메뉴 건너뛰기




Volumn 30, Issue 9, 2008, Pages 825-830

Fabry disease in hemodialysis patients in Southern Brazil: Prevalence study and clinical report

Author keywords

gal A activity; End stage renal disease; Fabry disease; Hemodialysis; Inherited nephropathy; Lysosomal storage disorder

Indexed keywords

ALPHA GALACTOSIDASE;

EID: 54249123119     PISSN: 0886022X     EISSN: 15256049     Source Type: Journal    
DOI: 10.1080/08860220802353777     Document Type: Article
Times cited : (31)

References (23)
  • 1
    • 0000889058 scopus 로고    scopus 로고
    • a-Galactosidase a deficiency: Fabry disease
    • Scriver CR, Sly WS, Beaudet AL, Valle D, eds, 8th ed. New York: McGraw-Hill;
    • Desnick R, Ioannou Y, Eng C. a-Galactosidase a deficiency: Fabry disease. In: Scriver CR, Sly WS, Beaudet AL, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001:3733-3734.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3733-3734
    • Desnick, R.1    Ioannou, Y.2    Eng, C.3
  • 2
    • 0037177166 scopus 로고    scopus 로고
    • Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy
    • Sachdev B, Takenaka T, Teraguchi T, et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation. 2002;105:1407-1411.
    • (2002) Circulation , vol.105 , pp. 1407-1411
    • Sachdev, B.1    Takenaka, T.2    Teraguchi, T.3
  • 3
    • 27844440793 scopus 로고    scopus 로고
    • Prevalence of Fabry disease in patients with cryptogenic stroke: A prospective study
    • Rolfs A, Böttcher T, Zschiesche M, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: A prospective study. Lancet. 2005;366:1794-1796.
    • (2005) Lancet , vol.366 , pp. 1794-1796
    • Rolfs, A.1    Böttcher, T.2    Zschiesche, M.3
  • 4
    • 15444367892 scopus 로고    scopus 로고
    • Fabry disease: Diagnosis and management, with emphasis on the renal manifestations
    • Warnock D. Fabry disease: Diagnosis and management, with emphasis on the renal manifestations. Cur Opin Nephrol Hypertens. 2005;14:87-95.
    • (2005) Cur Opin Nephrol Hypertens , vol.14 , pp. 87-95
    • Warnock, D.1
  • 5
    • 0037452544 scopus 로고    scopus 로고
    • Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy
    • Desnick RJ, et al. Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003;138(4):338-346.
    • (2003) Ann Intern Med , vol.138 , Issue.4 , pp. 338-346
    • Desnick, R.J.1
  • 6
    • 0015209851 scopus 로고
    • Ceramide trihexosidosis (Fabry's disease) without skin lesions
    • Clarke JT, Knaack J, Crawhall JC, Wolfe LS. Ceramide trihexosidosis (Fabry's disease) without skin lesions. N Engl J Med. 1971;284(5):233-235.
    • (1971) N Engl J Med , vol.284 , Issue.5 , pp. 233-235
    • Clarke, J.T.1    Knaack, J.2    Crawhall, J.C.3    Wolfe, L.S.4
  • 7
    • 0029023150 scopus 로고
    • An atypical variant of Fabry disease in men with left ventricular hypertrophy
    • Nakao S, Takenaka T, Maeda M, et al. An atypical variant of Fabry disease in men with left ventricular hypertrophy. N Engl J Med. 1995;333:288-293.
    • (1995) N Engl J Med , vol.333 , pp. 288-293
    • Nakao, S.1    Takenaka, T.2    Maeda, M.3
  • 8
    • 2342524106 scopus 로고    scopus 로고
    • Fabry disease in childhood
    • Desnick RJ, Brady RO. Fabry disease in childhood. J Pediatr, 2004;144(5 Suppl.): S20-S26.
    • (2004) J Pediatr , vol.144 , Issue.5 SUPPL.
    • Desnick, R.J.1    Brady, R.O.2
  • 10
    • 12444319931 scopus 로고    scopus 로고
    • Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype
    • Nakao S, Kodama C, Takenaka T, et al. Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int. 2003;64(3):801-807.
    • (2003) Kidney Int , vol.64 , Issue.3 , pp. 801-807
    • Nakao, S.1    Kodama, C.2    Takenaka, T.3
  • 11
    • 0041352960 scopus 로고    scopus 로고
    • Alpha-galactosidase A deficiency in Dutch patients on dialysis: A critical appraisal of screening for Fabry disease
    • Linthorst GE, Hollak CE, Korevaar JC, et al. Alpha-galactosidase A deficiency in Dutch patients on dialysis: A critical appraisal of screening for Fabry disease. Nephrol Dial Transplant. 2003;18:1581-1584.
    • (2003) Nephrol Dial Transplant , vol.18 , pp. 1581-1584
    • Linthorst, G.E.1    Hollak, C.E.2    Korevaar, J.C.3
  • 12
    • 0033585476 scopus 로고    scopus 로고
    • Prevalence of lysosomal storage disorders
    • Meikle PJ, Hopwood JJ, Clague AE, et al. Prevalence of lysosomal storage disorders. JAMA. 1999;281(3):249-254.
    • (1999) JAMA , vol.281 , Issue.3 , pp. 249-254
    • Meikle, P.J.1    Hopwood, J.J.2    Clague, A.E.3
  • 13
    • 11144355110 scopus 로고    scopus 로고
    • Results of a nationwide screening for Anderson-Fabry disease among dialysis patients
    • Kotanko P, Kramar R, Devrnja D, et al. Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol. 2004;15:1323-1329.
    • (2004) J Am Soc Nephrol , vol.15 , pp. 1323-1329
    • Kotanko, P.1    Kramar, R.2    Devrnja, D.3
  • 14
    • 0036145366 scopus 로고    scopus 로고
    • Patients with Fabry disease on dialysis in the United States
    • Thadhani R, Wolf M, West ML, et al. Patients with Fabry disease on dialysis in the United States. Kidney Int. 2002;61(1):249-255.
    • (2002) Kidney Int , vol.61 , Issue.1 , pp. 249-255
    • Thadhani, R.1    Wolf, M.2    West, M.L.3
  • 15
    • 54249152139 scopus 로고    scopus 로고
    • Nunes ACF, Delgado V, Porsch DB, et al. Fabry disease and hemodialysis: Determining a procedure for blood collecting on a Brazilian screening. Book of Abstracts. Rio de Janeiro, Brazil: World Congress of Nephrology; 2007: 279.
    • Nunes ACF, Delgado V, Porsch DB, et al. Fabry disease and hemodialysis: Determining a procedure for blood collecting on a Brazilian screening. Book of Abstracts. Rio de Janeiro, Brazil: World Congress of Nephrology; 2007: 279.
  • 16
    • 0034970245 scopus 로고    scopus 로고
    • Fabry disease: Enzymatic diagnosis in dried blood spots on filter paper
    • Chamoles NA, Blanco M, Gaggioli D. Fabry disease: enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta. 2001;308(1-2):195-196.
    • (2001) Clin Chim Acta , vol.308 , Issue.1-2 , pp. 195-196
    • Chamoles, N.A.1    Blanco, M.2    Gaggioli, D.3
  • 17
    • 0025360465 scopus 로고
    • The neurological complications of Anderson-Fabry disease (alpha-Galactosidase A deficiency): Investigation of symptomatic and presymptomatic patients
    • Morgan SH, Rudge P, Smith SJ, et al. The neurological complications of Anderson-Fabry disease (alpha-Galactosidase A deficiency): Investigation of symptomatic and presymptomatic patients. Q J Med. 1990;75:491-507.
    • (1990) Q J Med , vol.75 , pp. 491-507
    • Morgan, S.H.1    Rudge, P.2    Smith, S.J.3
  • 18
    • 0041930936 scopus 로고    scopus 로고
    • How to improve the early diagnosis of Fabry disease?
    • Grünfeld J-P. How to improve the early diagnosis of Fabry disease? Kidney Int. 2003;64:1136-1137.
    • (2003) Kidney Int , vol.64 , pp. 1136-1137
    • Grünfeld, J.-P.1
  • 19
    • 54249137033 scopus 로고    scopus 로고
    • Biagini G, Pecoits RRPF, and Weber HHMW. Prevalence of Fabry disease in patients with chronic renal insufficiency undergoing hemodialysis in the State of Paraná - Brazil. Book of Abstracts. Rio de Janeiro, Brazil: World Congress of Nephrology; 2007: 386.
    • Biagini G, Pecoits RRPF, and Weber HHMW. Prevalence of Fabry disease in patients with chronic renal insufficiency undergoing hemodialysis in the State of Paraná - Brazil. Book of Abstracts. Rio de Janeiro, Brazil: World Congress of Nephrology; 2007: 386.
  • 20
    • 54249087358 scopus 로고    scopus 로고
    • Delgado V, Nunes ACF, Canuto M, et al. Fabry disease epidemiology in Rio de Janeiro State: Partial outcome of screening in patients on dialysis treatment. Book of Abstracts. Rio de Janeiro, Brazil: World Congress of Nephrology; 2007: 280.
    • Delgado V, Nunes ACF, Canuto M, et al. Fabry disease epidemiology in Rio de Janeiro State: Partial outcome of screening in patients on dialysis treatment. Book of Abstracts. Rio de Janeiro, Brazil: World Congress of Nephrology; 2007: 280.
  • 21
    • 54249096276 scopus 로고    scopus 로고
    • Tumialán C, Carvalho C, Chavez R., et al. Prevalence in Peru of Fabry disease among males with chronic renal insufficiency. Book of Abstracts. San Jose, Costa Rica: X Latin American Symposium in Lysosomal Storage Disease; 2005: 191.
    • Tumialán C, Carvalho C, Chavez R., et al. Prevalence in Peru of Fabry disease among males with chronic renal insufficiency. Book of Abstracts. San Jose, Costa Rica: X Latin American Symposium in Lysosomal Storage Disease; 2005: 191.
  • 22
    • 54249115688 scopus 로고    scopus 로고
    • Martínez JA, Ardila ME, Gamarra G, at al. Prevalence of Fabry disease in Colombia - preliminary report. Book of Abstracts. San Jose, Costa Rica: X Latin American Symposium in Lysosomal Storage Disease; 2005: 237.
    • Martínez JA, Ardila ME, Gamarra G, at al. Prevalence of Fabry disease in Colombia - preliminary report. Book of Abstracts. San Jose, Costa Rica: X Latin American Symposium in Lysosomal Storage Disease; 2005: 237.
  • 23
    • 26244468125 scopus 로고    scopus 로고
    • Significance of screening for Fabry disease among male dialysis patients
    • Ichinose M, Nakayama M, Ohashi T, et al. Significance of screening for Fabry disease among male dialysis patients. Clin Exp Nephrol. 2005;9:228-232.
    • (2005) Clin Exp Nephrol , vol.9 , pp. 228-232
    • Ichinose, M.1    Nakayama, M.2    Ohashi, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.