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Volumn 18, Issue 8, 2003, Pages 830-832

Defective proximal tubular function in a patient with I-cell disease

Author keywords

Dent disease; I cell disease; Proximal tubular dysfunction

Indexed keywords

CALCITRIOL; CHLORIDE CHANNEL; PROTEINASE;

EID: 0043133397     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-003-1213-2     Document Type: Article
Times cited : (6)

References (13)
  • 3
    • 0024395690 scopus 로고
    • Neonatal mucolipidasis 2. The spontaneous evolution of early bone lesions and the effect of vitamin D treatment. Report of two cases
    • Pazzaglia UE, Beluffi G, Danesino C, Frediani PV, Pagani G, Zatti G (1989) Neonatal mucolipidasis 2. The spontaneous evolution of early bone lesions and the effect of vitamin D treatment. Report of two cases. Pediatr Radiol 20:80-84
    • (1989) Pediatr. Radiol. , vol.20 , pp. 80-84
    • Pazzaglia, U.E.1    Beluffi, G.2    Danesino, C.3    Frediani, P.V.4    Pagani, G.5    Zatti, G.6
  • 5
    • 0022572229 scopus 로고
    • Trafficking of lysosomal enzymes in normal and disease states
    • Kornfeld S (1986) Trafficking of lysosomal enzymes in normal and disease states. J Clin Invest 77:1-6
    • (1986) J. Clin. Invest. , vol.77 , pp. 1-6
    • Kornfeld, S.1
  • 6
    • 0027716372 scopus 로고
    • Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22
    • Pook MA, Wrong O, Wooding C, Norden AG, Feest TG, Thakker RV (1993) Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22. Hum Mol Genet 2:2129-2134
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 2129-2134
    • Pook, M.A.1    Wrong, O.2    Wooding, C.3    Norden, A.G.4    Feest, T.G.5    Thakker, R.V.6
  • 7
    • 0033852423 scopus 로고    scopus 로고
    • Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease
    • Igarashi T, Inatomi J, Ohara T, Kuwahara T, Shimadzu M, Thakke RV (2000) Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease. Kidney Int 58:520-527
    • (2000) Kidney Int. , vol.58 , pp. 520-527
    • Igarashi, T.1    Inatomi, J.2    Ohara, T.3    Kuwahara, T.4    Shimadzu, M.5    Thakke, R.V.6
  • 8
    • 0036083537 scopus 로고    scopus 로고
    • Molecular structure and physiological function of chloride channels
    • Jentsch TJ, Stein V, Weinreich F, Zdebib AA (2002) Molecular structure and physiological function of chloride channels. Physiol Rev 82:503-568
    • (2002) Physiol. Rev. , vol.82 , pp. 503-568
    • Jentsch, T.J.1    Stein, V.2    Weinreich, F.3    Zdebib, A.A.4
  • 9
    • 0036736777 scopus 로고    scopus 로고
    • Physiological importance of endosomal acidification: Potential role in proximal tubulopathies
    • Marshansky V, Ausiello DA, Brown D (2002) Physiological importance of endosomal acidification: potential role in proximal tubulopathies. Curr Opin Nephrol Hypertens 11:527-537
    • (2002) Curr. Opin. Nephrol. Hypertens. , vol.11 , pp. 527-537
    • Marshansky, V.1    Ausiello, D.A.2    Brown, D.3
  • 10
    • 0036889495 scopus 로고    scopus 로고
    • Chloride channels in the kidney: Lessons learned from knock-out animals
    • Devuyst OO, Guggino WR (2002) Chloride channels in the kidney: lessons learned from knock-out animals. Am J Physiol Renal Physiol 283: F1176-F1191
    • (2002) Am. J. Physiol. Renal. Physiol. , vol.283
    • Devuyst, O.O.1    Guggino, W.R.2
  • 11
    • 0031749366 scopus 로고    scopus 로고
    • Cadmium inhibits vacuolar H+ ATPase and endocytosis in rat kidney cortex
    • Herak-Kramberger CM, Brown D, Sabolic I (1998) Cadmium inhibits vacuolar H+ ATPase and endocytosis in rat kidney cortex. Kidney Int 53:1713-1726
    • (1998) Kidney Int. , vol.53 , pp. 1713-1726
    • Herak-Kramberger, C.M.1    Brown, D.2    Sabolic, I.3
  • 12
    • 0036406956 scopus 로고    scopus 로고
    • Cisplatin-induced inhibition of receptor-mediated endocytosis of protein in the kidney
    • Takano M, Nakanishi N, Kitahara Y, Sasaki Y, Murakami T, Nagat J (2002) Cisplatin-induced inhibition of receptor-mediated endocytosis of protein in the kidney. Kidney Int 62:1707-1717
    • (2002) Kidney Int. , vol.62 , pp. 1707-1717
    • Takano, M.1    Nakanishi, N.2    Kitahara, Y.3    Sasaki, Y.4    Murakami, T.5    Nagat, J.6
  • 13
    • 0001261457 scopus 로고    scopus 로고
    • I-cell disease and pseudo-Hurter polydystrophy: Disorders of lysosomal enzyme phosphorylation and localization. Metabolic and molecular basis of inherited disease
    • McGraw-Hill
    • Kornfeld S, Sly WS (2001) I-cell disease and pseudo-Hurter polydystrophy: disorders of lysosomal enzyme phosphorylation and localization. Metabolic and molecular basis of inherited disease. McGraw-Hill, pp 3469-3480
    • (2001) , pp. 3469-3480
    • Kornfeld, S.1    Sly, W.S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.