{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T16:55:10Z","timestamp":1773248110095,"version":"3.50.1"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2009,4,1]],"date-time":"2009-04-01T00:00:00Z","timestamp":1238544000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2009,4,1]],"date-time":"2009-04-01T00:00:00Z","timestamp":1238544000000},"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":[[2009,4]]},"DOI":"10.1007\/s00467-008-1008-6","type":"journal-article","created":{"date-parts":[[2008,10,8]],"date-time":"2008-10-08T12:46:54Z","timestamp":1223470014000},"page":"841-844","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Deletion of exons 2\u20134 in the BSND gene causes severe antenatal Bartter syndrome"],"prefix":"10.1007","volume":"24","author":[{"given":"Zelal","family":"Bircan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filiz","family":"Harputluoglu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nikola","family":"Jeck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2009,4,1]]},"reference":[{"key":"1008_CR1","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1097\/01.ASN.0000049161.60740.CE","volume":"14","author":"M Konrad","year":"2003","unstructured":"Konrad M, Weber S (2003) Recent advances in molecular genetics of hereditary magnesium-losing disorders. J Am Soc Nephrol 14:249\u2013260","journal-title":"J Am Soc Nephrol"},{"key":"1008_CR2","doi-asserted-by":"publisher","first-page":"558","DOI":"10.1038\/35107099","volume":"414","author":"R Estevez","year":"2001","unstructured":"Estevez R, Boettger T, Stein V, Birkenh\u00e4ger R, Otto E, Hildebrandt F, Jentsch TJ (2001) Barttin is a Cl\u2212 channel \u03b2\u2013subunit crucial for renal Cl\u2212 reabsorption and inner ear K+ secretion. Nature 414:558\u2013561","journal-title":"Nature"},{"key":"1008_CR3","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1038\/ng752","volume":"29","author":"R Birkenh\u00e4ger","year":"2001","unstructured":"Birkenh\u00e4ger R, Otto E, Sch\u00fcrmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, Beekmann F, Fekete A, Omran H, Feldmann D, Milford DV, Jeck N, Konrad M, Landau D, Knoers NV, Antignac C, Sudbrak R, Kispert A, Hildebrandt F (2001) Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet 29:310\u2013314","journal-title":"Nat Genet"},{"key":"1008_CR4","doi-asserted-by":"publisher","first-page":"781","DOI":"10.1210\/jc.2002-021398","volume":"88","author":"N Miyamura","year":"2003","unstructured":"Miyamura N, Matsumoto K, Taguchi T, Tokunaga H, Nishikawa T, Nishida K, Toyonaga T, Sakakida M, Araki E (2003) Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the \u03b2-subunit for CIC-Ka and CIC-Kb chloride channels, barttin. J Clin Endocrinol Metab 88:781\u2013786","journal-title":"J Clin Endocrinol Metab"},{"key":"1008_CR5","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1093\/ndt\/gfl493","volume":"22","author":"S Brum","year":"2007","unstructured":"Brum S, Rueff J, Santos JR, Calado J (2007) Unusual adult\u2013onset manifestation of an attenuated Bartter\u2019s syndrome type IV renal phenotype caused by a mutation in BSND. Nephrol Dial Transplant 22:288\u2013289","journal-title":"Nephrol Dial Transplant"},{"key":"1008_CR6","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1007\/s00467-006-0062-1","volume":"21","author":"V Garcia-Nieto","year":"2006","unstructured":"Garcia-Nieto V, Flores C, Luis-Yanes MI, Gallego E, Villar J, Claverie-Martin FC (2006) Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families. Pediatr Nephrol 21:643\u2013648","journal-title":"Pediatr Nephrol"},{"key":"1008_CR7","doi-asserted-by":"publisher","first-page":"1056","DOI":"10.1007\/s00467-006-0108-4","volume":"21","author":"F Ozlu","year":"2006","unstructured":"Ozlu F, Yapicio\u011flu H, Satar M, Narli N, \u00d6zcan K, B\u00fcy\u00fck\u00e7elik M, Konrad M, Demirhan O (2006) Barttin mutations in antenatal Bartter syndrome with sensorineural deafness. Pediatr Nephrol 21:1056\u20131057","journal-title":"Pediatr Nephrol"},{"key":"1008_CR8","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1007\/s00467-005-2091-6","volume":"21","author":"S Kitanaka","year":"2006","unstructured":"Kitanaka S, Sato U, Maruyama K, Igarashi T (2006) A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV. Pediatr Nephrol 21:190\u2013193","journal-title":"Pediatr Nephrol"},{"key":"1008_CR9","doi-asserted-by":"publisher","first-page":"910","DOI":"10.1007\/s00467-006-0090-x","volume":"21","author":"M Zaffanello","year":"2006","unstructured":"Zaffanello M, Taranta A, Palma A, Bettinelli A, Marseglia LG, Emma F (2006) Type IV Bartter syndrome: report of two new cases. Pediatr Nephrol 21:910\u2013916","journal-title":"Pediatr Nephrol"},{"key":"1008_CR10","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1542\/peds.108.1.e5","volume":"108","author":"N Jeck","year":"2001","unstructured":"Jeck N, Reinalter SC, Henne T, Marg W, Mallmann R, Pasel K, Vollmer M, Klaus G, Leonhardt A, Seyberth HW, Konrad M (2001) Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness. Pediatrics 108:1\u20139","journal-title":"Pediatrics"},{"key":"1008_CR11","doi-asserted-by":"publisher","first-page":"970","DOI":"10.1093\/ndt\/15.7.970","volume":"15","author":"M Vollmer","year":"2000","unstructured":"Vollmer M, Jeck N, Lemmink HH, Vargas R, Feldmann D, Konrad M, Beekmann F, van den Heuvel LPWJ, Deschenes G, Guay-Woodford LM, Antignac C, Seyberth HW, Hildebrandt F, Knoers NVAM (2000) Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31. Nephrol Dial Transplant 15:970\u2013974","journal-title":"Nephrol Dial Transplant"},{"key":"1008_CR12","doi-asserted-by":"publisher","first-page":"628","DOI":"10.1542\/peds.112.3.628","volume":"112","author":"H Shalev","year":"2003","unstructured":"Shalev H, Ohali M, Kachko L, Landau D (2003) The neonatal variant of Bartter syndrome and deafness: preservation of renal function. Pediatrics 112:628\u2013633","journal-title":"Pediatrics"},{"key":"1008_CR13","doi-asserted-by":"publisher","first-page":"454","DOI":"10.1002\/ajmg.1320590411","volume":"4","author":"D Landau","year":"1995","unstructured":"Landau D, Shalev H, Ohaly M, Carmi R (1995) Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder. Am J Med Genet 4:454\u2013459","journal-title":"Am J Med Genet"},{"key":"1008_CR14","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1086\/301708","volume":"62","author":"TM Brennan","year":"1998","unstructured":"Brennan TM, Landau D, Shalev H, Lamb F, Schutte BC, Walder RY, Mark AL, Carmi R, Sheffield VC (1998) Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. Am J Hum Genet 62:355\u2013361","journal-title":"Am J Hum Genet"},{"key":"1008_CR15","doi-asserted-by":"publisher","first-page":"296","DOI":"10.1007\/s004670050280","volume":"11","author":"G Madrigal","year":"1997","unstructured":"Madrigal G, Saborio P, Mora F, Rincon G, Guay-Woodford LM (1997) Bartter Syndrome in Costa Rica: a description of 20 cases. Pediatr Nephrol 11:296\u2013301","journal-title":"Pediatr Nephrol"},{"key":"1008_CR16","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1136\/jmg.2007.052944","volume":"45","author":"K Nozu","year":"2008","unstructured":"Nozu K, Inagaki T, Fu XJ, Nozu Y, Kaito H, Kanda K, Sekine T, Igarashi T, Nakanishi K, Yoshikawa N, Iijima K, Matsuo M (2008) Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness. J Med Genet 45:182\u2013186","journal-title":"J Med Genet"},{"key":"1008_CR17","doi-asserted-by":"publisher","first-page":"1981","DOI":"10.1093\/ndt\/gfh893","volume":"20","author":"C Cortesi","year":"2005","unstructured":"Cortesi C, Bettinelli A, Emma F, Fischbach M, Bertolani P, Bianchetti MG (2005) Severe syncope and sudden death in children with inborn salt-losing hypokalaemic tubulopathies. Nephrol Dial Transplant 20:1981\u20131983","journal-title":"Nephrol Dial Transplant"},{"key":"1008_CR18","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1016\/S0031-3955(16)36251-4","volume":"34","author":"GJ Schwartz","year":"1987","unstructured":"Schwartz GJ, Brion LP, Spitzer A (1987) The use of plasma creatinine concentration for estimating glomerular filtration rate in infants, children, and adolescents. Pediatr Clin North Am 34:571\u2013590","journal-title":"Pediatr Clin North Am"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-008-1008-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00467-008-1008-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-008-1008-6","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-008-1008-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,1,16]],"date-time":"2021-01-16T17:18:55Z","timestamp":1610817535000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00467-008-1008-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,4]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,4]]}},"alternative-id":["1008"],"URL":"https:\/\/doi.org\/10.1007\/s00467-008-1008-6","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,4]]},"assertion":[{"value":"10 March 2008","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 August 2008","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 August 2008","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 April 2009","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}