{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T13:25:45Z","timestamp":1760189145997},"reference-count":22,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2008,6,28]],"date-time":"2008-06-28T00:00:00Z","timestamp":1214611200000},"content-version":"vor","delay-in-days":4076,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[1997,5]]},"abstract":"<jats:p>Human mitochondrial DNA (mt DNA) lesions can cause a heterogeneous group of mitochondrial degenerative disorders. We report on a 5\u2010year\u2010old patient suffering from the full\u2010blown picture of Pearson syndrome. His symptoms started in the first year of life with failure to thrive, followed by chronic diarrhoea and lactic acidosis at 18 months of age. Analysis of mitochondrial DNA revealed large amounts of mt DNA molecules with a 2.7 kb deletion in all tissues examined. The diagnosis of Pearson syndrome was made initially in the absence of haematological disturbances. In the following months neutropenia, sideroblastic anaemia and hypoparathyroidism developed. Daily administration of dichloroacetate (DCA) and bicarbonate controls the lactic acidosis, while episodic treatments with filgastrim (Neupogen\u00ae) reverse episodes of severe neutropenia. Calcium and vitamin D supplementation compensate for the hypoparathyroidism. Chronic administration of DCA and supportive treatment for a long period help to stabilize patients with multiorgan dysfunction.<\/jats:p>","DOI":"10.1111\/j.1399-0004.1997.tb02484.x","type":"journal-article","created":{"date-parts":[[2010,7,19]],"date-time":"2010-07-19T10:22:29Z","timestamp":1279534949000},"page":"338-342","source":"Crossref","is-referenced-by-count":35,"title":["Pearson marrow pancreas syndrome: a molecular study and clinical management"],"prefix":"10.1111","volume":"51","author":[{"given":"Sara","family":"Seneca","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda De","family":"Meirleir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean De","family":"Scbepper","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadine","family":"Balduck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristin","family":"Jochmans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inge","family":"Liebaers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Willy","family":"Lissens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,6,28]]},"reference":[{"key":"e_1_2_1_1_1","doi-asserted-by":"publisher","DOI":"10.1038\/290457a0"},{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80698-5"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01956163"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/331717a0"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410260603"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.8.1322-a"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01957508"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(88)91632-7"},{"key":"e_1_2_1_9_1","first-page":"39","article-title":"Pearson syndrome and mitochondrial enccphalomyopathy in a patient with a deletion of mt DNA","volume":"48","author":"McShane MA","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198905183202001"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80286-3"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(89)91256-7"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711675"},{"key":"e_1_2_1_14_1","doi-asserted-by":"crossref","unstructured":"R\u00f6tigA ColonnaM BlancheS FischerA LeDiestF FrezalJ SaudubrayJM MunnichA.Deletion of blood mitochondrial DNA in pancytopenia.Lancet1988:567\u2013568.","DOI":"10.1016\/S0140-6736(88)92687-6"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(89)92897-3"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI114881"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90342-C"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.8.1327"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199211263272204"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80470-2"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02072515"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.38.9.1339"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.1997.tb02484.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.1997.tb02484.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T09:38:53Z","timestamp":1698485933000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.1997.tb02484.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,5]]},"references-count":22,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1997,5]]}},"alternative-id":["10.1111\/j.1399-0004.1997.tb02484.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.1997.tb02484.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,5]]}}}