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Volumn 353, Issue 1-2, 2005, Pages 201-203

Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLUCOSIDASE;

EID: 13444267466     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cccn.2004.10.019     Document Type: Article
Times cited : (104)

References (14)
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    • Fabry's disease: Alpha-galactosidase deficiency
    • J.A. Kint Fabry's disease: alpha-galactosidase deficiency Science 167 1970 1268 1269
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    • Kint, J.A.1
  • 2
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    • α-Galactosidase a deficiency: Fabry disease
    • C.R. Scriver A.L. Beaudet W.S. Sly D. Valle 8th ed. McGraw-Hill New York
    • R.J. Desnick, Y.A. Ioannou, and M.E. Eng α-Galactosidase a deficiency: Fabry disease C.R. Scriver A.L. Beaudet W.S. Sly D. Valle 8th ed. The metabolic and molecular bases of inherited disease vol. 3 2001 McGraw-Hill New York 3733 3774
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , vol.3 , pp. 3733-3774
    • Desnick, R.J.1    Ioannou, Y.A.2    Eng, M.E.3
  • 5
    • 0035811624 scopus 로고    scopus 로고
    • Safety and efficacy of recombinant human α-galactosidase a replacement therapy in Fabry's disease
    • C.M. Eng, N. Guffon, W.R. Wilcox, D.P. Germain, P. Lee, and S. Waldek Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease N. Engl. J. Med. 345 2001 9 16
    • (2001) N. Engl. J. Med. , vol.345 , pp. 9-16
    • Eng, C.M.1    Guffon, N.2    Wilcox, W.R.3    Germain, D.P.4    Lee, P.5    Waldek, S.6
  • 6
    • 12444319931 scopus 로고    scopus 로고
    • Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype
    • S. Nakao, C. Kodama, T. Takenaka, A. Tanaka, Y. Yasumoto, and A. Yoshida Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype Kidney Int. 64 2003 801 807
    • (2003) Kidney Int. , vol.64 , pp. 801-807
    • Nakao, S.1    Kodama, C.2    Takenaka, T.3    Tanaka, A.4    Yasumoto, Y.5    Yoshida, A.6
  • 9
    • 0037177166 scopus 로고    scopus 로고
    • Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy
    • B. Sachdev, T. Takenaka, H. Teraguchi, C. Tei, P. Lee, and W.J. McKenna Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy Circulation 105 2002 1407 1411
    • (2002) Circulation , vol.105 , pp. 1407-1411
    • Sachdev, B.1    Takenaka, T.2    Teraguchi, H.3    Tei, C.4    Lee, P.5    McKenna, W.J.6
  • 10
    • 0029023150 scopus 로고
    • An atypical variant of Fabry's disease in men with left ventricular hypertrophy
    • S. Nakao, T. Takenaka, M. Maeda, C. Kodama, A. Tanaka, and M. Tahara An atypical variant of Fabry's disease in men with left ventricular hypertrophy N. Engl. J. Med. 333 1995 288 293
    • (1995) N. Engl. J. Med. , vol.333 , pp. 288-293
    • Nakao, S.1    Takenaka, T.2    Maeda, M.3    Kodama, C.4    Tanaka, A.5    Tahara, M.6
  • 11
    • 0034970245 scopus 로고    scopus 로고
    • Fabry disease: Enzymatic diagnosis in dried blood spots on filter paper
    • N.A. Chamoles, M. Blanco, and D. Gaggioli Fabry disease: enzymatic diagnosis in dried blood spots on filter paper Clin. Chim. Acta 308 2001 195 196
    • (2001) Clin. Chim. Acta , vol.308 , pp. 195-196
    • Chamoles, N.A.1    Blanco, M.2    Gaggioli, D.3
  • 12
    • 0038820858 scopus 로고    scopus 로고
    • Screening for Fabry disease in end-stage nephropaties
    • M. Spada, and S. Pagliardini Screening for Fabry disease in end-stage nephropaties J. Inherit. Metab. Dis. 25 Suppl. I 2002 113 [Ref Type: Abstract]
    • (2002) J. Inherit. Metab. Dis. , vol.25 , Issue.SUPPL. I , pp. 113
    • Spada, M.1    Pagliardini, S.2
  • 14
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    • Fabry's disease: Enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes
    • R.J. Desnick, K.Y. Allen, S.J. Desnick, M.K. Raman, R.W. Bernlohr, and W. Krivit Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes J. Lab. Clin. Med. 81 1973 157 171
    • (1973) J. Lab. Clin. Med. , vol.81 , pp. 157-171
    • Desnick, R.J.1    Allen, K.Y.2    Desnick, S.J.3    Raman, M.K.4    Bernlohr, R.W.5    Krivit, W.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.