메뉴 건너뛰기




Volumn 29, Issue 3-4, 2005, Pages 203-207

Ultrastructural study of renal involvement in two females with Anderson-Fabry disease

Author keywords

AFD; Females; Renal disease; Storage disorder; Ultrastructural study; X linked

Indexed keywords

ALPHA GALACTOSIDASE; GLYCOSPHINGOLIPID; RESIN;

EID: 22244463241     PISSN: 01913123     EISSN: None     Source Type: Journal    
DOI: 10.1080/01913120590951202     Document Type: Conference Paper
Times cited : (9)

References (17)
  • 1
    • 0000889058 scopus 로고    scopus 로고
    • α-galactosidase a deficiency: Fabry disease
    • Scriver CR, Beaudet AL, Sly WS, Vale D, Kinzler KE, Vogelstein B, eds. New York: McGraw-Hill
    • Desnick RJ, Ioannou YA, Eng CM. α-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Vale D, Kinzler KE, Vogelstein B, eds. The Metabolic and Molecular Bases of Inherited Disease, ed. 8. New York: McGraw-Hill; 2001;3:3733-3774.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease, Ed. 8 , vol.3 , pp. 3733-3774
    • Desnick, R.J.1    Ioannou, Y.A.2    Eng, C.M.3
  • 2
    • 0035537911 scopus 로고    scopus 로고
    • Fabry disease (α-Galactosidase a deficiency): Renal involvement and enzyme replacement therapy
    • Schieppati A, Daina E, Sessa A, Remuzzi G, eds. Contrib Nephrol. Basel: Karger
    • Desnick RJ, Wasserstein MP, Banikazemi M. Fabry disease (α-Galactosidase A deficiency): renal involvement and enzyme replacement therapy. In: Schieppati A, Daina E, Sessa A, Remuzzi G, eds. Rare Kidney Diseases. Contrib Nephrol. Basel: Karger; 2001;136:174-192.
    • (2001) Rare Kidney Diseases , vol.136 , pp. 174-192
    • Desnick, R.J.1    Wasserstein, M.P.2    Banikazemi, M.3
  • 3
    • 1642455933 scopus 로고    scopus 로고
    • Sequelae of storage in Fabry disease-pathology and comparison with other lysosomal storage diseases
    • Elleder M. Sequelae of storage in Fabry disease-pathology and comparison with other lysosomal storage diseases. ACTA Paediatr Suppl. 2003;443:46-53.
    • (2003) ACTA Paediatr Suppl , vol.443 , pp. 46-53
    • Elleder, M.1
  • 4
    • 0035667062 scopus 로고    scopus 로고
    • Anderson-Fabry disease: Clinical manifestations of disease in female heterozygotes
    • Whybra C, Kampmann C, willers I, et al. Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis. 2001;24:715-724.
    • (2001) J Inherit Metab Dis , vol.24 , pp. 715-724
    • Whybra, C.1    Kampmann, C.2    Willers, I.3
  • 5
    • 0034754467 scopus 로고    scopus 로고
    • Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females
    • MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet. 2001;38:769-807.
    • (2001) J Med Genet , vol.38 , pp. 769-807
    • MacDermot, K.D.1    Holmes, A.2    Miners, A.H.3
  • 6
    • 0037452544 scopus 로고    scopus 로고
    • Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy
    • Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003;138:338-346.
    • (2003) Ann Intern Med , vol.138 , pp. 338-346
    • Desnick, R.J.1    Brady, R.2    Barranger, J.3
  • 7
    • 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
  • 8
    • 0036436320 scopus 로고    scopus 로고
    • Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy
    • Thurberg BL, Rennke H, Colvin RB, et al. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int. 2002;62:1933-1946.
    • (2002) Kidney Int , vol.62 , pp. 1933-1946
    • Thurberg, B.L.1    Rennke, H.2    Colvin, R.B.3
  • 9
    • 0036263495 scopus 로고    scopus 로고
    • Renal pathology in Fabry disease
    • Alroy J, Sabnis S, Kopp JB. Renal pathology in Fabry disease. J Am Soc Nephrol. 2002;13(suppl):134-138.
    • (2002) J Am Soc Nephrol , vol.13 , Issue.SUPPL. , pp. 134-138
    • Alroy, J.1    Sabnis, S.2    Kopp, J.B.3
  • 10
    • 0025351696 scopus 로고
    • Glycolipid storage material in Fabry's disease: A study by electron microscopy, freeze-fracture, and digital image analysis
    • Simon M, Frey H, Gruler H, Bultmann B. Glycolipid storage material in Fabry's disease: a study by electron microscopy, freeze-fracture, and digital image analysis. J Struct Biol. 1990;103:40-47.
    • (1990) J Struct Biol , vol.103 , pp. 40-47
    • Simon, M.1    Frey, H.2    Gruler, H.3    Bultmann, B.4
  • 11
    • 0025552640 scopus 로고
    • An atypical ultrastructural pattern in Fabry's disease: A study on its nature and incidence in 7 cases
    • Elleder M, Ledvinova J, Vosmik F, Zeman J, Stejskal D, Lageron A. An atypical ultrastructural pattern in Fabry's disease: a study on its nature and incidence in 7 cases. Ultrastruct Pathol. 1990;14:467-474.
    • (1990) Ultrastruct Pathol , vol.14 , pp. 467-474
    • Elleder, M.1    Ledvinova, J.2    Vosmik, F.3    Zeman, J.4    Stejskal, D.5    Lageron, A.6
  • 12
    • 1642520738 scopus 로고    scopus 로고
    • Fabry disease: Kidney involvement and enzyme replacement therapy
    • Siamopoulos KC. Fabry disease: kidney involvement and enzyme replacement therapy. Kidney Int. 2004;65:744-753.
    • (2004) Kidney Int , vol.65 , pp. 744-753
    • Siamopoulos, K.C.1
  • 13
    • 0035157578 scopus 로고    scopus 로고
    • Renal pathological changes in Fabry disease
    • Sessa A, Meroni M, Battini G, et al. Renal pathological changes in Fabry disease. J Inherit Metab Dis. 2001;24(Suppl 2):66-70.
    • (2001) J Inherit Metab Dis , vol.24 , Issue.SUPPL. 2 , pp. 66-70
    • Sessa, A.1    Meroni, M.2    Battini, G.3
  • 14
    • 0035537934 scopus 로고    scopus 로고
    • Heterozygotes with Fabry's disease
    • Schieppati A, Daina E, Sessa A, Remuzzi G, eds. Basel: Karger
    • Grunfeld JP, Lidove O, Barbey F. Heterozygotes with Fabry's disease. In: Schieppati A, Daina E, Sessa A, Remuzzi G, eds. Rare Kidney Diseases. Contrib Nephrol. Basel: Karger; 2001;136:174-210.
    • (2001) Rare Kidney Diseases. Contrib Nephrol , vol.136 , pp. 174-210
    • Grunfeld, J.P.1    Lidove, O.2    Barbey, F.3
  • 15
    • 0028866658 scopus 로고
    • A female heterozygous patient with Fabry's disease with renal accumulation of trihexosylceramide detected with a monoclonal antibody
    • Fukushima M, Tsuchiyama Y, Nakato T, et al. A female heterozygous patient with Fabry's disease with renal accumulation of trihexosylceramide detected with a monoclonal antibody. Am J Kidney Dis. 1995;26:952-955.
    • (1995) Am J Kidney Dis , vol.26 , pp. 952-955
    • Fukushima, M.1    Tsuchiyama, Y.2    Nakato, T.3
  • 16
    • 0033950217 scopus 로고    scopus 로고
    • Profile of endothelial and leukocyte activation in Fabry patients
    • DeGraba T, Azhar S, Dignat-George F, et al. Profile of endothelial and leukocyte activation in Fabry patients. Ann Neurol. 2000;47: 229-233.
    • (2000) Ann Neurol , vol.47 , pp. 229-233
    • DeGraba, T.1    Azhar, S.2    Dignat-George, F.3
  • 17
    • 0029021405 scopus 로고
    • Role of platelets in progressive glomerular diseases
    • Zoja C, Remuzzi G. Role of platelets in progressive glomerular diseases. Pediatr Nephrol. 1995;9:495-502.
    • (1995) Pediatr Nephrol , vol.9 , pp. 495-502
    • Zoja, C.1    Remuzzi, G.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.