{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,5,13]],"date-time":"2022-05-13T05:10:28Z","timestamp":1652418628563},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2015,6,14]],"date-time":"2015-06-14T00:00:00Z","timestamp":1434240000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Internist"],"published-print":{"date-parts":[[2015,7]]},"DOI":"10.1007\/s00108-015-3672-5","type":"journal-article","created":{"date-parts":[[2015,6,15]],"date-time":"2015-06-15T07:52:43Z","timestamp":1434354763000},"page":"739-744","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Elektrolytst\u00f6rungen als Merkmal monogenetischer Erkrankungen"],"prefix":"10.1007","volume":"56","author":[{"given":"K.","family":"Schr\u00f6der","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"M\u00fcller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2015,6,14]]},"reference":[{"key":"3672_CR1","doi-asserted-by":"crossref","unstructured":"Acu\u00f1a R, Mart\u00ednez-de-la-Maza L, Ponce-Coria\u00a0J et\u00a0al (2011) Rare mutations in SLC12A1 and SLC12A3 protect against hypertension by reducing the activity of renal salt cotransporters. J\u00a0Hypertens 29:475\u2013483","DOI":"10.1097\/HJH.0b013e328341d0fd"},{"key":"3672_CR2","doi-asserted-by":"crossref","unstructured":"Bartter FC, Pronove P, Gill JR et\u00a0al (1998) Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. 1962. J\u00a0Am Soc Nephrol 9:516\u2013528","DOI":"10.1681\/ASN.V93516"},{"key":"3672_CR3","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng752","volume":"29","author":"Birkenhager","year":"2001","unstructured":"Birkenhager R, Otto E, Schurmann MJ et\u00a0al (2001) Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet 29:310\u2013314","journal-title":"Nat Genet"},{"key":"3672_CR4","doi-asserted-by":"crossref","first-page":"2087","DOI":"10.1038\/sj.ki.5000447","volume":"69","author":"Canaud","year":"2006","unstructured":"Canaud B, Bragg-Gresham JL, Marshall MR et\u00a0al (2006) Mortality risk for patients receiving hemodiafiltration versus hemodialysis: European results from the DOPPS. Kidney Int 69:2087\u20132093","journal-title":"Kidney Int"},{"key":"3672_CR5","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1046\/j.1523-1755.2001.059002710.x","volume":"59","author":"Cruz","year":"2001","unstructured":"Cruz DN, Shaer AJ, Bia MJ et\u00a0al (2001) Gitelman\u2019s syndrome revisited: an evaluation of symptoms and health-related quality of life. Kidney Int 59:710\u2013717","journal-title":"Kidney Int"},{"key":"3672_CR6","doi-asserted-by":"crossref","first-page":"1458","DOI":"10.1161\/01.HYP.37.6.1458","volume":"37","author":"Cruz","year":"2001","unstructured":"Cruz DN, Simon DB, Nelson-Williams C et\u00a0al (2001) Mutations in the Na-Cl cotransporter reduce blood pressure in humans. Hypertension 37:1458\u20131464","journal-title":"Hypertension"},{"key":"3672_CR7","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1038\/35107099","volume":"414","author":"Estevez","year":"2001","unstructured":"Estevez R, Boettger T, Stein V et\u00a0al (2001) Barttin is a Cl-\u00a0channel beta-subunit crucial for renal Cl-\u00a0reabsorption and inner ear K+\u00a0secretion. Nature 414:558\u2013561","journal-title":"Nature"},{"key":"3672_CR8","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1038\/ng.118","volume":"40","author":"Ji","year":"2008","unstructured":"Ji W, Foo JN, O\u2019Roak BJ et\u00a0al (2008) Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet 40:592\u2013599","journal-title":"Nat Genet"},{"key":"3672_CR9","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1086\/508617","volume":"79","author":"Konrad","year":"2006","unstructured":"Konrad M, Schaller A, Seelow D et\u00a0al (2006) Mutations in the tight-junction gene claudin\u00a019 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. Am J Hum Genet 79:949\u2013957","journal-title":"Am J Hum Genet"},{"key":"3672_CR10","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1086\/380418","volume":"73","author":"Muller","year":"2003","unstructured":"Muller D, Kausalya PJ, Claverie-Martin F et\u00a0al (2003) A novel claudin\u00a016 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting. Am J Hum Genet 73:1293\u20131301","journal-title":"Am J Hum Genet"},{"key":"3672_CR11","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1093\/hmg\/ddl020","volume":"15","author":"Muller","year":"2006","unstructured":"Muller D, Kausalya PJ, Meij IC et\u00a0al (2006) Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: blocking endocytosis restores surface expression of a novel claudin-16 mutant that lacks the entire C-terminal cytosolic tail. Hum Mol Genet 15:1049\u20131058","journal-title":"Hum Mol Genet"},{"key":"3672_CR12","doi-asserted-by":"crossref","unstructured":"Schlingmann KP, Sassen MC, Weber S et\u00a0al (2005) Novel TRPM6 mutations in 21\u00a0families with primary hypomagnesemia and secondary hypocalcemia. J\u00a0Am Soc Nephrol 16:3061\u20133069","DOI":"10.1681\/ASN.2004110989"},{"key":"3672_CR13","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/ng1097-171","volume":"17","author":"Simon","year":"1997","unstructured":"Simon DB, Bindra RS, Mansfield TA et\u00a0al (1997) Mutations in the chloride channel gene, CLCNKB, cause Bartter\u2019s syndrome type\u00a0III. Nat Genet 17:171\u2013178","journal-title":"Nat Genet"},{"key":"3672_CR14","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1016\/S0955-0674(98)80057-4","volume":"10","author":"Simon","year":"1998","unstructured":"Simon DB, Lifton RP (1998) Mutations in Na(K)Cl transporters in Gitelman\u2019s and Bartter\u2019s syndromes. Curr Opin Cell Biol 10:450\u2013454","journal-title":"Curr Opin Cell Biol"},{"key":"3672_CR15","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1126\/science.285.5424.103","volume":"285","author":"Simon","year":"1999","unstructured":"Simon DB, Lu Y, Choate KA et\u00a0al (1999) Paracellin-1, a renal tight junction protein required for paracellular Mg2+\u00a0resorption. Science 285:103\u2013106","journal-title":"Science"},{"key":"3672_CR16","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/ng0196-24","volume":"12","author":"Simon","year":"1996","unstructured":"Simon DB, Nelson-Williams C, Bia MJ et\u00a0al (1996) Gitelman\u2019s variant of Bartter\u2019s syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 12:24\u201330","journal-title":"Nat Genet"},{"key":"3672_CR17","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/j.ajhg.2011.02.005","volume":"88","author":"Stuiver","year":"2011","unstructured":"Stuiver M, Lainez S, Will C et\u00a0al (2011) CNNM2, encoding a basolateral protein required for renal Mg2+\u00a0handling, is mutated in dominant hypomagnesemia. Am J Hum Genet 88:333\u2013343","journal-title":"Am J Hum Genet"},{"key":"3672_CR18","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1007\/s00467-006-0106-6","volume":"21","author":"Xie","year":"2006","unstructured":"Xie J, Craig L, Cobb M et\u00a0al (2006) Role of with-no-lysine [K] kinases in the pathogenesis of Gordon\u2019s syndrome. Pediatr Nephrol 21:1231\u20131236","journal-title":"Pediatr Nephrol"},{"key":"3672_CR19","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1007\/s00795-003-0219-y","volume":"36","author":"Sawada","year":"2003","unstructured":"Sawada N, Murata M, Kikuchi K et\u00a0al (2003) Tight junctions and human diseases. Med Electron Microsc 36:147\u2013156","journal-title":"Med Electron Microsc"}],"container-title":["Der Internist"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00108-015-3672-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00108-015-3672-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00108-015-3672-5","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,5,13]],"date-time":"2022-05-13T04:48:30Z","timestamp":1652417310000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00108-015-3672-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,6,14]]},"references-count":19,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2015,7]]}},"alternative-id":["3672"],"URL":"https:\/\/doi.org\/10.1007\/s00108-015-3672-5","relation":{},"ISSN":["0020-9554","1432-1289"],"issn-type":[{"value":"0020-9554","type":"print"},{"value":"1432-1289","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,6,14]]}}}