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Volumn 60, Issue 1, 2006, Pages 55-58

Anderson-Fabry disease;Anderson-Fabrijeva bolest

Author keywords

galactosidase; Agalsidase; Anderson Fabry disease; Dialysis

Indexed keywords

FABRY DISEASE; GENETICS; HUMAN; REVIEW;

EID: 33747093076     PISSN: 13300164     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (8)

References (22)
  • 1
    • 0014216741 scopus 로고
    • Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency
    • Brady RO, Gal AE, Bradley RM i sur. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med 1967; 276: 1163.
    • (1967) N Engl J Med , vol.276 , pp. 1163
    • Brady, R.O.1    Gal, A.E.2    Bradley, R.M.3
  • 2
    • 0028269904 scopus 로고
    • Molecular basis of Fabry disease: Mutations and polymorphisms in the human alpha-galactosidase A gene
    • Eng CM, Desnick RJ. Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. Hum Mutat 1994; 3: 103-11.
    • (1994) Hum Mutat , vol.3 , pp. 103-111
    • Eng, C.M.1    Desnick, R.J.2
  • 3
    • 0030926514 scopus 로고    scopus 로고
    • Fabry's disease: Thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes
    • Eng CM, Ashley GA, Burgert TS i sur. Fabry's disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. Mol Med 1997; 3: 174-82.
    • (1997) Mol Med , vol.3 , pp. 174-182
    • Eng, C.M.1    Ashley, G.A.2    Burgert, T.S.3
  • 4
    • 0033276655 scopus 로고    scopus 로고
    • Twenty novel mutations in the alpha-galactosidase A gene causing Fabry's disease
    • Topaloglu AK, Ashley GA, Tong B i sur. Twenty novel mutations in the alpha-galactosidase A gene causing Fabry's disease. Mol Med 1999; 5: 806-11.
    • (1999) Mol Med , vol.5 , pp. 806-811
    • Topaloglu, A.K.1    Ashley, G.A.2    Tong, B.3
  • 5
    • 0037452544 scopus 로고    scopus 로고
    • Fabry's disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy
    • Desnick RJ, Brady R, Barranger J, Collins AJ. Fabry's disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 2003; 138: 338-46.
    • (2003) Ann Intern Med , vol.138 , pp. 338-346
    • Desnick, R.J.1    Brady, R.2    Barranger, J.3    Collins, A.J.4
  • 6
    • 53949089066 scopus 로고
    • Fabry's disease
    • Alpha-galactosidase A deficiency, Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, ur, New York: McGraw Hill
    • Desnick RJ, Sweeley CC. Fabry's disease: Alpha-galactosidase A deficiency. U: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, ur. Peripheral Neuropathy, vol 2. New York: McGraw Hill, 1983.
    • (1983) Peripheral Neuropathy , vol.2
    • Desnick, R.J.1    Sweeley, C.C.2
  • 7
    • 53949091390 scopus 로고    scopus 로고
    • Desnick RJ, Ioannou YA, Eng CM. α - Galactosidase A Deficiency: Fabry Disease. U: Scriver CR, Beaudet AL, Sly WS, Valle E, ur. The Metabolic & Molecular Bases of Inherited Disease, 8th edition, II. New York, NY: The McGraw-Hill Inc, 2001, 3733-74
    • Desnick RJ, Ioannou YA, Eng CM. α - Galactosidase A Deficiency: Fabry Disease. U: Scriver CR, Beaudet AL, Sly WS, Valle E, ur. The Metabolic & Molecular Bases of Inherited Disease, 8th edition, volume II. New York, NY: The McGraw-Hill Inc, 2001, 3733-74
  • 8
    • 0021158846 scopus 로고
    • Fabry's disease: An ultrastructural study of muscle and peripheral nerve
    • Vital A, Vital C, Maleville J. Fabry's disease: an ultrastructural study of muscle and peripheral nerve. Clin Neuropathol 1984; 3: 168-72.
    • (1984) Clin Neuropathol , vol.3 , pp. 168-172
    • Vital, A.1    Vital, C.2    Maleville, J.3
  • 9
    • 0016167238 scopus 로고
    • Loss of small peripheral sensory neurons in Fabry's disease. Histologic and morphometric evaluation of cutaneous nerves, spinal ganglia, and posterior columns
    • Onishi A, Dyck PJ. Loss of small peripheral sensory neurons in Fabry's disease. Histologic and morphometric evaluation of cutaneous nerves, spinal ganglia, and posterior columns. Arch Neurol 1974; 31: 120-7.
    • (1974) Arch Neurol , vol.31 , pp. 120-127
    • Onishi, A.1    Dyck, P.J.2
  • 10
    • 0032944086 scopus 로고    scopus 로고
    • Quantitative analysis of epidermal innervation in Fabry's disease
    • Scott Lj, Griffin JW, Luciano C i sur. Quantitative analysis of epidermal innervation in Fabry's disease. Neurology 1999; 52: 1249-54.
    • (1999) Neurology , vol.52 , pp. 1249-1254
    • Scott, L.1    Griffin, J.W.2    Luciano, C.3
  • 11
    • 2342524106 scopus 로고    scopus 로고
    • Fabry disease in childhood
    • Desnick RJ, Brady RO. Fabry disease in childhood. J Pediatr 2004; 144: 20-6.
    • (2004) J Pediatr , vol.144 , pp. 20-26
    • Desnick, R.J.1    Brady, R.O.2
  • 12
    • 0020052713 scopus 로고
    • Fabry's disease, impaired autonomic function
    • Cable WJ, Kolodny EH, Adams RD. Fabry's disease, impaired autonomic function. Neurology 1982; 32: 498-502.
    • (1982) Neurology , vol.32 , pp. 498-502
    • Cable, W.J.1    Kolodny, E.H.2    Adams, R.D.3
  • 14
    • 0026099642 scopus 로고
    • An atypical variant of Fabry's disease with manifestations confined to the myocardium
    • von Scheidt W, Eng CM, Fitzmaurice TF i sur. An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med 1991; 324: 395-9.
    • (1991) N Engl J Med , vol.324 , pp. 395-399
    • von Scheidt, W.1    Eng, C.M.2    Fitzmaurice, T.F.3
  • 15
    • 0016716506 scopus 로고
    • Cardiac manifestations of Fabry's disease. Report of a case with mitral insufficiency and electrocardiographic evidence of myocardial infarction
    • Becker AE, Schoorl R, Balk AG, van der Heide RM. Cardiac manifestations of Fabry's disease. Report of a case with mitral insufficiency and electrocardiographic evidence of myocardial infarction. Am J Cardiol 1975; 36: 829-35.
    • (1975) Am J Cardiol , vol.36 , pp. 829-835
    • Becker, A.E.1    Schoorl, R.2    Balk, A.G.3    van der Heide, R.M.4
  • 16
    • 0018891165 scopus 로고
    • Basilar artery aneurysm and Anderson-Fabry disease
    • Maisey DN, Cosh JA. Basilar artery aneurysm and Anderson-Fabry disease. J Neurol Neurosurg Psychiatry 1980; 43: 85-7.
    • (1980) J Neurol Neurosurg Psychiatry , vol.43 , pp. 85-87
    • Maisey, D.N.1    Cosh, J.A.2
  • 17
    • 0029891216 scopus 로고    scopus 로고
    • Cerebrovascular complications of Fabry's disease
    • Mitsias P, Levine SR. Cerebrovascular complications of Fabry's disease. Ann Neurol 1996; 40: 8-17.
    • (1996) Ann Neurol , vol.40 , pp. 8-17
    • Mitsias, P.1    Levine, S.R.2
  • 18
    • 0031800927 scopus 로고    scopus 로고
    • Quantitative analysis of cerebral vasculopathy in patients with Fabry's disease
    • Crutchfield KE, Patronas Nj, Dambrosia JM i sur. Quantitative analysis of cerebral vasculopathy in patients with Fabry's disease. Neurology 1998; 50: 1746-9.
    • (1998) Neurology , vol.50 , pp. 1746-1749
    • Crutchfield, K.E.1    Patronas, N.2    Dambrosia, J.M.3
  • 19
    • 0015583864 scopus 로고
    • Fabry's disease: Enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes
    • Desnick RJ, Allen Ky, Desnick SJ i sur. Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes. J Lab Clin Med 1973: 81: 157.
    • (1973) J Lab Clin Med , vol.81 , pp. 157
    • Desnick, R.J.1    Allen, K.2    Desnick, S.J.3
  • 21
    • 0030805486 scopus 로고    scopus 로고
    • Fabry's disease: Molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22. 1
    • Caggana M, Ashley GA, Desnick RJ, Eng CM. Fabry's disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22. 1. Am J Med Genet 1997; 71: 329-35.
    • (1997) Am J Med Genet , vol.71 , pp. 329-335
    • Caggana, M.1    Ashley, G.A.2    Desnick, R.J.3    Eng, C.M.4
  • 22
    • 0035816007 scopus 로고    scopus 로고
    • Enzyme replacement in Fabry disease: A randomized controled trial
    • Schiffmann R. Kopp JB, Austin HA III i sur. Enzyme replacement in Fabry disease: A randomized controled 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.