{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T12:58:22Z","timestamp":1788872302754,"version":"build-2803163510"},"publisher-location":"Berlin, Heidelberg","reference-count":22,"publisher":"Springer Berlin Heidelberg","isbn-type":[{"value":"9783642249358","type":"print"},{"value":"9783642249365","type":"electronic"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2011]]},"DOI":"10.1007\/8904_2011_33","type":"book-chapter","created":{"date-parts":[[2011,9,21]],"date-time":"2011-09-21T08:04:33Z","timestamp":1316592273000},"page":"5-9","source":"Crossref","is-referenced-by-count":10,"title":["Large Mitochondrial DNA Deletion in an Infant with Addison Disease"],"prefix":"10.1007","author":[{"given":"Gloria P.","family":"Duran","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Martinez-Aguayo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Poggi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Lagos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Gutierrez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. R.","family":"Harris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,9,22]]},"reference":[{"key":"33_CR13_33","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1016\/0016-5085(88)90178-3","volume":"95","author":"RW Ammann","year":"1988","unstructured":"Ammann RW, Muench R, Otto R, Buehler H, Freiburghaus AU, Siegenthaler W (1988) Evolution and regression of pancreatic calcification in chronic pancreatitis. A prospective long-term study of 107 patients. Gastroenterology 95:1018\u20131028","journal-title":"Gastroenterology"},{"key":"33_CR1_33","doi-asserted-by":"publisher","first-page":"1881","DOI":"10.1016\/S0140-6736(03)13492-7","volume":"361","author":"W Arlt","year":"2003","unstructured":"Arlt W, Allollo B (2003) Adrenal insufficiency. Lancet 361:1881\u20131893","journal-title":"Lancet"},{"issue":"8","key":"33_CR2_33","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1007\/s004310050902","volume":"157","author":"RG Boles","year":"1998","unstructured":"Boles RG, Roe T, Senadheera D, Mahnovski V, Wong LJ (1998) Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease. Eur J Pediatr 157(8):643\u2013647","journal-title":"Eur J Pediatr"},{"key":"33_CR9_33","doi-asserted-by":"publisher","first-page":"983","DOI":"10.1177\/08830738060210111001","volume":"21","author":"D Cassandrini","year":"2006","unstructured":"Cassandrini D, Savasta S, Bozzola M, Tessa A, Pedemonte M, Assereto S, Stringara S, Minetti C, Santorelli FM, Bruno C (2006) Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism. J Child Neurol 21:983\u2013985","journal-title":"J Child Neurol"},{"key":"33_CR5_33","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1023\/A:1006860508606","volume":"174","author":"T Ferlin","year":"1997","unstructured":"Ferlin T, Guironnet G, Barnoux MC, Dumoulin R, Stepien G, Mousson B (1997) Detection of mitochondrial DNA deletions by a screening procedure using the polymerase chain reaction. Mol Cell Biochem 174:221\u2013225","journal-title":"Mol Cell Biochem"},{"key":"33_CR19_33","first-page":"632","volume":"143","author":"J Finsterer","year":"2000","unstructured":"Finsterer J (2000) 2007 Pancreatitis as a manifestation of mitochondrial disorder. Am J Med Genet A 143:632\u2013633","journal-title":"Am J Med Genet A"},{"key":"33_CR20_33","first-page":"285","volume":"53","author":"J Finsterer","year":"2007","unstructured":"Finsterer J (2007) Recurrent pancreatitis as a manifestation of multisystem mitochondrial disorder. Minerva Gastroenterol Dietol 53:285\u2013289","journal-title":"Minerva Gastroenterol Dietol"},{"key":"33_CR8_33","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1023\/A:1005304015278","volume":"21","author":"K G\u00fcc\u00fcyener","year":"1998","unstructured":"G\u00fcc\u00fcyener K, Seyrantepe V, Topalo\u011flu H, Ozg\u00fc\u00e7 (1998) Mitochondrial deletion in a boy with growth hormone deficiency mimicking cerebral palsy. J Inherit Metab Dis 21:173\u2013174","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"33_CR3_33","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1111\/j.1365-2265.1992.tb02289.x","volume":"37","author":"JN Harvey","year":"1992","unstructured":"Harvey JN, Barnett D (1992) Endocrine dysfunction in Kearns\u2013Sayre syndrome. Clin Endocrinol (Oxf) 37(1):97\u2013103","journal-title":"Clin Endocrinol (Oxf)"},{"key":"33_CR15_33","doi-asserted-by":"publisher","first-page":"549","DOI":"10.1097\/00005176-199011000-00018","volume":"11","author":"S Kato","year":"1990","unstructured":"Kato S, Miyabayashi S, Ohi R, Nakagawa H, Abe J, Yamamoto K, Watanabe S, Tada K (1990) Chronic pancreatitis in muscular cytochrome c oxidase deficiency. J Pediatr Gastroenterol Nutr 11:549\u2013552","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"33_CR4_33","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1007\/s004390050567","volume":"100","author":"S Kleinle","year":"1997","unstructured":"Kleinle S, Wiesmann U, Superti-Furga A, Kr\u00e4henb\u00fchl S, Boltshauser E, Reichen J, Liechti-Gallati S (1997) Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns\u2013Sayre syndromes by long PCR. Hum Genet 100:643\u2013650","journal-title":"Hum Genet"},{"key":"33_CR11_33","doi-asserted-by":"publisher","first-page":"898","DOI":"10.1007\/BF02282842","volume":"155","author":"PS Kishnani","year":"1996","unstructured":"Kishnani PS, Van Hove JLK, Shoffner JS, Kaufman A, Bossen EH, Kahler SG (1996) Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu(UUR) gene. Eur J Pediatr 155:898\u2013903","journal-title":"Eur J Pediatr"},{"key":"33_CR7_33","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1007\/BF00711672","volume":"16","author":"A R\u00f6tig","year":"1993","unstructured":"R\u00f6tig A, Cormier V, Chatelain P, Francois R, Saudubray JM, Rustin P, Munnich A (1993) Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome). J Inherit Metab Dis 16:527\u2013530","journal-title":"J Inherit Metab Dis"},{"key":"33_CR6_33","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1111\/j.1600-0404.2007.00850.x","volume":"187","author":"PS Sanaker","year":"2007","unstructured":"Sanaker PS, Husebye ES, Fondenes O, Bindoff LA (2007) Clinical evolution of Kearns\u2013Sayre syndrome with polyendocrinopathy and respiratory failure. Acta Neurol Scand Suppl 187:64\u201367","journal-title":"Acta Neurol Scand Suppl"},{"key":"33_CR18_33","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1055\/s-2000-5800","volume":"108","author":"T Schleiffer","year":"2000","unstructured":"Schleiffer T,'t Hart LM, Sch\u00fcrfeld C, Kraatz K, Riemann JF (2000) Maternally inherited diabetes and deafness (MIDD): unusual occult exocrine pancreatic manifestation in an affected German family. Exp Clin Endocrinol Diabetes 108:81\u201385","journal-title":"Exp Clin Endocrinol Diabetes"},{"key":"33_CR10_33","doi-asserted-by":"publisher","first-page":"830","DOI":"10.1016\/S0887-8994(99)00084-3","volume":"21","author":"EM Simaan","year":"1999","unstructured":"Simaan EM, Mikati MA, Touma EH, R\u00f6tig A (1999) Unusual presentation of Kearns\u2013Sayre syndrome in early childhood. Pediatr Neurol 21:830\u2013831","journal-title":"Pediatr Neurol"},{"key":"33_CR12_33","first-page":"1090","volume":"131","author":"KC Stobbe","year":"1970","unstructured":"Stobbe KC, ReMine WH, Baggenstoss AH (1970) Pancreatic lithiasis. Surg Gynecol Obstet 131:1090\u20131099","journal-title":"Surg Gynecol Obstet"},{"key":"33_CR14_33","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1007\/BF02933048","volume":"6","author":"LA Scuro","year":"1990","unstructured":"Scuro LA, Cavallini G, Benini L, Brocco G, Bovo P, Riela A, Togni M, Cataudella G, Bassi C, Pederzoli P (1990) Pancreatic calcifications in patients with chronic pancreatitis. A sign of long-lasting or severe disease? Int J Pancreatol 6:139\u2013150","journal-title":"Int J Pancreatol"},{"key":"33_CR16_33","doi-asserted-by":"publisher","first-page":"300","DOI":"10.1016\/S0960-8966(00)00176-0","volume":"11","author":"M Toyono","year":"2001","unstructured":"Toyono M, Nakano K, Kiuchi M, Imai K, Suzuki H, Shishikura K, Osawa M, Shiratori K, Goto Y, Nonaka I, Sugie H (2001) A case of MERRF associated with chronic pancreatitis. Neuromuscul Disord 11:300\u2013304","journal-title":"Neuromuscul Disord"},{"key":"33_CR17_33","doi-asserted-by":"publisher","first-page":"822","DOI":"10.1177\/088307380001501213","volume":"15","author":"CY Tsao","year":"2000","unstructured":"Tsao CY, Mendell JR, Luquette M, Dixon B, Morrow G 3rd (2000) Mitochondrial DNA depletion in children. J Child Neurol 15:822\u2013824","journal-title":"J Child Neurol"},{"key":"33_CR21_33","doi-asserted-by":"publisher","first-page":"598","DOI":"10.1007\/s10038-008-0289-8","volume":"53","author":"S Yamashita","year":"2008","unstructured":"Yamashita S, Nishino I, Nonaka I, Goto Y (2008) Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions. J Hum Genet 53:598\u2013606","journal-title":"J Hum Genet"},{"key":"33_CR22_33","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1016\/j.mito.2006.11.025","volume":"7","author":"LJ Wong","year":"2007","unstructured":"Wong LJ (2007) Diagnostic challenges of mitochondrial DNA disorders. Mitochondrion 7:45\u201352","journal-title":"Mitochondrion"}],"container-title":["JIMD Reports","JIMD Reports - Case and Research Reports, 2011\/3"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/8904_2011_33","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,5]],"date-time":"2021-12-05T19:14:46Z","timestamp":1638731686000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/8904_2011_33"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011]]},"ISBN":["9783642249358","9783642249365"],"references-count":22,"URL":"https:\/\/doi.org\/10.1007\/8904_2011_33","relation":{},"ISSN":["2192-8304","2192-8312"],"issn-type":[{"value":"2192-8304","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011]]}}}