{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T21:39:25Z","timestamp":1790890765291,"version":"4.1.0"},"reference-count":27,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2012,12,1]],"date-time":"2012-12-01T00:00:00Z","timestamp":1354320000000},"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":[[2012,12]]},"DOI":"10.1016\/j.ymgme.2012.10.008","type":"journal-article","created":{"date-parts":[[2012,10,22]],"date-time":"2012-10-22T17:00:54Z","timestamp":1350925254000},"page":"700-704","source":"Crossref","is-referenced-by-count":16,"title":["Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome"],"prefix":"10.1016","volume":"107","author":[{"given":"Coralie","family":"Haudry","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"de Lonlay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie","family":"Malan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Bole-Feysot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zahra","family":"Assouline","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Solenn","family":"Pruvost","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anais","family":"Brassier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Paul","family":"Bonnefont","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agn\u00e8s","family":"R\u00f6tig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Sophie","family":"Lebre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2012.10.008_bb0005","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1016\/j.jpeds.2007.01.044","article-title":"Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood","volume":"150","author":"Sarzi","year":"2007","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2012.10.008_bb0010","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1038\/89661","article-title":"Structural basis for substrate specificities of cellular deoxyribonucleoside kinases","volume":"8","author":"Johansson","year":"2001","journal-title":"Nat. Struct. Biol."},{"key":"10.1016\/j.ymgme.2012.10.008_bb0015","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.2012.10.008_bb0020","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.2012.10.008_bb0025","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1053\/jhep.2001.27664","article-title":"The hepatic mitochondrial DNA depletion syndrome: ultrastructural changes in liver biopsies","volume":"34","author":"Mandel","year":"2001","journal-title":"Hepatology"},{"key":"10.1016\/j.ymgme.2012.10.008_bb0030","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.2012.10.008_bb0035","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.2012.10.008_bb0040","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/j.ymgme.2009.03.007","article-title":"The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome","volume":"97","author":"Brahimi","year":"2009","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2012.10.008_bb0045","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.2012.10.008_bb0050","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/0009-8981(94)90055-8","article-title":"Biochemical and molecular investigations in respiratory chain deficiencies","volume":"228","author":"Rustin","year":"1994","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2012.10.008_bb0055","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.1210\/jc.86.3.1164","article-title":"Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism","volume":"86","author":"Bakker","year":"2001","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ymgme.2012.10.008_bb0060","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1136\/jmg.38.2.106","article-title":"Segmental uniparental isodisomy (UPD) for 2p16 without clinical symptoms: implications for UPD and other genetic studies of chromosome 2","volume":"38","author":"Stratakis","year":"2001","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ymgme.2012.10.008_bb0065","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1002\/humu.10142","article-title":"Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations","volume":"20","author":"Spiekerkoetter","year":"2002","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2012.10.008_bb0070","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1046\/j.1365-2265.2003.01810.x","article-title":"Maternal isodisomy causing homozygosity for a dominant activating mutation of the luteinizing hormone receptor gene in a boy with familial male-limited precocious puberty","volume":"59","author":"Latronico","year":"2003","journal-title":"Clin. Endocrinol. (Oxf)"},{"key":"10.1016\/j.ymgme.2012.10.008_bb0075","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1002\/ajmg.a.30375","article-title":"Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1","volume":"132A","author":"Chevalier-Porst","year":"2005","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ymgme.2012.10.008_bb0080","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1007\/s10048-008-0148-y","article-title":"Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP)","volume":"10","author":"Herzfeld","year":"2009","journal-title":"Neurogenetics"},{"key":"10.1016\/j.ymgme.2012.10.008_bb0085","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1016\/j.jpeds.2009.06.006","article-title":"Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes","volume":"155","author":"Hamvas","year":"2009","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2012.10.008_bb0090","doi-asserted-by":"crossref","first-page":"3147","DOI":"10.1210\/jc.85.9.3147","article-title":"Uniparental disomy in steroid 5alpha-reductase 2 deficiency","volume":"85","author":"Chavez","year":"2000","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ymgme.2012.10.008_bb1000","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1086\/338455","article-title":"Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively","volume":"70","author":"Thompson","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2012.10.008_bb0095","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1038\/sj.ejhg.5201342","article-title":"Paternal isodisomy for chromosome 2 as the cause of Crigler\u2013Najjar type I syndrome","volume":"13","author":"Petit","year":"2005","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2012.10.008_bb0100","doi-asserted-by":"crossref","first-page":"1842","DOI":"10.1002\/ajmg.a.32381","article-title":"Donnai\u2013Barrow syndrome (DBS\/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy","volume":"146A","author":"Kantarci","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ymgme.2012.10.008_bb0105","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1159\/000200093","article-title":"A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology","volume":"124","author":"Talseth-Palmer","year":"2009","journal-title":"Cytogenet. Genome Res."},{"key":"10.1016\/j.ymgme.2012.10.008_bb0110","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1111\/j.1399-0004.2009.01242.x","article-title":"Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2","volume":"76","author":"Lopez-Garrido","year":"2009","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgme.2012.10.008_bb0115","doi-asserted-by":"crossref","first-page":"1808","DOI":"10.1002\/ajmg.a.33462","article-title":"Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency","volume":"152A","author":"Baskin","year":"2010","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ymgme.2012.10.008_bb0120","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1038\/jhg.2011.112","article-title":"Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis","volume":"56","author":"Douglas","year":"2011","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2012.10.008_bb0125","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1111\/j.1872-034X.2011.00925.x","article-title":"Paternal isodisomy of chromosome 2 in a child with bile salt export pump deficiency","volume":"42","author":"Giovannoni","year":"2012","journal-title":"Hepatol. Res."},{"key":"10.1016\/j.ymgme.2012.10.008_bb0130","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/sj.ejhg.5201158","article-title":"Advanced parental age in maternal uniparental disomy (UPD): implications for the mechanism of formation","volume":"12","author":"Kotzot","year":"2004","journal-title":"Eur. J. Hum. Genet."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719212003769?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719212003769?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,11,20]],"date-time":"2018-11-20T02:25:02Z","timestamp":1542680702000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719212003769"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,12]]},"references-count":27,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["S1096719212003769"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2012.10.008","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2012,12]]}}}