Nephronophthisis: clinical features and approach to the diagnosis
Author:
Affiliation:
1. Department of Pediatrics, Kindai University Faculty of Medicine
Publisher
Japanese Society for Pediatric Nephrology
Subject
Literature and Literary Theory,History,Cultural Studies
Link
https://www.jstage.jst.go.jp/article/jjpn/30/2/30_rv.2017.0002/_pdf
Reference36 articles.
1. 1) Hildebrandt F, Otto E: Molecular genetics of nephronophthisis and medullary cystic kidney disease. J Am Soc Nephrol 2000; 11: 1753–1761.
2. 3) Salomon R, Saunier S, Niaudet P: Nephronophthisis. Pediatr Nephrol 2009; 24: 2333–2344.
3. 4) Waldherr R, Lennert T, Weber HP, Födisch HJ, Schärer K: The nephronophthisis complex. A clinicopathologic study in children. Virchows Arch A Pathol Anat Histol 1982; 394: 235–254.
4. 5) Potter DE, Holliday MA, Piel CF, Feduska NJ, Belzer FO, Salvatierra O: Treatment of end-stage renal disease in children: a 15-year experience. Kidney Int 1980; 18: 103–109.
5. 6) Ala-Mello S, Sankila EM, Koskimies O, de la Chapelle A, Kääriäinen H: Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism. J Med Genet 1998; 35: 279–283.
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