{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Manzoni E"],"funding":["Dietmar Hopp Foundation","Royal Free Charity","Japan","German Federal Ministry of Education and Research","Fund 42","BMBF","Piano Nazionale di Ripresa e Resilienza","Telethon","European Union","National Center for Gene Therapy and Drugs","Japan Agency for Medical Research and Development","Telethon-MITOCON","PerMiM Personalized Mitochondrial Medicine","Japan Society for the Promotion of Science"],"pagination":["fcae160"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11098040"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["6(3)"],"pubmed_abstract":["Autosomal recessive pathogenetic variants in the <i>DGUOK</i> gene cause deficiency of deoxyguanosine kinase activity and mitochondrial deoxynucleotides pool imbalance, consequently, leading to quantitative and/or qualitative impairment of mitochondrial DNA synthesis. Typically, patients present early-onset liver failure with or without neurological involvement and a clinical course rapidly progressing to death. This is an international multicentre study aiming to provide a retrospective natural history of deoxyguanosine kinase deficient patients. A systematic literature review from January 2001 to June 2023 was conducted. Physicians of research centres or clinicians all around the world caring for previously reported patients were contacted to provide followup information or additional cl"],"journal":["Brain communications"],"pubmed_title":["Deoxyguanosine kinase deficiency: natural history and liver transplant outcome."],"pmcid":["PMC11098040"],"funding_grant_id":["GSP16001","RF-2016–02361495","01GM1906B","01KU2016A","JP23ek0109625","JP22kk0305015","01GM1207","JP22ek0109468","EJPRD2019","23011235"],"pubmed_authors":["Primiano G","Mayr J","Gasperini S","Prokisch H","Menni F","Karall D","Furlan F","Schlieben LD","Okazaki Y","Santer R","Lamperti C","Garone C","Murayama K","Rouzier C","Procaccio V","Laborde N","Manzoni E","Taanman JW","Mancuso M","Petkovic Ramadza D","Cordelli DM","Carli S","Staufner C","Shimura M","Gaignard P","La Morgia C","Bris C","Hirano M","Musumeci O","Tal G","Ticci C","Baric I","Nesbitt V","Carelli V","Montano V","Martinelli D","Gonzales E","Ronchi D","Servidei S","Lenz D","Cano A","Procopio E"],"additional_accession":[]},"is_claimable":false,"name":"Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.","description":"Autosomal recessive pathogenetic variants in the <i>DGUOK</i> gene cause deficiency of deoxyguanosine kinase activity and mitochondrial deoxynucleotides pool imbalance, consequently, leading to quantitative and/or qualitative impairment of mitochondrial DNA synthesis. Typically, patients present early-onset liver failure with or without neurological involvement and a clinical course rapidly progressing to death. This is an international multicentre study aiming to provide a retrospective natural history of deoxyguanosine kinase deficient patients. A systematic literature review from January 2001 to June 2023 was conducted. Physicians of research centres or clinicians all around the world caring for previously reported patients were contacted to provide followup information or additional cl","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024","modification":"2026-04-20T03:19:41.553Z","creation":"2026-04-20T03:14:23.363Z"},"accession":"S-EPMC11098040","cross_references":{"pubmed":["38756539"],"doi":["10.1093/braincomms/fcae160"]}}