{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T13:48:59Z","timestamp":1790430539111,"version":"4.1.0"},"reference-count":36,"publisher":"Elsevier BV","issue":"5","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":["European Journal of Paediatric Neurology"],"published-print":{"date-parts":[[2012,9]]},"DOI":"10.1016\/j.ejpn.2012.01.013","type":"journal-article","created":{"date-parts":[[2012,2,17]],"date-time":"2012-02-17T13:46:24Z","timestamp":1329486384000},"page":"542-548","source":"Crossref","is-referenced-by-count":23,"title":["Polymerase gamma deficiency (POLG): Clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh\u2019s encephalopathy"],"prefix":"10.1016","volume":"16","author":[{"given":"Emmanuel","family":"Scalais","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baudouin","family":"Francois","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Schlesser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rene","family":"Stevens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Nuttin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Jacques","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rudy","family":"Van Coster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Seneca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Roels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gert","family":"Van Goethem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann","family":"L\u00f6fgren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"De Meirleir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.ejpn.2012.01.013_bib1","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"},{"issue":"5","key":"10.1016\/j.ejpn.2012.01.013_bib2","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1002\/ana.20079","article-title":"POLG mutations associated with Alpers\u2019 syndrome and mitochondrial DNA depletion","volume":"55","author":"Naviaux","year":"2004","journal-title":"Ann Neurol"},{"issue":"6","key":"10.1016\/j.ejpn.2012.01.013_bib3","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1002\/ana.20498","article-title":"POLG mutations and Alpers syndrome","volume":"57","author":"Davidzon","year":"2005","journal-title":"Ann Neurol"},{"issue":"3","key":"10.1016\/j.ejpn.2012.01.013_bib4","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1007\/s00431-006-0234-9","article-title":"Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations","volume":"166","author":"de Vries","year":"2007","journal-title":"Eur J Pediatr"},{"issue":"Pt 4","key":"10.1016\/j.ejpn.2012.01.013_bib5","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1093\/brain\/awh410","article-title":"Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA","volume":"128","author":"Ferrari","year":"2005","journal-title":"Brain"},{"issue":"Pt 7","key":"10.1016\/j.ejpn.2012.01.013_bib6","doi-asserted-by":"crossref","first-page":"1674","DOI":"10.1093\/brain\/awl088","article-title":"Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene","volume":"129","author":"Horvath","year":"2006","journal-title":"Brain"},{"issue":"8","key":"10.1016\/j.ejpn.2012.01.013_bib7","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1097\/01.jnen.0000229987.17548.6e","article-title":"POLG1 mutations associated with progressive encephalopathy in childhood","volume":"65","author":"Kollberg","year":"2006","journal-title":"J Neuropathol Exp Neurol"},{"issue":"2","key":"10.1016\/j.ejpn.2012.01.013_bib8","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1001\/archneurol.2009.332","article-title":"A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes","volume":"67","author":"Kurt","year":"2010","journal-title":"Arch Neurol"},{"issue":"1","key":"10.1016\/j.ejpn.2012.01.013_bib9","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/j.jhep.2005.12.026","article-title":"Molecular diagnosis of Alpers syndrome","volume":"45","author":"Nguyen","year":"2006","journal-title":"J Hepatol"},{"issue":"1","key":"10.1016\/j.ejpn.2012.01.013_bib10","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/1471-2377-11-4","article-title":"Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome","volume":"11","author":"Schaller","year":"2011","journal-title":"BMC Neurol"},{"issue":"9","key":"10.1016\/j.ejpn.2012.01.013_bib11","doi-asserted-by":"crossref","first-page":"E150","DOI":"10.1002\/humu.20824","article-title":"Molecular and clinical genetics of mitochondrial diseases due to POLG mutations","volume":"29","author":"Wong","year":"2008","journal-title":"Hum Mutat"},{"issue":"2","key":"10.1016\/j.ejpn.2012.01.013_bib12","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1203\/PDR.0b013e3181e5c3a4","article-title":"Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy","volume":"68","author":"Van Hove","year":"2010","journal-title":"Pediatr Res"},{"key":"10.1016\/j.ejpn.2012.01.013_bib13","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/1472-6890-9-4","article-title":"Mitochondrial mosaics in the liver of 3 infants with mtDNA defects","volume":"9","author":"Roels","year":"2009","journal-title":"BMC Clin Pathol"},{"key":"10.1016\/j.ejpn.2012.01.013_bib14","series-title":"Inborn metabolic diseases diagnosis and treatment","first-page":"135","article-title":"Disorders of fructose metabolism","author":"Steinmann","year":"2006"},{"key":"10.1016\/j.ejpn.2012.01.013_bib15","series-title":"Inborn metabolic diseases: diagnosis and treatment","first-page":"175","article-title":"Disorders of mitochondrial fatty acid oxidation and related metabolic pathways","author":"Stanley","year":"2006"},{"issue":"1","key":"10.1016\/j.ejpn.2012.01.013_bib16","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.ejpn.2009.07.005","article-title":"Treatment of mitochondrial disorders","volume":"14","author":"Finsterer","year":"2010","journal-title":"Eur J Paediatr Neurol"},{"issue":"8","key":"10.1016\/j.ejpn.2012.01.013_bib17","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"},{"issue":"3","key":"10.1016\/j.ejpn.2012.01.013_bib18","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"},{"issue":"2","key":"10.1016\/j.ejpn.2012.01.013_bib19","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1097\/00005176-200402000-00022","article-title":"Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation","volume":"38","author":"Rabinowitz","year":"2004","journal-title":"J Pediatr Gastroenterol Nutr"},{"issue":"3","key":"10.1016\/j.ejpn.2012.01.013_bib20","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"},{"issue":"8","key":"10.1016\/j.ejpn.2012.01.013_bib21","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.1001\/archneur.65.8.1108","article-title":"Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations","volume":"65","author":"Spinazzola","year":"2008","journal-title":"Arch Neurol"},{"issue":"9","key":"10.1016\/j.ejpn.2012.01.013_bib22","doi-asserted-by":"crossref","first-page":"1493","DOI":"10.1212\/01.wnl.0000182814.55361.70","article-title":"POLG mutations in Alpers syndrome","volume":"65","author":"Nguyen","year":"2005","journal-title":"Neurology"},{"issue":"3","key":"10.1016\/j.ejpn.2012.01.013_bib23","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1038\/ng751","article-title":"Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy","volume":"29","author":"Saada","year":"2001","journal-title":"Nat Genet"},{"issue":"Pt 11","key":"10.1016\/j.ejpn.2012.01.013_bib24","doi-asserted-by":"crossref","first-page":"2841","DOI":"10.1093\/brain\/awn236","article-title":"Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome","volume":"131","author":"Gotz","year":"2008","journal-title":"Brain"},{"issue":"6","key":"10.1016\/j.ejpn.2012.01.013_bib25","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1038\/ng2040","article-title":"Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion","volume":"39","author":"Bourdon","year":"2007","journal-title":"Nat Genet"},{"issue":"6","key":"10.1016\/j.ejpn.2012.01.013_bib26","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1086\/430843","article-title":"Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion","volume":"76","author":"Elpeleg","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ejpn.2012.01.013_bib27","article-title":"A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria","author":"Ostergaard","year":"2009","journal-title":"Eur J Pediatr"},{"issue":"5402","key":"10.1016\/j.ejpn.2012.01.013_bib28","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1126\/science.283.5402.689","article-title":"Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder","volume":"283","author":"Nishino","year":"1999","journal-title":"Science"},{"issue":"6","key":"10.1016\/j.ejpn.2012.01.013_bib29","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1002\/ana.21207","article-title":"Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion","volume":"62","author":"Sarzi","year":"2007","journal-title":"Ann Neurol"},{"issue":"5","key":"10.1016\/j.ejpn.2012.01.013_bib30","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1038\/ng1765","article-title":"MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion","volume":"38","author":"Spinazzola","year":"2006","journal-title":"Nat Genet"},{"issue":"1","key":"10.1016\/j.ejpn.2012.01.013_bib31","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/j.jhep.2008.08.019","article-title":"Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients","volume":"50","author":"Parini","year":"2009","journal-title":"J Hepatol"},{"issue":"1","key":"10.1016\/j.ejpn.2012.01.013_bib32","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1002\/1531-8249(199901)45:1<54::AID-ART10>3.0.CO;2-B","article-title":"Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers\u2019 syndrome","volume":"45","author":"Naviaux","year":"1999","journal-title":"Ann Neurol"},{"issue":"1","key":"10.1016\/j.ejpn.2012.01.013_bib33","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1007\/s00401-003-0698-x","article-title":"Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease)","volume":"106","author":"Simonati","year":"2003","journal-title":"Acta Neuropathol"},{"issue":"6","key":"10.1016\/j.ejpn.2012.01.013_bib34","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1007\/s00415-003-1065-5","article-title":"Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease","volume":"250","author":"Simonati","year":"2003","journal-title":"J Neurol"},{"key":"10.1016\/j.ejpn.2012.01.013_bib35","series-title":"Neurology of hereditary metabolic diseases of children","first-page":"65","article-title":"Early infantile progressive metabolic encephalopathies: clinical problems and diagnostic considerations","author":"Lyon","year":"2006"},{"issue":"1","key":"10.1016\/j.ejpn.2012.01.013_bib36","doi-asserted-by":"crossref","first-page":"29","DOI":"10.2174\/1567202052773544","article-title":"Pathogenesis of stroke-like episodes in MELAS: analysis of neurovascular cellular mechanisms","volume":"2","author":"Iizuka","year":"2005","journal-title":"Curr Neurovasc Res"}],"container-title":["European Journal of Paediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379812000177?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379812000177?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,7,2]],"date-time":"2020-07-02T16:26:29Z","timestamp":1593707189000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1090379812000177"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,9]]},"references-count":36,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2012,9]]}},"alternative-id":["S1090379812000177"],"URL":"https:\/\/doi.org\/10.1016\/j.ejpn.2012.01.013","relation":{},"ISSN":["1090-3798"],"issn-type":[{"value":"1090-3798","type":"print"}],"subject":[],"published":{"date-parts":[[2012,9]]}}}