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Volumn 18, Issue 4, 2006, Pages 340-343

Diagnosis of Anderson-Fabry's disease in over seventy-year-old women: Description of two cases

Author keywords

Anderson Fabry's disease; Cardiomyopathy; Geriatric age; Leukoencephalopathy

Indexed keywords

ALPHA GALACTOSIDASE; AMIODARONE; ANTICOAGULANT AGENT; ANTIHYPERTENSIVE AGENT; GLYCOSPHINGOLIPID; PROPAFENONE;

EID: 33751114940     PISSN: 15940667     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03324669     Document Type: Article
Times cited : (4)

References (10)
  • 2
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    • In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: Mc Graw-Hill
    • Desnick RJ, Ioavannou YA. Alpha-galactosidase A deficiency: Fabry disease. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular basis of inherited disease. New York: Mc Graw-Hill, 1995: 2741-84.
    • (1995) The Metabolic and Molecular Basis of Inherited Disease , pp. 2741-2784
    • Desnick, R.J.1    Ioavannou, Y.A.2
  • 3
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    • Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females
    • Mac Dermot 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: 769-75.
    • (2001) J Med Genet , vol.38 , pp. 769-775
    • Mac Dermot, K.D.1    Holmes, A.2    Miners, A.H.3
  • 6
    • 4544344055 scopus 로고    scopus 로고
    • Prevalence of Fabry disease in female patients with late-onset hypertrophyic cardiomyopathy
    • Chimenti C, Pieroni M, Morgante E, et al. Prevalence of Fabry disease in female patients with late-onset hypertrophyic cardiomyopathy. Circulation 2004; 110: 1047-53.
    • (2004) Circulation , vol.110 , pp. 1047-1053
    • Chimenti, C.1    Pieroni, M.2    Morgante, E.3
  • 7
    • 0035811624 scopus 로고    scopus 로고
    • Safety and Efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease
    • International Collaborative Fabry Disease Study group
    • Eng CM, Guffon N, Wilcox WR, et al. International Collaborative Fabry Disease Study group. Safety and Efficacy of recombinant human alpha-galactosidase A replacement therapy 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
  • 8
    • 0035816007 scopus 로고    scopus 로고
    • Enzyme replacement therapy in Fabry disease: A randomized controlled trial
    • Schiffmann R, Kopp JB, Austin HA, et al. 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, H.A.3
  • 9
    • 4344713083 scopus 로고    scopus 로고
    • Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease
    • Spinelli L, Pisani A, Sabbatini M, et al. Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease. Clin Gent 2004; 66: 158-65.
    • (2004) Clin Gent , vol.66 , pp. 158-165
    • Spinelli, L.1    Pisani, A.2    Sabbatini, M.3
  • 10
    • 0035228079 scopus 로고    scopus 로고
    • X-chromosome inactivaction: Counting, choice and initiation
    • Avner P, Heard E. X-chromosome inactivaction: counting, choice and initiation. Nature Rev Genet 2001; 2: 59-67.
    • (2001) Nature Rev Genet , vol.2 , pp. 59-67
    • Avner, P.1    Heard, E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.