ArticleBrain communications2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
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Article in Brain communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9citing papers in PubMed
–field-weighted citation impact
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Who cites it
9 citing papers in PubMed.
- Current status in paediatric liver transplantation for inherited metabolic diseases.Journal of pediatric gastroenterology and nutrition · 2026Review
- Article
- Non-invasive biomarkers for diagnosis and monitoring of primary mitochondrial diseases.Journal of neurology · 2026Review
- Deoxyguanosine kinase deficiency couples purine metabolism to innate immune activation and lipid accumulation in hepatocytes.Frontiers in immunology · 2026Article
- Gene therapy and mRNA drugs approach for mitochondrial OXPHOS deficiencies.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Review
- The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives.Journal of inherited metabolic disease · 2025Review
- Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients.Journal of inherited metabolic disease · 2025Article
- Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8.Neurology · 2025Article
- Liver transplantation for mitochondrial DNA depletion syndrome caused byFrontiers in surgery · 2024Article
Corrections and comments
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Authors and funding
42 authors.
Eleonora ManzoniDepartment of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna 40138, Italy.
Sara CarliDepartment of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna 40138, Italy.ORCID https://orcid.org/0000-0001-8130-5364
Pauline GaignardDepartment of Biochemistry, Bicêtre Hospital, Reference Center for Mitochondrial Disease, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Paris 94275, France.
Lea Dewi SchliebenSchool of Medicine, Institute of Human Genetics, Technical University of Munich, Munich, 80333 Germany.
Michio HiranoH. Houston Merritt Neuromuscular Research Center, Department of Neurology, Columbia University Irving Medical Center, New York, NY 10033, USA.
Dario RonchiDino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan 20122, Italy.
Emmanuel GonzalesPediatric 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.
Masaru ShimuraCenter for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba 260-0842, Japan.
Kei MurayamaCenter for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba 260-0842, Japan.ORCID https://orcid.org/0000-0002-3923-8636
Yasushi OkazakiDiagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo 113-8421, Japan.
Ivo BarićDepartment of Pediatrics, University Hospital Centre Zagreb and University of Zagreb, School of Medicine, Zagreb 10000, Croatia.
Danijela Petkovic RamadzaDepartment of Pediatrics, University Hospital Centre Zagreb and University of Zagreb, School of Medicine, Zagreb 10000, Croatia.
Daniela KarallClinic for Pediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria.
Johannes MayrUniversity Children's Hospital, Paracelsus Medical University (PMU), 5020 Salzburg, Austria.
Diego MartinelliDivision of Metabolism, Bambino Gesù Children's Hospital IRCCS, Rome 00165, Italy.ORCID https://orcid.org/0000-0002-9324-2871
Chiara La MorgiaDepartment of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40123, Italy.
Guido PrimianoDipartimento di Neuroscienze, Organi di Senso e Torace -Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome 00136, Italy.ORCID https://orcid.org/0000-0001-7616-7008
René SanterDepartment of Pediatrics, University Medical Center Eppendorf, Hamburg 20246, Germany.
Serenella ServideiDipartimento di Neuroscienze, Organi di Senso e Torace -Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome 00136, Italy.
Céline BrisUniversity Angers, Angers Hospital, INSERM, CNRS, MITOVASC, SFR ICAT, Angers F-49000, France.
Aline CanoCentre de référence des maladies héréditaires du métabolisme, CHU la Timone Enfants, Marseille 13005, France.
Francesca FurlanFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Regional Clinical Center for Expanded Newborn Screening, Milan 20122, Italy.
Serena GasperiniDepartment of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy.
Nolwenn LabordeUnité de Gastroentérologie, Hépatologie, Nutrition et Maladies Héréditaires du Métabolisme, Hôpital des Enfants, CHU de Toulouse, Toulouse 31300, France.
Costanza LampertiDivision of Medical Genetics and Neurogenetics, Fondazione IRCCS Neurological Institute 'C. Besta', Milan 20133, Italy.
Dominic LenzDivision of Neuropaediatrics and Paediatric Metabolic Medicine, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg 69120, Germany.
Michelangelo MancusoDepartment of Clinical and Experimental Medicine, Neurological Institute, University of Pisa & AOUP, Pisa 56126, Italy.
Vincenzo MontanoDepartment of Clinical and Experimental Medicine, Neurological Institute, University of Pisa & AOUP, Pisa 56126, Italy.
Francesca MenniFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Regional Clinical Center for Expanded Newborn Screening, Milan 20122, Italy.
Olimpia MusumeciUnit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina 98125, Italy.
Victoria NesbittDepartment of Paediatrics, Medical Sciences Division, Oxford University, Oxford OX3 9DU, UK.
Elena ProcopioMetabolic Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy.
Cécile RouzierCentre de référence des Maladies Mitochondriales, Service de Génétique Médicale, CHU de Nice, Université Côte d'Azur, CNRS, INSERM, IRCAN, Nice 06000, France.ORCID https://orcid.org/0000-0002-2969-1904
Christian StaufnerDivision of Neuropaediatrics and Paediatric Metabolic Medicine, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg 69120, Germany.
Jan-Willem TaanmanDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.
Galit TalMetabolic Clinic, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa 3109601, Israel.
Chiara TicciMetabolic Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy.
Duccio Maria CordelliDepartment of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna 40138, Italy.
Valerio CarelliDepartment of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40123, Italy.
Vincent ProcaccioUniversity Angers, Angers Hospital, INSERM, CNRS, MITOVASC, SFR ICAT, Angers F-49000, France.
Holger ProkischSchool of Medicine, Institute of Human Genetics, Technical University of Munich, Munich, 80333 Germany.
Caterina GaroneDepartment of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna 40138, Italy.ORCID https://orcid.org/0000-0003-4928-1037
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal recessive pathogenetic variants in the
Indexed as
deoxyguanosine kinaseDGUOKliver transplantmitochondrial DNAnucleosides
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.