiologique et Information en Néphrologie, Agence de la Biomédecine, F-93212 Saint-Denis-La-Plaine, France., Deleruyelle I; Service Recherche et Epidémiologie Cliniques, Pôle Santé Publique, Hospices Civils de Lyon, F-69002 Lyon, France., Lancelot L; Service Recherche et Epidémiologie Cliniques, Pôle Santé Publique, Hospices Civils de Lyon, F-69002 Lyon, France., Tran Thi Phuong L; 'Geneo' Referral Center for Fabry Disease and Lysosomal Diseases, MetabERN European Reference Network, F-92380 Garches, France., Ghafari T; Division of Medical Genetics, APHP-Paris Saclay University, F-92380 Garches, France., Fabrydial Study Group, Juillard L; Service de Néphrologie et d'Explorations Fonctionnelles, Hôpital Edouard Herriot, Hospices Civils de Lyon, F-69003 Lyon, France.; UMR Inserm 1060, Université Claude Bernard Lyon 1, F-69621 Villeurbanne, France., Germain DP; 'Geneo' Referral Center for Fabry Disease and Lysosomal Diseases, MetabERN European Reference Network, F-92380 Garches, France.; Division of Medical Genetics, APHP-Paris Saclay University, F-92380 Garches, France.; Division of Medical Genetics, University of Versailles, F-78180 Montigny, France.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Sep 20; Vol. 25 (18). Date of Electronic Publication: 2024 Sep 20.
Unambiguous Interpretation of the Pathogenicity of the GLA c.547+3A>G Variant Causing Fabry Disease.
Autor:
Urtis M; Centre for Inherited Diseases, Department of Research, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy., Cavaliere C; Centre for Inherited Diseases, Department of Research, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy., Vilardo V; Centre for Inherited Diseases, Department of Research, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy., Paganini C; Centre for Inherited Diseases, Department of Research, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy., Smirnova A; Centre for Inherited Diseases, Department of Research, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy., Giorgianni C; Centre for Inherited Diseases, Department of Research, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy., Di Toro A; Centre for Inherited Diseases, Department of Research, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy., Chiapparini L; Neuroradiology Unit, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy., Pellegrini C; Clinical-Surgical, Diagnostic and Pediatric Sciences Department, University of Pavia, 27100 Pavia, Italy.; Division of Cardiac Surgery, Cardiotoracovascular Department, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy., Grasso M; Centre for Inherited Diseases, Department of Research, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy., Arbustini E; Centre for Inherited Diseases, Department of Research, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
Publikováno v:
Genes [Genes (Basel)] 2024 Sep 17; Vol. 15 (9). Date of Electronic Publication: 2024 Sep 17.
Autor:
Limongelli G; Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Monaldi Hospital, Naples 80131, Italy.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Naples 80131, Italy., Biagini E; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Naples 80131, Italy.; Cardiology Unit, IRCCS Azienda Ospedaliero-Universitaria of Bologna, Bologna 40100, Italy., Cappelli F; Cardiomyopathy Unit, Careggi University Hospital, University of Florence, Florence 50100, Italy., Graziani F; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Naples 80131, Italy.; Department of Cardiovascular Medicine, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome 00042, Italy., Monda E; Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Monaldi Hospital, Naples 80131, Italy.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Naples 80131, Italy., Olivotto I; Cardiology Unit, IRCCS Meyer Children's Hospital, Florence 50100, Italy., Parisi V; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Naples 80131, Italy.; Cardiology Unit, IRCCS Azienda Ospedaliero-Universitaria of Bologna, Bologna 40100, Italy., Pieroni M; Cardiovascular Department, San Donato Hospital, Via Pietro Nenni 22, Arezzo 52100, Italy., Rubino M; Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Monaldi Hospital, Naples 80131, Italy.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Naples 80131, Italy., Serratore S; Division of Cardiology, Cardiovascular Research Center, University Magna Graecia Catanzaro, Catanzaro 88100, Italy., Sinagra G; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Naples 80131, Italy.; Department of Medicine, Surgery and Health, University of Trieste, Trieste 34121, Italy., Indolfi C; Division of Cardiology, Cardiovascular Research Center, University Magna Graecia Catanzaro, Catanzaro 88100, Italy., Perrone Filardi P; Department of Advanced Biomedical Sciences, Federico II University of Naples, Naples 80131, Italy.
Publikováno v:
European heart journal. Quality of care & clinical outcomes [Eur Heart J Qual Care Clin Outcomes] 2024 Sep 13; Vol. 10 (6), pp. 483-487.