{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,15]],"date-time":"2024-09-15T15:12:42Z","timestamp":1726413162137},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2009,7,1]],"date-time":"2009-07-01T00:00:00Z","timestamp":1246406400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2009,7,1]],"date-time":"2009-07-01T00:00:00Z","timestamp":1246406400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2009,7]]},"DOI":"10.1007\/s00467-008-1049-x","type":"journal-article","created":{"date-parts":[[2008,11,14]],"date-time":"2008-11-14T12:44:12Z","timestamp":1226666652000},"page":"1409-1412","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings"],"prefix":"10.1007","volume":"24","author":[{"given":"Tom\u00e1\u0161","family":"Seeman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcela","family":"Mal\u00edkov\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kv\u011bta","family":"Bl\u00e1hov\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Seemanov\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2009,7,1]]},"reference":[{"unstructured":"McKusick VA (1998) Mendelian Inheritance in man, 12th edn. Johns Hopkins University Press, Baltimore. OMIM version available at: https:\/\/doi.org\/www.ncbi.nlm.nih.gov\/sites\/entrez","key":"1049_CR1"},{"key":"1049_CR2","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1111\/j.1399-0004.1974.tb00636.x","volume":"6","author":"AGW Hunter","year":"1974","unstructured":"Hunter AGW, Rothman SJ, Hwang WS, Deckelbaum RJ (1974) Hepatic fibrosis, polycystic kidney, colobomata and encephalopathy in siblings. Clin Genet 6:82\u201389","journal-title":"Clin Genet"},{"key":"1049_CR3","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1002\/ajmg.1320240119","volume":"24","author":"E Thompson","year":"1986","unstructured":"Thompson E, Baraitser M (1986) An autosomal recessive mental retardation syndrome with hepatic fibrosis and renal cysts. Am J Med Genet 24:151\u2013158","journal-title":"Am J Med Genet"},{"key":"1049_CR4","doi-asserted-by":"publisher","first-page":"617","DOI":"10.1016\/S0022-3476(65)80433-4","volume":"67","author":"DW Smith","year":"1965","unstructured":"Smith DW, Opitz JM, Inhorn SL (1965) A syndrome of multiple defects including polycystic kidneys and intrahepatic billary dysgenesis in 2 siblings. J Pediatr 67:617\u2013624","journal-title":"J Pediatr"},{"key":"1049_CR5","doi-asserted-by":"publisher","first-page":"639","DOI":"10.1002\/ajmg.1320290323","volume":"29","author":"BS Kaplan","year":"1988","unstructured":"Kaplan BS, Kaplan P, de Chadarevian JP, Jequier S, O`Regan S, Russo P (1988) Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family. Am J Med Genet 29:639\u2013647","journal-title":"Am J Med Genet"},{"key":"1049_CR6","doi-asserted-by":"publisher","first-page":"540","DOI":"10.1097\/00005176-199005000-00019","volume":"10","author":"P Labrune","year":"1990","unstructured":"Labrune P, Lange JC, Bedossa P, Chaussain JL, Odievre M (1990) Congenital hepatic fibrosis, cystic kidneys, mental retardation, and facial dysmorphy: a new report of an autosomal recessive syndrome. J Pediatr Gastroenterol Nutr 10:540\u2013543","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"1049_CR7","first-page":"28","volume":"25","author":"DL Gang","year":"1986","unstructured":"Gang DL, Herrin JT (1986) Infantile polycystic disease of the liver and kidneys. Clin Nephrol 25:28\u201336","journal-title":"Clin Nephrol"},{"key":"1049_CR8","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1097\/01.md.0000200165.90373.9a","volume":"85","author":"M Adeva","year":"2006","unstructured":"Adeva M, El-Youssef M, Rossetti S, Kamath PS, Kubly V, Consugar MB, Milliner DM, King BF, Torres VE, Harris PC (2006) Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). Medicine (Baltimore) 85:1\u201321","journal-title":"Medicine (Baltimore)"},{"key":"1049_CR9","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1007\/s00467-002-1021-0","volume":"18","author":"R Capisonda","year":"2003","unstructured":"Capisonda R, Phan V, Traubuci J, Daneman A, Balfe JW, Guay-Woodford LM (2003) Autosomal recessive polycystic kidney disease: outcomes from a single-center experience. Pediatr Nephrol 18:119\u2013126","journal-title":"Pediatr Nephrol"},{"key":"1049_CR10","doi-asserted-by":"publisher","first-page":"829","DOI":"10.1111\/j.1523-1755.2005.00148.x","volume":"67","author":"C Bergmann","year":"2005","unstructured":"Bergmann C, Senderek J, Windelen E, K\u00fcpper F, Middeldorf I, Schneider F, Dornia C, Rudnik-Sch\u00f6neborn S, Konrad M, Schmitt CP, Seeman T, Neuhaus TJ, Vester U, Kirfel J, B\u00fcttner R, Zerres K, APN (Arbeitsgemeinschaft f\u00fcr P\u00e4diatrische Nephrologie) (2005) Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int 67:829\u2013848","journal-title":"Kidney Int"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-008-1049-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00467-008-1049-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-008-1049-x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-008-1049-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,1,16]],"date-time":"2021-01-16T05:06:41Z","timestamp":1610773601000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00467-008-1049-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,7]]},"references-count":10,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2009,7]]}},"alternative-id":["1049"],"URL":"https:\/\/doi.org\/10.1007\/s00467-008-1049-x","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"type":"print","value":"0931-041X"},{"type":"electronic","value":"1432-198X"}],"subject":[],"published":{"date-parts":[[2009,7]]},"assertion":[{"value":"10 May 2008","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 September 2008","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 October 2008","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 July 2009","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}