{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,4]],"date-time":"2025-12-04T18:30:06Z","timestamp":1764873006630,"version":"build-2065373602"},"reference-count":16,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2009,1]]},"DOI":"10.1016\/j.ejmg.2008.10.003","type":"journal-article","created":{"date-parts":[[2008,11,7]],"date-time":"2008-11-07T21:14:02Z","timestamp":1226092442000},"page":"23-26","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":27,"title":["Tubulopathy and pancytopaenia with normal pancreatic function: A variant of Pearson syndrome"],"prefix":"10.1016","volume":"52","author":[{"given":"Agn\u00e8s","family":"Atale","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrizia","family":"Bonneau-Amati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agn\u00e8s","family":"R\u00f6tig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alain","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"St\u00e9phanie","family":"Perez-Martin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pascale","family":"de Lonlay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Niaudet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"De Parscau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Mousson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Thauvin-Robinet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Huet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Faivre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2008.10.003_bib1","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1007\/s004670050178","article-title":"A case of Pearson syndrome associated with multiple renal cysts","volume":"10","author":"Gurgey","year":"1996","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.ejmg.2008.10.003_bib2","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1203\/00006450-199008000-00011","article-title":"Progressive increase of the mutated mitochondrial DNA fraction in Kearns\u2013Sayre syndrome","volume":"28","author":"Larsson","year":"1990","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ejmg.2008.10.003_bib3","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/j.ejpn.2006.12.008","article-title":"The neurological evolution of Pearson syndrome: case report and literature review","volume":"11","author":"Lee","year":"2007","journal-title":"Eur. J.\u00a0Paediatr. Neurol."},{"key":"10.1016\/j.ejmg.2008.10.003_bib4","first-page":"39","article-title":"Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA","volume":"48","author":"McShane","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2008.10.003_bib5","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1007\/BF01799603","article-title":"Clinical aspects of mitochondrial disorders","volume":"15","author":"Munnich","year":"1992","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ejmg.2008.10.003_bib6","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1007\/BF00865468","article-title":"Deletion of the mitochondrial DNA in a case of de Toni\u2013Debr\u00e9\u2013Fanconi syndrome and Pearson syndrome","volume":"8","author":"Niaudet","year":"1994","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.ejmg.2008.10.003_bib7","doi-asserted-by":"crossref","first-page":"1000","DOI":"10.1038\/ki.1997.140","article-title":"The kidney in mitochondrial cytopathies","volume":"51","author":"Niaudet","year":"1997","journal-title":"Kidney Int."},{"key":"10.1016\/j.ejmg.2008.10.003_bib8","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1136\/adc.78.4.387","article-title":"Mitochondrial disorders and the kidney","volume":"78","author":"Niaudet","year":"1998","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.ejmg.2008.10.003_bib9","doi-asserted-by":"crossref","first-page":"976","DOI":"10.1016\/S0022-3476(79)80286-3","article-title":"A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction","volume":"95","author":"Pearson","year":"1979","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ejmg.2008.10.003_bib10","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1093\/hmg\/4.8.1327","article-title":"Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome","volume":"4","author":"R\u00f6tig","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2008.10.003_bib11","doi-asserted-by":"crossref","first-page":"1601","DOI":"10.1172\/JCI114881","article-title":"Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy","volume":"86","author":"R\u00f6tig","year":"1990","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ejmg.2008.10.003_bib12","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1016\/S0022-3476(95)70359-4","article-title":"Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis","volume":"126","author":"R\u00f6tig","year":"1995","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ejmg.2008.10.003_bib13","first-page":"286","article-title":"Renal disease and mitochondrial genetics","volume":"16","author":"R\u00f6tig","year":"2003","journal-title":"J. Nephrol."},{"key":"10.1016\/j.ejmg.2008.10.003_bib14","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1007\/s00467-004-1473-5","article-title":"De Toni\u2013Debr\u00e9\u2013Fanconi syndrome due to a palindrome-flanked deletion in mitochondrial DNA","volume":"19","author":"Solano","year":"2004","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.ejmg.2008.10.003_bib15","first-page":"53","article-title":"Sensitivity and specificity of quantitative determination of pancreatic elastase 1 in feces of children","volume":"24","author":"Soldan","year":"1997","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"10.1016\/j.ejmg.2008.10.003_bib16","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1038\/sj.ejhg.5200444","article-title":"Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome","volume":"8","author":"van den Ouweland","year":"2000","journal-title":"Eur. J. Hum. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721208001389?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721208001389?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:36:28Z","timestamp":1761708988000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721208001389"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,1]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2009,1]]}},"alternative-id":["S1769721208001389"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2008.10.003","relation":{},"ISSN":["1769-7212"],"issn-type":[{"type":"print","value":"1769-7212"}],"subject":[],"published":{"date-parts":[[2009,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Tubulopathy and pancytopaenia with normal pancreatic function: A variant of Pearson syndrome","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2008.10.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2008 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}