{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T17:58:03Z","timestamp":1793383083990,"version":"4.5.0"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2013,8,15]],"date-time":"2013-08-15T00:00:00Z","timestamp":1376524800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2013,12]]},"DOI":"10.1007\/s00467-013-2584-7","type":"journal-article","created":{"date-parts":[[2013,8,14]],"date-time":"2013-08-14T13:56:58Z","timestamp":1376488618000},"page":"2313-2321","source":"Crossref","is-referenced-by-count":36,"title":["Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy"],"prefix":"10.1007","volume":"28","author":[{"given":"William","family":"Wong","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maxwell Clarke","family":"Morris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tonya","family":"Kara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,8,15]]},"reference":[{"key":"2584_CR1","doi-asserted-by":"crossref","first-page":"2121","DOI":"10.1007\/s00467-007-0633-9","volume":"24","author":"H Jalanko","year":"2009","unstructured":"Jalanko H (2009) Congenital nephrotic syndrome. Pediatr Nephrol 24:2121\u20132128","journal-title":"Pediatr Nephrol"},{"key":"2584_CR2","first-page":"757","volume":"54","author":"M Kestila","year":"1994","unstructured":"Kestila M, Mannikko M, Holmberg C, Gyapay G, Weissenbach J, Savolainen ER, Peltonen L, Tryggvason K (1994) Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19. Am J Hum Genet 54:757\u2013764","journal-title":"Am J Hum Genet"},{"key":"2584_CR3","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1046\/j.1523-1755.2000.00254.x","volume":"58","author":"J Patrakka","year":"2000","unstructured":"Patrakka J, Kestila M, Wartiovaara J, Ruotsalainen V, Tissari P, Lenkkeri U, Mannikko M, Visapaa I, Holmberg C, Rapola J, Tryggvason K, Jalanko H (2000) Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients. Kidney Int 58:972\u2013980","journal-title":"Kidney Int"},{"key":"2584_CR4","doi-asserted-by":"crossref","first-page":"3527","DOI":"10.1093\/ndt\/gfn271","volume":"23","author":"SF Heeringa","year":"2008","unstructured":"Heeringa SF, Vlangos CN, Chernin G, Hinkes B, Gbadegesin R, Liu J, Hoskins BE, Ozaltin F, Hildebrandt F, Members of the APN Study Group (2008) Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. Nephrol Dial Transplant 23:3527\u20133533","journal-title":"Nephrol Dial Transplant"},{"key":"2584_CR5","doi-asserted-by":"crossref","first-page":"e907","DOI":"10.1542\/peds.2006-2164","volume":"119","author":"B Hinkes","year":"2007","unstructured":"Hinkes B, Mucha B, Vlango CN, Gbadegesin R, Liu J, Hasselbacher K, Hangan D, Ozaltin F, Zenker M, Hildebrandt F, Members of the Arbeitsgemeinschaft f\u00fcr Paediatrische Nephrologie Study Group (2007) Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, Wt1 and LAMB2). Pediatrics 119:e907\u2013e919","journal-title":"Pediatrics"},{"key":"2584_CR6","doi-asserted-by":"crossref","first-page":"S106","DOI":"10.1681\/ASN.V11suppl_2s106","volume":"11","author":"C Mrowka","year":"2000","unstructured":"Mrowka C, Schedul A (2000) Wilm\u2019s tumour gene WT1: from structure to renal pathophysiologic features. J Am Soc Nephrol 11:S106\u2013S115","journal-title":"J Am Soc Nephrol"},{"key":"2584_CR7","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1002\/humu.21304","volume":"31","author":"V Matejas","year":"2010","unstructured":"Matejas V, Hinkes B, Alkandari F, Al-Gazali L, Annexstad E, Aytac MB, Barrow M, Kv\u0115ta B, Bockenhauer D, Cheong H, Maruniak-Chudek I, Cochat P, D\u00f6tsch J, Gajjar P, Hennekam RC, Fran\u00e7oise Janssen F, Kagan M, Kariminejad A, Kemper MJ, Koenig J, Kogan J, Kroes HY, Kuwertz-Br\u00f6king E, Lewanda AF, Medeira A, Muscheites J, Niaudet P, Pierson M, Saggar A, Seaver L, Suri M, Tsygin A, W\u00fchl E, Zurowska A, Uebe S, Hildebrandt F, Antignac C, Zenker M (2010) Mutations in the human laminin \u03b22 (LAMB2) gene and the associated phenotypic spectrum. Human Mutat 31:992\u20131002","journal-title":"Human Mutat"},{"key":"2584_CR8","doi-asserted-by":"crossref","first-page":"1291","DOI":"10.1093\/ndt\/gfm759","volume":"23","author":"R Gbadegesin","year":"2008","unstructured":"Gbadegesin R, Hinkes BG, Hoskins BE, Vlangos CN, Heeringa SF, Liu J, Loirat C, Ozaltin F, Hashmi S, Ulmer F, Cleper R, Ettenger R, Antignac C, Wiggins RC, Zenker M, Hildebrandt F (2008) Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). Nephrol Dial Transplant 23:1291\u20131297","journal-title":"Nephrol Dial Transplant"},{"key":"2584_CR9","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1136\/adc.81.2.174","volume":"81","author":"PA Heaton","year":"1999","unstructured":"Heaton PA, Smales O, Wong W (1999) Congenital nephrotic syndrome responsive to captopril and indomethacin. Arch Dis Child 81:174\u2013175","journal-title":"Arch Dis Child"},{"key":"2584_CR10","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1016\/S0022-3476(95)70518-X","volume":"126","author":"A Pomeranz","year":"1995","unstructured":"Pomeranz A, Wolach B, Bernheim J, Korzets Z, Bernheim J (1995) Successful treatment of Finnish congenital nephrotic syndrome with captopril and indomethacin. J Pediatr 126:140\u2013142","journal-title":"J Pediatr"},{"key":"2584_CR11","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1016\/S1097-2765(00)80057-X","volume":"1","author":"M Kestil\u00e4","year":"1998","unstructured":"Kestil\u00e4 M, Lenkkeri U, M\u00e4nnikk\u00f6 M, Lamerdin J, McCready P, Putaala H, Ruotsalainen V, Morita T, Nissinen M, Herva R, Kashtan CE, Peltonen L, Holmberg C, Olsen A, Tryggvason K (1998) Positionally cloned gene for a novel glomerular protein\u2013nephrin\u2013is mutated in congenital nephrotic syndrome. Mol Cell 1:575\u2013582","journal-title":"Mol Cell"},{"key":"2584_CR12","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1007\/s004670050420","volume":"12","author":"S Guez","year":"1998","unstructured":"Guez S, Giani M, Melzi ML, Antignac C, Assael BM (1998) Adequate clinical control of congenital nephrotic syndrome by enalapril. Pediatr Nephrol 12:130\u2013132","journal-title":"Pediatr Nephrol"},{"key":"2584_CR13","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1007\/s00467-003-1167-4","volume":"18","author":"L Kovacevic","year":"2003","unstructured":"Kovacevic L, Reid CJ, Ridgen SPA (2003) Management of congenital nephrotic syndrome. Pediatr Nephrol 18:426\u2013430","journal-title":"Pediatr Nephrol"},{"key":"2584_CR14","doi-asserted-by":"crossref","first-page":"1318","DOI":"10.1053\/j.ajkd.2003.08.041","volume":"42","author":"LS Finn","year":"2003","unstructured":"Finn LS, Symons JM, Smith JS (2003) Nephrotic syndrome in the newborn. Am J Kid Dis 42:1318\u20131323","journal-title":"Am J Kid Dis"},{"key":"2584_CR15","doi-asserted-by":"crossref","first-page":"2637","DOI":"10.1093\/hmg\/10.23.2637","volume":"10","author":"L Lui","year":"2001","unstructured":"Lui L, Don\u00e9 SC, Koshnoodi J, Bertorello A, Wartiovaara J, Berggren P, Tryggvason K (2001) Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insights into mechanisms of congenital nephroitc syndrome. Hum Mol Gen 10:2637\u20132644","journal-title":"Hum Mol Gen"},{"key":"2584_CR16","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1007\/BF00862052","volume":"10","author":"A Fuchshuber","year":"1996","unstructured":"Fuchshuber A, Niaudet P, Gribouval O, Jean G, Gubler MC, Broyer M, Antignac C (1996) Congenital nephrotic syndrome of the Finnish type: linkage to the locus in a non-Finnish population. Pediatr Nephrol 10:135\u2013138","journal-title":"Pediatr Nephrol"},{"key":"2584_CR17","doi-asserted-by":"crossref","first-page":"1785","DOI":"10.1086\/302687","volume":"65","author":"S Bolk","year":"1999","unstructured":"Bolk S, Puffenberger EG, Hudson J, Morton DH, Chakravarti A (1999) Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the Old Order Mennonites. Am J Hum Genet 65:1785\u20131790","journal-title":"Am J Hum Genet"},{"key":"2584_CR18","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1002\/humu.1111","volume":"17","author":"O Beltcheva","year":"2001","unstructured":"Beltcheva O, Martin P, Lenkkeri U, Tryggvason K (2001) Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. Hum Mutat 17:368\u2013373","journal-title":"Hum Mutat"},{"key":"2584_CR19","doi-asserted-by":"crossref","first-page":"1209","DOI":"10.1681\/ASN.2009121309","volume":"21","author":"E Machuca","year":"2010","unstructured":"Machuca E, Benoit G, Nevo F, T\u00eate MJ, Gribouval O, Pawtowski A, Brandstr\u00f6m P, Loirat C, Niaudet P, Gubler MC, Antignac C (2010) Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. J Am Soc Nephrol 21:1209\u20131217","journal-title":"J Am Soc Nephrol"},{"key":"2584_CR20","doi-asserted-by":"crossref","first-page":"c139","DOI":"10.1159\/000337379","volume":"120","author":"B Ovunc","year":"2012","unstructured":"Ovunc B, Ashraf S, Vega-Warner V, Bockenhauer D, Elshakhs NA, Joseph M, Hildebrandt F, Gesellschaft f\u00fcr P\u00e4diatrische Nephrologie (GPN) (2012) Study group mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients. Nephron Clin Pract 120:c139\u2013c146","journal-title":"Nephron Clin Pract"},{"key":"2584_CR21","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1007\/s00467-006-0095-5","volume":"6","author":"KV Lemley","year":"2006","unstructured":"Lemley KV (2006) Neonatal nephrotic presentation of child with a heterozygous NPHS1 mutation. Pediatr Nephrol 6:864\u2013866","journal-title":"Pediatr Nephrol"},{"key":"2584_CR22","doi-asserted-by":"crossref","first-page":"vi36","DOI":"10.1093\/ndt\/gfm090","volume":"22","author":"M Gigante","year":"2007","unstructured":"Gigante M, Defazio V, Iolascon A, Gesualdo L, Wong W (2007) Identification of new NPHS1 mutations and detection of founder-effect haplotype in New Zealand families with congenital nephrotic syndrome of the Finnish type. Nephrol Dial Transplant 22:vi36, FP057","journal-title":"Nephrol Dial Transplant"},{"key":"2584_CR23","doi-asserted-by":"crossref","first-page":"1871","DOI":"10.1681\/ASN.2008010059","volume":"19","author":"A Philippe","year":"2008","unstructured":"Philippe A, Nevo F, Esquivel EL, Reklaityte D, Gribouval O, T\u00eate MJ, Loirat C, Dantal J, Fischbach M, Pouteil-Noble C, Decramer S, Hoehne M, Benzing T, Charbit M, Niaudet P, Antignac C (2008) Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. J Am Soc Nephrol 19:1871\u20131878","journal-title":"J Am Soc Nephrol"},{"key":"2584_CR24","doi-asserted-by":"crossref","first-page":"2837","DOI":"10.1093\/ndt\/gfq434","volume":"25","author":"N Goldenrod","year":"2010","unstructured":"Goldenrod N, Dahan K (2010) Expanding the clinical spectrum of congenital nephrotic syndrome caused by NPHS1 mutations. Nephrol Dial Transplant 25:2837\u20132839","journal-title":"Nephrol Dial Transplant"},{"key":"2584_CR25","doi-asserted-by":"crossref","first-page":"2970","DOI":"10.1093\/ndt\/gfq088","volume":"25","author":"DS Schoeb","year":"2010","unstructured":"Schoeb DS, Chernin G, Heeringa SF, Matejas V, Held S, Vega-Warner V, Bockenhauer D, Vlangos CN, Moorani KN, Neuhaus TJ, Kari JA, MacDonald J, Saisawat P, Ashraf S, Ovunc B, Zenker M, Hildebrandt F, Gesellschaft f\u00fcr Paediatrische Nephrologie (GPN) Study Group (2010) Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). Nephrol Dial Transplant 25:2970\u20132976","journal-title":"Nephrol Dial Transplant"},{"key":"2584_CR26","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1093\/hmg\/11.4.379","volume":"11","author":"A Koziell","year":"2002","unstructured":"Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K, Scambler P (2002) Genotype\/phenotype correlations with NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum Mol Genet 11:378\u2013388","journal-title":"Hum Mol Genet"},{"key":"2584_CR27","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1038\/sj.ki.5001679","volume":"70","author":"K Hassellbacher","year":"2006","unstructured":"Hassellbacher K, Wiggins RC, Matejas V (2006) Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2 associated kidney disorders. Kidney Int 70:1008\u20131012","journal-title":"Kidney Int"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-013-2584-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00467-013-2584-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-013-2584-7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,3]],"date-time":"2022-03-03T19:14:28Z","timestamp":1646334868000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00467-013-2584-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8,15]]},"references-count":27,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["2584"],"URL":"https:\/\/doi.org\/10.1007\/s00467-013-2584-7","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,8,15]]}}}