{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T22:49:42Z","timestamp":1762642182899,"version":"3.41.2"},"reference-count":29,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2018,12,7]],"date-time":"2018-12-07T00:00:00Z","timestamp":1544140800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"DOI":"10.3389\/fmed.2018.00347","type":"journal-article","created":{"date-parts":[[2018,12,7]],"date-time":"2018-12-07T04:29:44Z","timestamp":1544156984000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Next-Generation Sequencing in Early Diagnosis of Dent Disease 1: Two Case Reports"],"prefix":"10.3389","volume":"5","author":[{"given":"Min","family":"Wen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tian","family":"Shen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongzhen","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoliu","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiqiang","family":"Dang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2018,12,7]]},"reference":[{"key":"B1","article-title":"Dent disease","volume-title":"GeneReviews((R)).","author":"Lieske","year":"1993"},{"key":"B2","doi-asserted-by":"publisher","first-page":"1615","DOI":"10.1111\/j.1523-1755.2004.00571.x","article-title":"Evidence for genetic heterogeneity in Dent's disease","volume":"65","author":"Hoopes","year":"2004","journal-title":"Kidney Int"},{"key":"B3","doi-asserted-by":"publisher","first-page":"693","DOI":"10.1007\/s00467-010-1657-0","article-title":"Dent's disease: clinical features and molecular basis","volume":"26","author":"Claverie-Martin","year":"2011","journal-title":"Pediatr Nephrol"},{"key":"B4","doi-asserted-by":"publisher","first-page":"222","DOI":"10.5414\/CN108522","article-title":"Dent disease in children: diagnostic and therapeutic considerations","volume":"84","author":"Szczepanska","year":"2015","journal-title":"Clin Nephrol"},{"key":"B5","doi-asserted-by":"publisher","first-page":"914","DOI":"10.2215\/CJN.00900207","article-title":"Hypothesis: Dent disease is an underrecognized cause of focal glomerulosclerosis","volume":"2","author":"Copelovitch","year":"2007","journal-title":"Clin J Am Soc Nephrol"},{"key":"B6","doi-asserted-by":"publisher","first-page":"747","DOI":"10.1111\/ped.12944","article-title":"Does Dent disease remain an underrecognized cause for young boys with focal glomerulosclerosis?","volume":"58","author":"Kubo","year":"2016","journal-title":"Pediatr Int"},{"key":"B7","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1007\/s12519-014-0504-y","article-title":"A novel CLCN5 mutation in a Chinese boy with Dent's disease","volume":"10","author":"Ji","year":"2014","journal-title":"World J Pediatr"},{"key":"B8","doi-asserted-by":"publisher","first-page":"1851","DOI":"10.1007\/s00467-016-3499-x","article-title":"Proteinuria in Dent disease: a review of the literature","volume":"10","author":"van Berkel","year":"2016","journal-title":"Pediatr Nephrol"},{"key":"B9","doi-asserted-by":"publisher","first-page":"297","DOI":"10.5582\/irdr.2016.01058","article-title":"Dent's disease complicated by nephrotic syndrome: a case report","volume":"5","author":"He","year":"2016","journal-title":"Intractable Rare Dis Res"},{"key":"B10","first-page":"79","article-title":"Urine protein electrophoresis and immunofixation electrophoresis supplement one another in characterizing proteinuria","volume":"30","author":"Levinson","year":"2000","journal-title":"Ann Clin Lab Sci."},{"key":"B11","doi-asserted-by":"publisher","first-page":"814","DOI":"10.3889\/oamjms.2018.22","article-title":"The spectrum of kidney diseases in children associated with low molecular weight proteinuria","volume":"6","author":"Salihu","year":"2018","journal-title":"Open Access Maced J Med Sci."},{"key":"B12","doi-asserted-by":"publisher","first-page":"698","DOI":"10.1046\/j.1523-1755.1998.00061.x","article-title":"CLCN5 chloride-channel mutations in six new North American families with X-linked nephrolithiasis","volume":"54","author":"Hoopes","year":"1998","journal-title":"Kidney Int"},{"key":"B13","doi-asserted-by":"publisher","first-page":"476","DOI":"10.1002\/humu.21467","article-title":"Heterogeneity in the processing of CLCN5 mutants related to Dent disease","volume":"32","author":"Grand","year":"2011","journal-title":"Hum Mutat"},{"key":"B14","doi-asserted-by":"publisher","first-page":"2452","DOI":"10.1093\/ndt\/gfl274","article-title":"Phenotypic and genetic heterogeneity in Dent's disease\u2013the results of an Italian collaborative study","volume":"21","author":"Tosetto","year":"2006","journal-title":"Nephrol Dial Transplant"},{"key":"B15","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"B16","doi-asserted-by":"publisher","first-page":"743","DOI":"10.1002\/humu.22804","article-title":"Mutation update of the CLCN5 gene responsible for Dent disease 1","volume":"36","author":"Mansour-Hendili","year":"2015","journal-title":"Hum Mutat"},{"key":"B17","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1007\/s00467-009-1381-9","article-title":"Proteinuria and events beyond the slit","volume":"25","author":"Nielsen","year":"2010","journal-title":"Pediatr Nephrol"},{"key":"B18","doi-asserted-by":"publisher","first-page":"46","DOI":"10.5582\/irdr.2017.01079","article-title":"The ratio of urinary alpha1-microglobulin to microalbumin can be used as a diagnostic criterion for tubuloproteinuria","volume":"7","author":"Zhang","year":"2018","journal-title":"Intractable Rare Dis Res"},{"key":"B19","doi-asserted-by":"publisher","first-page":"41","DOI":"10.5582\/irdr.2016.01088","article-title":"Diagnosis and treatment of Dent disease in 10 Chinese boys","volume":"6","author":"He","year":"2017","journal-title":"Intractable Rare Dis Res"},{"key":"B20","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1016\/j.kint.2016.04.022","article-title":"Observations of a large Dent disease cohort","volume":"90","author":"Blanchard","year":"2016","journal-title":"Kidney Int"},{"key":"B21","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1007\/s00467-007-0528-9","article-title":"Screening for hypercalciuria in schoolchildren: what should be the criteria for diagnosis?","volume":"22","author":"Koyun","year":"2007","journal-title":"Pediatr Nephrol"},{"key":"B22","first-page":"6","article-title":"Reference values for urinary calcium, sodium and potassium in healthy newborns, infants and children","volume":"51","author":"Erol","year":"2009","journal-title":"Turk J pediatr"},{"key":"B23","doi-asserted-by":"publisher","first-page":"377","DOI":"10.5414\/cn107429","article-title":"A novel CLCN5 mutation in a boy with asymptomatic proteinuria and focal global glomerulosclerosis","volume":"80","author":"Valina","year":"2013","journal-title":"Clin Nephrol"},{"key":"B24","doi-asserted-by":"publisher","first-page":"2168","DOI":"10.2215\/CJN.03710416","article-title":"Glomerular pathology in Dent disease and its association with kidney function","volume":"11","author":"Wang","year":"2016","journal-title":"Clin J Am Soc Nephrol"},{"key":"B25","doi-asserted-by":"publisher","first-page":"376","DOI":"10.1093\/ndt\/gft394","article-title":"Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe\/USA: genetic and clinical studies of 86 unrelated patients with low-molecular-weight proteinuria","volume":"29","author":"Sekine","year":"2014","journal-title":"Nephrol Dial Transplant"},{"key":"B26","doi-asserted-by":"publisher","first-page":"1151","DOI":"10.1089\/dna.2017.3731","article-title":"Genetic analysis of Dent's disease and functional research of CLCN5 mutations","volume":"36","author":"Zhang","year":"2017","journal-title":"DNA Cell Biol"},{"key":"B27","doi-asserted-by":"publisher","first-page":"133","DOI":"10.3233\/PGE-13061","article-title":"Dent's disease: identification of seven new pathogenic mutations in the CLCN5 gene","volume":"2","author":"Ramos-Trujillo","year":"2013","journal-title":"J Pediatr Genet"},{"key":"B28","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1007\/s00467-016-3472-8","article-title":"Phenotypic variability of Dent disease in a large New Zealand kindred","volume":"32","author":"Wong","year":"2017","journal-title":"Pediatr Nephrol"},{"key":"B29","doi-asserted-by":"publisher","first-page":"114","DOI":"10.5582\/irdr.2017.01019","article-title":"Dent disease: same CLCN5 mutation but different phenotypes in two brothers in China","volume":"6","author":"Zhang","year":"2017","journal-title":"Intractable Rare Dis Res"}],"container-title":["Frontiers in Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fmed.2018.00347\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,12,7]],"date-time":"2018-12-07T04:29:47Z","timestamp":1544156987000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fmed.2018.00347\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12,7]]},"references-count":29,"alternative-id":["10.3389\/fmed.2018.00347"],"URL":"https:\/\/doi.org\/10.3389\/fmed.2018.00347","relation":{},"ISSN":["2296-858X"],"issn-type":[{"type":"electronic","value":"2296-858X"}],"subject":[],"published":{"date-parts":[[2018,12,7]]},"article-number":"347"}}