{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T17:26:06Z","timestamp":1695489966384},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2014,10,10]],"date-time":"2014-10-10T00:00:00Z","timestamp":1412899200000},"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":["Indian J Pediatr"],"published-print":{"date-parts":[[2015,1]]},"DOI":"10.1007\/s12098-014-1581-6","type":"journal-article","created":{"date-parts":[[2014,10,8]],"date-time":"2014-10-08T22:20:48Z","timestamp":1412806848000},"page":"89-92","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Novel Mutation of OCRL1 in Lowe Syndrome"],"prefix":"10.1007","volume":"82","author":[{"given":"Ting","family":"Liu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhihui","family":"Yue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haiyan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huajuan","family":"Tong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liangzhong","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2014,10,10]]},"reference":[{"key":"1581_CR1","doi-asserted-by":"crossref","unstructured":"Loi M. Lowe syndrome. Orphanet J Rare Dis. 2006;1:16.","DOI":"10.1186\/1750-1172-1-16"},{"key":"1581_CR2","doi-asserted-by":"crossref","unstructured":"Bockenhauer D, Bokenkamp A, van\u2019t Hoff W, Levtchenko E, Kist-van Holthe JE, Tasic V, et al. Renal phenotype in Lowe syndrome: a selective proximal tubular dysfunction. Clin J Am Soc Nephrol. 2008;3:1430\u20136.","DOI":"10.2215\/CJN.00520108"},{"key":"1581_CR3","doi-asserted-by":"crossref","unstructured":"Yue Z, Pei Y, Sun L, Huang W, Huang H, Hu B, et al. Clinical pictures and novel mutations of WT1-associated\u00a0Denys-Drash syndrome in two Chinese children. Ren Fail. 2011;33:910\u20134.","DOI":"10.3109\/0886022X.2011.605528"},{"key":"1581_CR4","unstructured":"David BM, Alan SL. Transport of inorganic solutes: sodium, chloride, potassium, magnesium, calcium, and phosphate. In: Barry MB, editor. Brenner and Rector\u2019s the Kidney. 8th ed. Philadelphia: Saunders Elsevier; 2007. p. 156\u2013200."},{"key":"1581_CR5","doi-asserted-by":"crossref","unstructured":"Roschinger W, Muntau AC, Rudolph G, Roscher AA, Kammerer S. Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination. Mol Genet Metab. 2000;69:213\u201322.","DOI":"10.1006\/mgme.1999.2955"},{"key":"1581_CR6","doi-asserted-by":"crossref","unstructured":"Lin T, Lewis RA, Nussbaum RL. Molecular confirmation of carriers for Lowe syndrome. Ophthalmology. 1999;106:119\u201322.","DOI":"10.1016\/S0161-6420(99)90012-X"},{"key":"1581_CR7","doi-asserted-by":"crossref","unstructured":"Cho HY, Lee BH, Choi HJ, Ha IS, Choi Y, Cheong HI. Renal manifestations of Dent disease and Lowe syndrome. Pediatr Nephrol. 2008;23:243\u20139.","DOI":"10.1007\/s00467-007-0686-9"},{"key":"1581_CR8","doi-asserted-by":"crossref","unstructured":"Pirruccello M, De Camilli P. Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL. Trends Biochem Sci. 2012;37:134\u201343.","DOI":"10.1016\/j.tibs.2012.01.002"},{"key":"1581_CR9","doi-asserted-by":"crossref","unstructured":"Hichri H, Rendu J, Monnier N, Coutton C, Dorseuil O, Poussou RV, et al. From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes. Hum Mutat. 2011;32:379\u201388.","DOI":"10.1002\/humu.21391"},{"key":"1581_CR10","doi-asserted-by":"crossref","unstructured":"Lin T, Orrison BM, Leahey AM, Suchy SF, Bernard DJ, Lewis RA, et al. Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. Am J Hum Genet. 1997;60:1384\u20138.","DOI":"10.1086\/515471"}],"container-title":["The Indian Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-014-1581-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12098-014-1581-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-014-1581-6","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,6,1]],"date-time":"2019-06-01T23:59:19Z","timestamp":1559433559000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12098-014-1581-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,10,10]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,1]]}},"alternative-id":["1581"],"URL":"https:\/\/doi.org\/10.1007\/s12098-014-1581-6","relation":{},"ISSN":["0019-5456","0973-7693"],"issn-type":[{"value":"0019-5456","type":"print"},{"value":"0973-7693","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,10,10]]}}}