메뉴 건너뛰기




Volumn 24, Issue 9, 2009, Pages 1765-1770

Vitamin A responsive night blindness in Dent's disease

Author keywords

CLCN5; Dent's disease; Hypercalciuria; Hypophosphataemi crickets; Night blindness; Nyctalopia

Indexed keywords

ALBUMIN; ALKALINE PHOSPHATASE; ALPHA 1 MICROGLOBULIN; BETA 2 MICROGLOBULIN; CHLORIDE CHANNEL; CITRATE POTASSIUM; IMMUNOGLOBULIN G; PARATHYROID HORMONE; PHOSPHATE; RENAL CHLORIDE CHANNEL 5; RETINOL; TRANSFERRIN; UNCLASSIFIED DRUG;

EID: 68449101080     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-009-1198-6     Document Type: Article
Times cited : (22)

References (20)
  • 1
    • 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
  • 2
    • 0028038212 scopus 로고
    • Dent's disease: A familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance
    • Wrong OM, Norden AG, Feest TG (1994) Dent's disease: A familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance. QJM 87:473-493
    • (1994) QJM , vol.87 , pp. 473-493
    • Wrong, O.M.1    Norden, A.G.2    Feest, T.G.3
  • 3
    • 0031829461 scopus 로고    scopus 로고
    • The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis
    • Thakker RV (1998) The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis. Curr Opin Nephrol Hypertens 7:385-388
    • (1998) Curr Opin Nephrol Hypertens , vol.7 , pp. 385-388
    • Thakker, R.V.1
  • 5
    • 0027829385 scopus 로고
    • Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets
    • Bolino A, Devoto M, Enia G, Zoccali C, Weissenbach J, Romeo G (1993) Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets. Eur J Hum Genet 1:269-279
    • (1993) Eur J Hum Genet , vol.1 , pp. 269-279
    • Bolino, A.1    Devoto, M.2    Enia, G.3    Zoccali, C.4    Weissenbach, J.5    Romeo, G.6
  • 9
    • 0028788756 scopus 로고
    • Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis)
    • Fisher SE, van Bakel I, Lloyd SE, Pearce SH, Thakker RV, Craig IW (1995) Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis). Genomics 29:598-606
    • (1995) Genomics , vol.29 , pp. 598-606
    • Fisher, S.E.1    van Bakel, I.2    Lloyd, S.E.3    Pearce, S.H.4    Thakker, R.V.5    Craig, I.W.6
  • 16
    • 32744475791 scopus 로고    scopus 로고
    • (updated 6 December 2007; cited 10 February 2009)
    • WHO global database on vitamin A deficiency (2007) http://who.int/vmnis/ vitamina/data/database/countries/ind_vita.pdf (updated 6 December 2007; cited 10 February 2009)
    • (2007) WHO Global Database on Vitamin a Deficiency
  • 19
    • 0032953770 scopus 로고    scopus 로고
    • Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease
    • Devuyst O, Christie PT, Courtoy PJ, Beauwens R, Thakker RV (1999) Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease. Hum Mol Genet 8:247-257
    • (1999) Hum Mol Genet , vol.8 , pp. 247-257
    • Devuyst, O.1    Christie, P.T.2    Courtoy, P.J.3    Beauwens, R.4    Thakker, R.V.5
  • 20
    • 0037402916 scopus 로고    scopus 로고
    • Evaluation of the Dade Behring Dimension RxL: Integrated chemistry system-pediatric reference ranges
    • Ghoshal AK, Soldin SJ (2003) Evaluation of the Dade Behring Dimension RxL: Integrated chemistry system-pediatric reference ranges. Clin Chim Acta 331:135-146
    • (2003) Clin Chim Acta , vol.331 , pp. 135-146
    • Ghoshal, A.K.1    Soldin, S.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.