{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T15:31:33Z","timestamp":1764603093558},"reference-count":21,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2012,9,1]],"date-time":"2012-09-01T00:00:00Z","timestamp":1346457600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2012,9]]},"DOI":"10.1016\/j.ymgme.2012.04.019","type":"journal-article","created":{"date-parts":[[2012,4,26]],"date-time":"2012-04-26T21:56:20Z","timestamp":1335477380000},"page":"92-94","source":"Crossref","is-referenced-by-count":24,"title":["Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy"],"prefix":"10.1016","volume":"107","author":[{"given":"Adam H.","family":"Buchaklian","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Helbling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie M.","family":"Ware","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David P.","family":"Dimmock","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2012.04.019_bb0005","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.mito.2006.11.010","article-title":"Depletion of mtDNA: syndromes and genes","volume":"7","author":"Alberio","year":"2007","journal-title":"Mitochondrion"},{"key":"10.1016\/j.ymgme.2012.04.019_bb0010","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1093\/oxfordjournals.jbchem.a122227","article-title":"Amino acid sequence of rat argininosuccinate lyase deduced from cDNA","volume":"103","author":"Amaya","year":"1988","journal-title":"J. Biochem."},{"key":"10.1016\/j.ymgme.2012.04.019_bb0015","first-page":"492","article-title":"mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases","volume":"48","author":"Moraes","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2012.04.019_bb0020","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.gene.2005.03.025","article-title":"Disorders of nuclear-mitochondrial intergenomic signaling","volume":"354","author":"Spinazzola","year":"2005","journal-title":"Gene"},{"issue":"2","key":"10.1016\/j.ymgme.2012.04.019_bb0025","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1007\/s10545-008-1038-z","article-title":"Clinical and molecular features of mitochondrial DNA depletion syndromes","volume":"32","author":"Spinazzola","year":"2009","journal-title":"J. Inherit. Metab. Dis."},{"issue":"2","key":"10.1016\/j.ymgme.2012.04.019_bb0030","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1007\/s10545-008-1038-z","article-title":"Clinical and molecular features of mitochondrial DNA depletion syndromes","volume":"32","author":"Spinazzola","year":"2009","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2012.04.019_bb0035","doi-asserted-by":"crossref","first-page":"1480","DOI":"10.1002\/lt.21556","article-title":"Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency","volume":"14","author":"Dimmock","year":"2008","journal-title":"Liver Transpl."},{"key":"10.1016\/j.ymgme.2012.04.019_bb0040","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1001\/archneur.63.8.1129","article-title":"Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations","volume":"63","author":"Freisinger","year":"2006","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.ymgme.2012.04.019_bb0045","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/j.jhep.2005.03.023","article-title":"Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency","volume":"43","author":"Labarthe","year":"2005","journal-title":"J. Hepatol."},{"key":"10.1016\/j.ymgme.2012.04.019_bb0050","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/ng746","article-title":"The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA","volume":"29","author":"Mandel","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymgme.2012.04.019_bb0055","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1002\/ana.10284","article-title":"Mitochondrial DNA depletion and dGK gene mutations","volume":"52","author":"Salviati","year":"2002","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymgme.2012.04.019_bb0060","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1002\/humu.9519","article-title":"Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase","volume":"29","author":"Dimmock","year":"2008","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2012.04.019_bb0065","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1042\/BJ20060705","article-title":"Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion","volume":"402","author":"Mousson de Camaret","year":"2007","journal-title":"Biochem. J."},{"issue":"7","key":"10.1016\/j.ymgme.2012.04.019_bb0070","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1373\/clinchem.2009.141549","article-title":"A Quantitative Evaluation of the Mitochondrial DNA Depletion Syndrome","volume":"56","author":"Dimmock","year":"2010","journal-title":"Clin. Chem."},{"key":"10.1016\/j.ymgme.2012.04.019_bb0075","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/j.mito.2004.07.039","article-title":"Respiratory chain analysis of skin fibroblasts in mitochondrial disease","volume":"4","author":"Cameron","year":"2004","journal-title":"Mitochondrion"},{"key":"10.1016\/j.ymgme.2012.04.019_bb0080","doi-asserted-by":"crossref","first-page":"1839","DOI":"10.1093\/hmg\/ddg192","article-title":"Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts","volume":"12","author":"Taanman","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2012.04.019_bb0085","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1016\/j.mito.2004.07.005","article-title":"Biochemical examination of fibroblasts in the diagnosis and research of oxidative phosphorylation (OXPHOS) defects","volume":"4","author":"van den Heuvel","year":"2004","journal-title":"Mitochondrion"},{"key":"10.1016\/j.ymgme.2012.04.019_bb0090","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1093\/hmg\/ddn309","article-title":"Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice","volume":"18","author":"Viscomi","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2012.04.019_bb0095","doi-asserted-by":"crossref","first-page":"5434","DOI":"10.1073\/pnas.86.14.5434","article-title":"Activation of muscle-specific genes in pigment, nerve, fat, liver, and fibroblast cell lines by forced expression of MyoD","volume":"86","author":"Weintraub","year":"1989","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.ymgme.2012.04.019_bb0100","doi-asserted-by":"crossref","first-page":"e773","DOI":"10.1542\/peds.2006-1950","article-title":"Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet","volume":"119","author":"Dimmock","year":"2007","journal-title":"Pediatrics"},{"key":"10.1016\/j.ymgme.2012.04.019_bb0105","doi-asserted-by":"crossref","first-page":"1590","DOI":"10.1093\/hmg\/ddp074","article-title":"In vitro supplementation with dAMP\/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes","volume":"18","author":"Bulst","year":"2009","journal-title":"Hum. Mol. Genet."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S109671921200162X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S109671921200162X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,6,27]],"date-time":"2019-06-27T20:46:06Z","timestamp":1561668366000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S109671921200162X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,9]]},"references-count":21,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2012,9]]}},"alternative-id":["S109671921200162X"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2012.04.019","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2012,9]]}}}