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Volumn 29, Issue 3, 2008, Pages 447-451

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in 2 sisters

Author keywords

[No Author keywords available]

Indexed keywords

ALLOPURINOL; ANTICONVULSIVE AGENT; CALCIUM; CALCIUM CARBONATE; CREATININE; MAGNESIUM; MAGNESIUM SALT; THIAZIDE DIURETIC AGENT; VITAMIN D;

EID: 47549118517     PISSN: 03795284     EISSN: 16583175     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (3)

References (15)
  • 2
    • 18244431922 scopus 로고    scopus 로고
    • Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene
    • Weber S, Hoffmann K, Jeck N, Saar K, Boeswald M, Kuwertz-Broeking E, et al. Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene. Eur J Human Genet 2000; 8: 414-422.
    • (2000) Eur J Human Genet , vol.8 , pp. 414-422
    • Weber, S.1    Hoffmann, K.2    Jeck, N.3    Saar, K.4    Boeswald, M.5    Kuwertz-Broeking, E.6
  • 3
    • 0033516683 scopus 로고    scopus 로고
    • Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption
    • Simon DB, Lu Y, Choate KA, Velazquez H, Al-Sabban E, Praga M, et al. Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. Science 1999; 285: 103-106.
    • (1999) Science , vol.285 , pp. 103-106
    • Simon, D.B.1    Lu, Y.2    Choate, K.A.3    Velazquez, H.4    Al-Sabban, E.5    Praga, M.6
  • 4
    • 0034863148 scopus 로고    scopus 로고
    • Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
    • Weber S, Schneider L, Peters M, Misselwitz J, Rönnefarth G, Böswald M, et al. Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol 2001; 12: 1872-1881.
    • (2001) J Am Soc Nephrol , vol.12 , pp. 1872-1881
    • Weber, S.1    Schneider, L.2    Peters, M.3    Misselwitz, J.4    Rönnefarth, G.5    Böswald, M.6
  • 5
    • 14944358179 scopus 로고    scopus 로고
    • Clinical inquiries. What are the causes of hypomagnesemia?
    • Mouw DR, Latessa RA, Hickner J. Clinical inquiries. What are the causes of hypomagnesemia? J Farm Pract 2005; 54: 174-176.
    • (2005) J Farm Pract , vol.54 , pp. 174-176
    • Mouw, D.R.1    Latessa, R.A.2    Hickner, J.3
  • 6
    • 0028220576 scopus 로고
    • Renal magnesium handling and its hormonal control
    • de Rouffignac C, Quamme G. Renal magnesium handling and its hormonal control. Physiol Rev 1994; 74: 305-322.
    • (1994) Physiol Rev , vol.74 , pp. 305-322
    • de Rouffignac, C.1    Quamme, G.2
  • 7
    • 0015413157 scopus 로고
    • Decreased bicarbonate threshold and renal magnesium wasting in a sibship with distal renal tubular acidosis. (Evaluation of the pathophysiological role of parathyroid hormone)
    • Michelis MF, Drash AL, Linarelli LG, De Rubertis FR, Davis BB. Decreased bicarbonate threshold and renal magnesium wasting in a sibship with distal renal tubular acidosis. (Evaluation of the pathophysiological role of parathyroid hormone). Metabolism 1972; 21: 905-920.
    • (1972) Metabolism , vol.21 , pp. 905-920
    • Michelis, M.F.1    Drash, A.L.2    Linarelli, L.G.3    De Rubertis, F.R.4    Davis, B.B.5
  • 8
    • 0033029532 scopus 로고    scopus 로고
    • Hypomagnesemia
    • Agus ZS. Hypomagnesemia. J Am Soc Nephrol 1999; 10: 1616-1622.
    • (1999) J Am Soc Nephrol , vol.10 , pp. 1616-1622
    • Agus, Z.S.1
  • 9
    • 21344464699 scopus 로고    scopus 로고
    • Hypomagnesemia with hypercalciuria and nephrocalcinosis: Case report and a family study
    • Tasic V, Dervisov D, Koceva S, Weber S, Konrad M. Hypomagnesemia with hypercalciuria and nephrocalcinosis: Case report and a family study. Pediatr Nephrol 2005; 20: 1003-1006.
    • (2005) Pediatr Nephrol , vol.20 , pp. 1003-1006
    • Tasic, V.1    Dervisov, D.2    Koceva, S.3    Weber, S.4    Konrad, M.5
  • 11
    • 0037222716 scopus 로고    scopus 로고
    • Recent advances in molecular genetics of hereditary magnesium-losing disorders
    • Konrad M, Weber S. Recent advances in molecular genetics of hereditary magnesium-losing disorders. J Am Soc Nephrol 2003; 14: 249-260.
    • (2003) J Am Soc Nephrol , vol.14 , pp. 249-260
    • Konrad, M.1    Weber, S.2
  • 13
    • 0038498071 scopus 로고    scopus 로고
    • Familial hypomagnesemia with hypercalciuria and nephrocalcinosis
    • Kari JA, Farouq M, Alshaya HO. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Pediatr Nephrol 2003; 18: 506-510.
    • (2003) Pediatr Nephrol , vol.18 , pp. 506-510
    • Kari, J.A.1    Farouq, M.2    Alshaya, H.O.3
  • 14
    • 0348161392 scopus 로고    scopus 로고
    • Two heterozygous mutations of CLDN16 in a Japanese patients with FHHNC
    • Tajima T, Nakae J, Fujieda K. Two heterozygous mutations of CLDN16 in a Japanese patients with FHHNC. Pediatr Nephrol 2003; 18: 1280-1282.
    • (2003) Pediatr Nephrol , vol.18 , pp. 1280-1282
    • Tajima, T.1    Nakae, J.2    Fujieda, K.3
  • 15
    • 0036956994 scopus 로고    scopus 로고
    • Follow-up of five patients with FHHNC due to mutations in the Paracellin-1 gene
    • Wolf MT, Dötsch J, Konrad M, Böswald M, Rascher W. Follow-up of five patients with FHHNC due to mutations in the Paracellin-1 gene. Pediatr Nephrol 2002; 17: 602-608.
    • (2002) Pediatr Nephrol , vol.17 , pp. 602-608
    • Wolf, M.T.1    Dötsch, J.2    Konrad, M.3    Böswald, M.4    Rascher, W.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.