{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T00:04:49Z","timestamp":1759536289266,"version":"build-2065373602"},"reference-count":16,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2004,3,1]],"date-time":"2004-03-01T00:00:00Z","timestamp":1078099200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2004,3,1]],"date-time":"2004-03-01T00:00:00Z","timestamp":1078099200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["ajkd.org","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["American Journal of Kidney Diseases"],"published-print":{"date-parts":[[2004,3]]},"DOI":"10.1053\/j.ajkd.2003.11.013","type":"journal-article","created":{"date-parts":[[2004,2,23]],"date-time":"2004-02-23T13:28:34Z","timestamp":1077542914000},"page":"538-543","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"title":["Advanced renal insufficiency in a 34-year-old man with Lowe syndrome"],"prefix":"10.1053","volume":"43","author":[{"given":"Lothar","family":"Schramm","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Gal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josef","family":"Zimmermann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kai-Olaf","family":"Netzer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ekkehart","family":"Heidbreder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kai","family":"Lopau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hermann","family":"Gr\u00f6ne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christoph","family":"Wanner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1053\/j.ajkd.2003.11.013_BIB1","first-page":"164","article-title":"Organic aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation","volume":"83","author":"Lowe","year":"1952","journal-title":"Am J Dis Child"},{"key":"10.1053\/j.ajkd.2003.11.013_BIB2","doi-asserted-by":"crossref","first-page":"1318","DOI":"10.1056\/NEJM199105093241904","article-title":"Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function","volume":"324","author":"Charnas","year":"1991","journal-title":"N Engl J Med"},{"key":"10.1053\/j.ajkd.2003.11.013_BIB3","series-title":"The Metabolic and Molecular Basis of Inherited Disease","first-page":"6257","article-title":"The oculocerebrorenal syndrome of Lowe (Lowe syndrome)","author":"Nussbaum","year":"2002"},{"key":"10.1053\/j.ajkd.2003.11.013_BIB4","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/S0065-3101(24)00260-3","article-title":"The oculocerebrorenal syndrome of Lowe","volume":"38","author":"Charnas","year":"1991","journal-title":"Adv Pediatr"},{"key":"10.1053\/j.ajkd.2003.11.013_BIB5","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1007\/s004390050329","article-title":"Physical mapping and genomic structure of the Lowe syndrome gene OCRL1","volume":"99","author":"Nussbaum","year":"1997","journal-title":"Hum Genet"},{"key":"10.1053\/j.ajkd.2003.11.013_BIB6","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1006\/mgme.1998.2687","article-title":"Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients","volume":"64","author":"Lin","year":"1998","journal-title":"Mol Genet Metab"},{"key":"10.1053\/j.ajkd.2003.11.013_BIB7","series-title":"Methods in Molecular Genetics","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/S1067-2389(96)80036-7","article-title":"Simple and nonisotopic methods to detect unknown gene mutations in nucleic acids","author":"Bunge","year":"1996"},{"key":"10.1053\/j.ajkd.2003.11.013_BIB8","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/S0161-6420(99)90012-X","article-title":"Molecular confirmation of carriers for Lowe syndrome","volume":"106","author":"Lin","year":"1999","journal-title":"Ophthalmology"},{"year":"2003","series-title":"The National Human Genome Research Institute","key":"10.1053\/j.ajkd.2003.11.013_BIB9"},{"key":"10.1053\/j.ajkd.2003.11.013_BIB10","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1016\/0002-9343(59)90193-7","article-title":"Lowe syndrome","volume":"27","author":"Schoen","year":"1959","journal-title":"Am J Med"},{"key":"10.1053\/j.ajkd.2003.11.013_BIB11","first-page":"185","article-title":"The oculocerebrorenal syndrome of Lowe","volume":"109","author":"Richards","year":"1965","journal-title":"Am J Dis Child"},{"key":"10.1053\/j.ajkd.2003.11.013_BIB12","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1159\/000179583","article-title":"The histologic lesions of the kidney in the oculo-cerebro-renal syndrome of Lowe","volume":"4","author":"van Acker","year":"1967","journal-title":"Nephron"},{"key":"10.1053\/j.ajkd.2003.11.013_BIB13","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/0002-9343(68)90163-0","article-title":"Progressive morphologic renal changes in the oculo-cerebro-renal syndrome of Lowe","volume":"44","author":"Witzleben","year":"1968","journal-title":"Am J Med"},{"key":"10.1053\/j.ajkd.2003.11.013_BIB14","doi-asserted-by":"crossref","first-page":"1923","DOI":"10.1093\/ndt\/gfg294","article-title":"End-stage renal failure in Lowe syndrome","volume":"18","author":"Tricot","year":"2003","journal-title":"Nephrol Dial Transplant"},{"year":"2003","series-title":"General Medical Council: Withholding and Withdrawing Life-Prolonging Treatments: Good Practice in Decision Making","key":"10.1053\/j.ajkd.2003.11.013_BIB15"},{"key":"10.1053\/j.ajkd.2003.11.013_BIB16","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1053\/ajkd.1998.v31.pm9506689","article-title":"Kidney transplantation in recipients with mental retardation","volume":"31","author":"Benedetti","year":"1998","journal-title":"Am J Kidney Dis"}],"container-title":["American Journal of Kidney Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0272638603015130?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0272638603015130?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T01:22:41Z","timestamp":1759454561000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0272638603015130"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,3]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2004,3]]}},"alternative-id":["S0272638603015130"],"URL":"https:\/\/doi.org\/10.1053\/j.ajkd.2003.11.013","relation":{},"ISSN":["0272-6386"],"issn-type":[{"type":"print","value":"0272-6386"}],"subject":[],"published":{"date-parts":[[2004,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Advanced renal insufficiency in a 34-year-old man with Lowe syndrome","name":"articletitle","label":"Article Title"},{"value":"American Journal of Kidney Diseases","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1053\/j.ajkd.2003.11.013","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2004 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}