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Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.

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Title: Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
Authors: Manzoni E; Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna 40138, Italy.; IRCCS Istituto delle Scienze Neurologiche, UO Neuropsichiatria dell'età Pediatrica di Bologna, Bologna 40124, Italy., Carli S; Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna 40138, Italy., Gaignard P; Department of Biochemistry, Bicêtre Hospital, Reference Center for Mitochondrial Disease, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Paris 94275, France., Schlieben LD; School of Medicine, Institute of Human Genetics, Technical University of Munich, Munich, 80333  Germany.; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg 80333, Germany., Hirano M; H. Houston Merritt Neuromuscular Research Center, Department of Neurology, Columbia University Irving Medical Center, New York, NY 10033, USA., Ronchi D; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan 20122, Italy., Gonzales E; Pediatric Hepatology and Pediatric Liver Transplantation Unit, Bicêtre Hospital, Reference Center for Mitochondrial Disease, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Paris 94270, France., Shimura M; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba 260-0842, Japan., Murayama K; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba 260-0842, Japan.; Diagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo 113-8421, Japan., Okazaki Y; Diagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo 113-8421, Japan., Barić I; Department of Pediatrics, University Hospital Centre Zagreb and University of Zagreb, School of Medicine, Zagreb 10000, Croatia., Petkovic Ramadza D; Department of Pediatrics, University Hospital Centre Zagreb and University of Zagreb, School of Medicine, Zagreb 10000, Croatia., Karall D; Clinic for Pediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria., Mayr J; University Children's Hospital, Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Martinelli D; Division of Metabolism, Bambino Gesù Children's Hospital IRCCS, Rome 00165, Italy., La Morgia C; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40123, Italy.; IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna 40124, Italy., Primiano G; Dipartimento di Neuroscienze, Organi di Senso e Torace -Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome 00136, Italy.; Dipartimento Di Neuroscienze, Università Cattolica del Sacro Cuore, Rome 00168, Italy., Santer R; Department of Pediatrics, University Medical Center Eppendorf, Hamburg 20246, Germany., Servidei S; Dipartimento di Neuroscienze, Organi di Senso e Torace -Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome 00136, Italy.; Dipartimento Di Neuroscienze, Università Cattolica del Sacro Cuore, Rome 00168, Italy., Bris C; University Angers, Angers Hospital, INSERM, CNRS, MITOVASC, SFR ICAT, Angers F-49000, France., Cano A; Centre de référence des maladies héréditaires du métabolisme, CHU la Timone Enfants, Marseille 13005, France., Furlan F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Regional Clinical Center for Expanded Newborn Screening, Milan 20122, Italy., Gasperini S; Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy., Laborde N; Unité de Gastroentérologie, Hépatologie, Nutrition et Maladies Héréditaires du Métabolisme, Hôpital des Enfants, CHU de Toulouse, Toulouse 31300, France., Lamperti C; Division of Medical Genetics and Neurogenetics, Fondazione IRCCS Neurological Institute 'C. Besta', Milan 20133, Italy., Lenz D; Division of Neuropaediatrics and Paediatric Metabolic Medicine, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg 69120, Germany., Mancuso M; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa & AOUP, Pisa 56126, Italy., Montano V; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa & AOUP, Pisa 56126, Italy., Menni F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Regional Clinical Center for Expanded Newborn Screening, Milan 20122, Italy., Musumeci O; Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina 98125, Italy., Nesbitt V; Department of Paediatrics, Medical Sciences Division, Oxford University, Oxford OX3 9DU, UK., Procopio E; Metabolic Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy., Rouzier C; Centre de référence des Maladies Mitochondriales, Service de Génétique Médicale, CHU de Nice, Université Côte d'Azur, CNRS, INSERM, IRCAN, Nice 06000, France., Staufner C; Division of Neuropaediatrics and Paediatric Metabolic Medicine, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg 69120, Germany., Taanman JW; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Tal G; Metabolic Clinic, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa 3109601, Israel.; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 3109601, Israel., Ticci C; Metabolic Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy., Cordelli DM; Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna 40138, Italy.; IRCCS Istituto delle Scienze Neurologiche, UO Neuropsichiatria dell'età Pediatrica di Bologna, Bologna 40124, Italy., Carelli V; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40123, Italy.; IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna 40124, Italy., Procaccio V; University Angers, Angers Hospital, INSERM, CNRS, MITOVASC, SFR ICAT, Angers F-49000, France., Prokisch H; School of Medicine, Institute of Human Genetics, Technical University of Munich, Munich, 80333  Germany.; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg 80333, Germany., Garone C; Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna 40138, Italy.; IRCCS Istituto delle Scienze Neurologiche, UO Neuropsichiatria dell'età Pediatrica di Bologna, Bologna 40124, Italy.
Source: Brain communications [Brain Commun] 2024 May 06; Vol. 6 (3), pp. fcae160. Date of Electronic Publication: 2024 May 06 (Print Publication: 2024).
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
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