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Volumn 23, Issue 1, 2008, Pages 149-153

Report of a family with two different hereditary diseases leading to early nephrocalcinosis

Author keywords

Child; Distal renal tubular acidosis; Familial hypomagnesemia with hypercalciuria and nephrocalcinosis; Hypercalciuria; Nephrocalcinosis

Indexed keywords

BICARBONATE;

EID: 37049011416     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-007-0584-1     Document Type: Article
Times cited : (14)

References (16)
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    • 5th edn. Lippincot William & Wilkins, Philadelphia
    • Cochat P, Collard L (2004) Pediatric nephrology, 5th edn. Lippincot William & Wilkins, Philadelphia, pp 807-816
    • (2004) Pediatric Nephrology , pp. 807-816
    • Cochat, P.1    Collard, L.2
  • 2
    • 0036068625 scopus 로고    scopus 로고
    • Renal tubular acidosis: The clinical entity
    • Rodriguez-Soriano J (2002) Renal tubular acidosis: The clinical entity. J Am Soc Nephrol 13:2160-2170
    • (2002) J Am Soc Nephrol , vol.13 , pp. 2160-2170
    • Rodriguez-Soriano, J.1
  • 11
    • 33748776549 scopus 로고    scopus 로고
    • An unusual patient with hypercalciuria, recurrent nephrolithiasis, hypomagnesemia and G227R mutation of paracellin-1. An unusual patient with hypercalciuria and hypomagnesemia unresponsive to thiazide diuretics
    • Kutluturk F, Temel B, Uslu B, Aral F, Azezli A, Orhan Y, Konrad M, Ozbey N (2006) An unusual patient with hypercalciuria, recurrent nephrolithiasis, hypomagnesemia and G227R mutation of paracellin-1. An unusual patient with hypercalciuria and hypomagnesemia unresponsive to thiazide diuretics. Horm Res 66:175-181
    • (2006) Horm Res , vol.66 , pp. 175-181
    • Kutluturk, F.1    Temel, B.2    Uslu, B.3    Aral, F.4    Azezli, A.5    Orhan, Y.6    Konrad, M.7    Ozbey, N.8
  • 12
    • 0028361174 scopus 로고
    • Pathophysiology of the renal acidification defect present in the syndrome of familial hypomagnesaemia-hypercalciuria
    • Rodriguez-Soriano J, Vallo A (1994) Pathophysiology of the renal acidification defect present in the syndrome of familial hypomagnesaemia-hypercalciuria. Pediatr Nephrol 8:431-435
    • (1994) Pediatr Nephrol , vol.8 , pp. 431-435
    • Rodriguez-Soriano, J.1    Vallo, A.2
  • 13
    • 0036956994 scopus 로고    scopus 로고
    • Follow-up of five patients with FHHNC due to mutations in the paracellin-1 gene
    • Wolf MT, Dotsch J, Konrad M, Boswald M, Rascher W (2002) Follow-up of five patients with FHHNC due to mutations in the paracellin-1 gene. Pediatr Nephrol 17:602-608
    • (2002) Pediatr Nephrol , vol.17 , pp. 602-608
    • Wolf, M.T.1    Dotsch, J.2    Konrad, M.3    Boswald, M.4    Rascher, W.5
  • 14
    • 33645526664 scopus 로고    scopus 로고
    • Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of claudin-16
    • Kausalya PJ, Amasheh S, Gunzel D, Wurps H, Müller D, Fromm M, Hunziker W (2006) Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of claudin-16. J Clin Invest 116:878-891
    • (2006) J Clin Invest , vol.116 , pp. 878-891
    • Kausalya, P.J.1    Amasheh, S.2    Gunzel, D.3    Wurps, H.4    Müller, D.5    Fromm, M.6    Hunziker, W.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.