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Volumn 16, Issue 2, 2003, Pages 310-313

Renal involvement in Anderson-Fabry disease

Author keywords

Anderson Fabry disease; Electron microscopy; End stage renal failure; Enzyme replacement therapy; Hereditary nephritis; Lisosomal storage disorders

Indexed keywords

ALPHA GALACTOSIDASE; ANTIOXIDANT; ANTITHROMBOCYTIC AGENT; GLYCOSPHINGOLIPID;

EID: 0041519228     PISSN: 11218428     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper
Times cited : (40)

References (29)
  • 4
    • 0033786533 scopus 로고    scopus 로고
    • Fabry disease: Twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes
    • Ashton-Prolla P, Tong B, Shabbeer J. Fabry disease: Twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. J Med Invest 2000; 48: 227-35.
    • (2000) J Med Invest , vol.48 , pp. 227-235
    • Ashton-Prolla, P.1    Tong, B.2    Shabbeer, J.3
  • 5
    • 0029023150 scopus 로고
    • An atypical variant of Fabry's disease in men with left ventricular hypertrophy
    • Nakao S, Takenaka T, Maeda M, Kodama C. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 1995; 333: 288-93.
    • (1995) N Engl J Med , vol.333 , pp. 288-293
    • Nakao, S.1    Takenaka, T.2    Maeda, M.3    Kodama, C.4
  • 6
    • 0031021851 scopus 로고    scopus 로고
    • Isolated glomerular proteinuria as the only clinical manifestation of Fabry's disease in an adult male
    • Meroni M, Spisni C, Tazzari S, Sessa A. Isolated glomerular proteinuria as the only clinical manifestation of Fabry's disease in an adult male. Nephron Dial Transplant 1997; 12: 221-3.
    • (1997) Nephron Dial Transplant , vol.12 , pp. 221-223
    • Meroni, M.1    Spisni, C.2    Tazzari, S.3    Sessa, A.4
  • 7
    • 0035199439 scopus 로고    scopus 로고
    • "Atypical" clinical variants of Anderson-Fabry disease
    • Sessa A, Meroni M, Battini G, Amato M. "Atypical" clinical variants of Anderson-Fabry disease. Nephron 2001; 89: 469-70.
    • (2001) Nephron , vol.89 , pp. 469-470
    • Sessa, A.1    Meroni, M.2    Battini, G.3    Amato, M.4
  • 8
    • 7144223296 scopus 로고
    • Gene action in the X-chromosome of the mouse. (Mus musculus L.)
    • Lyon MF. Gene action in the X-chromosome of the mouse. (Mus musculus L.). Nature 1961; 190: 372-3.
    • (1961) Nature , vol.190 , pp. 372-373
    • Lyon, M.F.1
  • 11
    • 0019427530 scopus 로고
    • Light- and electron-microscopic histochemistry of Fabry's disease
    • Faraggiana T, Churg J, Grishman E. Light- and electron-microscopic histochemistry of Fabry's disease. Am J Pathol 1981; 103: 247.
    • (1981) Am J Pathol , vol.103 , pp. 247
    • Faraggiana, T.1    Churg, J.2    Grishman, E.3
  • 14
    • 0036191166 scopus 로고    scopus 로고
    • Role of the microvascular endothelium in progressive renal disease
    • Kang DH, Kamellis J, Hugo C, Truong L. Role of the microvascular endothelium in progressive renal disease. J Am Soc Nephrol 2002; 13: 806-16.
    • (2002) J Am Soc Nephrol , vol.13 , pp. 806-816
    • Kang, D.H.1    Kamellis, J.2    Hugo, C.3    Truong, L.4
  • 15
    • 0021856677 scopus 로고
    • Diagnostic value of kidney biopsy in heterozygous Fabry's disease
    • Farge D, Nadler S, Wolfe LS. Diagnostic value of kidney biopsy in heterozygous Fabry's disease. Arch Pathol Lab Med 1985; 109: 85-8.
    • (1985) Arch Pathol Lab Med , vol.109 , pp. 85-88
    • Farge, D.1    Nadler, S.2    Wolfe, L.S.3
  • 16
    • 0025346987 scopus 로고
    • Renal changes in heterozygous Fabry's disease: A family study
    • Chen HC, Tsai JH, Lai YH, Guh JY. Renal changes in heterozygous Fabry's disease: A family study. Am J Kidney Dis 1990; 15: 180-3.
    • (1990) Am J Kidney Dis , vol.15 , pp. 180-183
    • Chen, H.C.1    Tsai, J.H.2    Lai, Y.H.3    Guh, J.Y.4
  • 19
    • 0034766525 scopus 로고    scopus 로고
    • Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males
    • MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001; 38: 750-60.
    • (2001) J Med Genet , vol.38 , pp. 750-760
    • MacDermot, K.D.1    Holmes, A.2    Miners, A.H.3
  • 20
    • 0022006913 scopus 로고
    • Progressive cardiac involvement by Fabry's disease despite successful renal allotransplantation
    • Kramer W, Thormann J, Mueller K, Frenzel H. Progressive cardiac involvement by Fabry's disease despite successful renal allotransplantation. Int J Cardiol 1985; 7: 72-5.
    • (1985) Int J Cardiol , vol.7 , pp. 72-75
    • Kramer, W.1    Thormann, J.2    Mueller, K.3    Frenzel, H.4
  • 22
    • 0025778554 scopus 로고
    • Recurrence of Fabry's disease in a renal allograft eleven years after successful renal transplantation
    • Mosnier JF, Degott C, Bedrossian J. Recurrence of Fabry's disease in a renal allograft eleven years after successful renal transplantation. Transplantation 1991; 51: 759-62.
    • (1991) Transplantation , vol.51 , pp. 759-762
    • Mosnier, J.F.1    Degott, C.2    Bedrossian, J.3
  • 24
    • 0035811624 scopus 로고    scopus 로고
    • Safety and efficacy of recombinant human α-galactosidase A replacement in Fabry's disease
    • Eng CM, Guffon N, Wilcox WR. Safety and efficacy of recombinant human α-galactosidase A replacement in Fabry's disease. N Engl J Med 2001; 345: 9-16.
    • (2001) N Engl J Med , vol.345 , pp. 9-16
    • Eng, C.M.1    Guffon, N.2    Wilcox, W.R.3
  • 25
    • 0036234750 scopus 로고    scopus 로고
    • Advances in the management of Anderson-Fabry disease: Enzyme replacement therapy
    • Pastores GM, Thadhani R. Advances in the management of Anderson-Fabry disease: Enzyme replacement therapy. Expert Opin Biol Ther 2002; 2: 1-9.
    • (2002) Expert Opin Biol Ther , vol.2 , pp. 1-9
    • Pastores, G.M.1    Thadhani, R.2
  • 26
    • 0008944501 scopus 로고    scopus 로고
    • Cerebrovascular hyperdynamicity in Fabry disease with reversal following enzyme replacement therapy
    • (in press)
    • Moore DF, Altarescu A, Ling GSF. Cerebrovascular hyperdynamicity in Fabry disease with reversal following enzyme replacement therapy. Stroke 2002 (in press).
    • (2002) Stroke
    • Moore, D.F.1    Altarescu, A.2    Ling, G.S.F.3
  • 27
    • 0035811674 scopus 로고    scopus 로고
    • Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose infusion therapy
    • Frustaci A, Chimenti C, Ricci R, Natale L. Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose infusion therapy. N Engl J Med 2001; 345: 25-32.
    • (2001) N Engl J Med , vol.345 , pp. 25-32
    • Frustaci, A.1    Chimenti, C.2    Ricci, R.3    Natale, L.4
  • 28
    • 0023212386 scopus 로고
    • Effect of vitamin E and ticlopidine on platelet aggregation in Fabry's disease
    • Sakuraba H, Igarashi T, Shibata T, Suzuki Y. Effect of vitamin E and ticlopidine on platelet aggregation in Fabry's disease. Clin Genet 1987; 31: 349-54.
    • (1987) Clin Genet , vol.31 , pp. 349-354
    • Sakuraba, H.1    Igarashi, T.2    Shibata, T.3    Suzuki, Y.4
  • 29
    • 0035816007 scopus 로고    scopus 로고
    • Enzyme replacement therapy in Fabry disease: A randomized controlled trial
    • Schiffmann R, Kopp JB, Austin HA 3rd. Enzyme replacement therapy in Fabry disease: A randomized controlled trial. JAMA 2001; 285: 2743-9.
    • (2001) JAMA , vol.285 , pp. 2743-2749
    • Schiffmann, R.1    Kopp, J.B.2    Austin III, H.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.