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Volumn 162, Issue 11, 1997, Pages 773-776

Fabry's disease presenting as syncope, angiokeratomas, and spoke-like cataracts in a young man: Discussion of the differential diagnosis

Author keywords

[No Author keywords available]

Indexed keywords

FLUDROCORTISONE ACETATE;

EID: 1842364879     PISSN: 00264075     EISSN: None     Source Type: Journal    
DOI: 10.1093/milmed/162.11.773     Document Type: Article
Times cited : (11)

References (39)
  • 1
    • 0019509687 scopus 로고
    • Commission on Classification and Terminology of the International League Against Epilepsy
    • Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia 1981; 22: 489-501.
    • (1981) Epilepsia , vol.22 , pp. 489-501
  • 4
    • 0020615817 scopus 로고
    • The role of sunlight in human cataract formation
    • Zigman S: The role of sunlight in human cataract formation. Sun Ophthalmol 1983; 27: 317.
    • (1983) Sun Ophthalmol , vol.27 , pp. 317
    • Zigman, S.1
  • 5
    • 0022994025 scopus 로고
    • Corticosteroid-induced cataracts
    • Urban RC, Cotlier E: Corticosteroid-induced cataracts. Sun Ophthalmol 1986; 31: 102.
    • (1986) Sun Ophthalmol , vol.31 , pp. 102
    • Urban, R.C.1    Cotlier, E.2
  • 7
    • 0017111316 scopus 로고
    • Histopathology and ultrastructure of busulfan induced cataract
    • Hamming NA, Apple DJ: Histopathology and ultrastructure of busulfan induced cataract. Graefe's Arch Clin Exp Ophthalmol 1976; 200: 139.
    • (1976) Graefe's Arch Clin Exp Ophthalmol , vol.200 , pp. 139
    • Hamming, N.A.1    Apple, D.J.2
  • 8
    • 0242579757 scopus 로고
    • Galactosemia cataract: A review
    • Cordes FC: Galactosemia cataract: a review. Am J Ophthalmol 1960; 50: 1151.
    • (1960) Am J Ophthalmol , vol.50 , pp. 1151
    • Cordes, F.C.1
  • 11
    • 10044283734 scopus 로고
    • Hereditary progressive cochleovestibular atrophies
    • Edited by Vinken PJ, Bruyn GW. Amsterdam, North-Holland
    • Konigsmark BW: Hereditary progressive cochleovestibular atrophies. In Handbook of Clinical Neurology, Vol 22, pp 499-526. Edited by Vinken PJ, Bruyn GW. Amsterdam, North-Holland, 1975.
    • (1975) Handbook of Clinical Neurology , vol.22 , pp. 499-526
    • Konigsmark, B.W.1
  • 13
    • 0038968339 scopus 로고    scopus 로고
    • Montvale, NJ, Medical Economics
    • Physicians' Desk Reference, Ed 50, p 1509. Montvale, NJ, Medical Economics, 1996.
    • (1996) Physicians' Desk Reference, Ed 50 , pp. 1509
  • 14
    • 0014216741 scopus 로고
    • Enzymatic defect in Fabry's disease: Ceramidetrihexosidase deficiency
    • Brady RO, Gal AE, Bradley RM, et al: 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
  • 15
    • 0028269904 scopus 로고
    • Molecular basis of Fabry's disease: Mutations and polymorphisms in the human galactosidase A gene
    • Eng CM, Desnick RJ: Molecular basis of Fabry's disease: mutations and polymorphisms in the human galactosidase A gene. (Review.) Hum Mutat 1994; 3: 103-11.
    • (1994) Hum Mutat , vol.3 , pp. 103-111
    • Eng, C.M.1    Desnick, R.J.2
  • 16
    • 0027318662 scopus 로고
    • Fabry's disease: Detection of gene rearrangements in the human alpha-galactosidase A gene by multiply PCR amplification
    • Kornreich R, Desnick RJ: Fabry's disease: detection of gene rearrangements in the human alpha-galactosidase A gene by multiply PCR amplification. Hum Mutat 1993; 2: 108-11.
    • (1993) Hum Mutat , vol.2 , pp. 108-111
    • Kornreich, R.1    Desnick, R.J.2
  • 17
    • 0003120531 scopus 로고
    • Article title
    • Edited by Dyck P, Thomas PK. Philadelphia, WB Saunders
    • Brady R: Article title. In Peripheral Neuropathy, Ed 3, pp 1169-78. Edited by Dyck P, Thomas PK. Philadelphia, WB Saunders, 1993.
    • (1993) Peripheral Neuropathy, Ed 3 , pp. 1169-1178
    • Brady, R.1
  • 18
    • 0014057355 scopus 로고
    • Angiokeratoma: Clinical pathology study
    • Imperial R, Helwig EB: Angiokeratoma: clinical pathology study. Arch Dermatol 1967; 95: 166.
    • (1967) Arch Dermatol , vol.95 , pp. 166
    • Imperial, R.1    Helwig, E.B.2
  • 19
    • 0018144648 scopus 로고
    • Corneal ultrastructural changes in Fabry's disease
    • Francois J, Hanssens M, Teuchy H: Corneal ultrastructural changes in Fabry's disease. Ophthalmologica 1978; 176: 313.
    • (1978) Ophthalmologica , vol.176 , pp. 313
    • Francois, J.1    Hanssens, M.2    Teuchy, H.3
  • 20
    • 0028363692 scopus 로고
    • Electrophysiologic finding in Fabry's disease with a short PR interval
    • Pochis WT, Litaow JT, King BG, Kenny D: Electrophysiologic finding in Fabry's disease with a short PR interval. Am J Cardiol 1994; 74: 203-4.
    • (1994) Am J Cardiol , vol.74 , pp. 203-204
    • Pochis, W.T.1    Litaow, J.T.2    King, B.G.3    Kenny, D.4
  • 21
    • 0026807050 scopus 로고
    • Fabry's disease with complete atrioventricular blocks: Histologic evidence of involvement of the conduction system
    • Ikari Y, Kuwako K, Yamaguchi T: Fabry's disease with complete atrioventricular blocks: histologic evidence of involvement of the conduction system. Br Heart J 1992; 68: 323-5.
    • (1992) Br Heart J , vol.68 , pp. 323-325
    • Ikari, Y.1    Kuwako, K.2    Yamaguchi, T.3
  • 22
    • 1842334389 scopus 로고
    • Relief of the painful crises of Fabry's disease by diphenylhydantoin
    • Lockman LA, Krivit W, Desnick RJ: Relief of the painful crises of Fabry's disease by diphenylhydantoin. Neurology 1971; 21: 423.
    • (1971) Neurology , vol.21 , pp. 423
    • Lockman, L.A.1    Krivit, W.2    Desnick, R.J.3
  • 23
    • 0024589757 scopus 로고
    • Carbemazepine in Fabry's disease: Effective analgesia with dose dependent exacerbation of autonomic dysfunction
    • Filling-Katz MR, Merrick HF, Fink JK, et al: Carbemazepine in Fabry's disease: effective analgesia with dose dependent exacerbation of autonomic dysfunction. Neurology 1989; 29: 598.
    • (1989) Neurology , vol.29 , pp. 598
    • Filling-Katz, M.R.1    Merrick, H.F.2    Fink, J.K.3
  • 24
    • 0028052980 scopus 로고
    • Stroke in Fabry's disease
    • Grewal RP: Stroke in Fabry's disease. J Neurol 1994; 241(3): 153-6.
    • (1994) J Neurol , vol.241 , Issue.3 , pp. 153-156
    • Grewal, R.P.1
  • 25
    • 0019740165 scopus 로고
    • Diagnostic electron microscopy in Fabry's disease: Use of biopsies from uninvolved skin. Acute and chronic changes involving the microvasculature and uninvolved nerves
    • Dvorak AM, Cable WJL, Osage JE, et al: Diagnostic electron microscopy in Fabry's disease: use of biopsies from uninvolved skin. Acute and chronic changes involving the microvasculature and uninvolved nerves. Pathol Annu 1981; 16: 139.
    • (1981) Pathol Annu , vol.16 , pp. 139
    • Dvorak, A.M.1    Cable, W.J.L.2    Osage, J.E.3
  • 26
    • 0014041805 scopus 로고
    • Clinical and electron microscopic studies of a case of glycolipid lipidosis (Fabry's disease)
    • Rae AI, Lee JC, Hopper J: Clinical and electron microscopic studies of a case of glycolipid lipidosis (Fabry's disease). J Clin Pathol 1967; 20: 21.
    • (1967) J Clin Pathol , vol.20 , pp. 21
    • Rae, A.I.1    Lee, J.C.2    Hopper, J.3
  • 27
    • 0014258906 scopus 로고
    • Cutaneous lesions of Fabry's disease: Glycolipid lipidosis and light and electron microscopic findings
    • Sagebiel RW, Parker F: Cutaneous lesions of Fabry's disease: glycolipid lipidosis and light and electron microscopic findings. J Invest Dermatol 1968; 50: 208.
    • (1968) J Invest Dermatol , vol.50 , pp. 208
    • Sagebiel, R.W.1    Parker, F.2
  • 28
    • 0015915183 scopus 로고
    • Replacement therapy for inherited enzyme deficiency. Use of purified ceramidetrihexosidase in Fabry's disease
    • Brady RO, Tallman FJ, Johnson WG, et al: Replacement therapy for inherited enzyme deficiency. Use of purified ceramidetrihexosidase in Fabry's disease. N Engl J Med 1973; 789: 9.
    • (1973) N Engl J Med , vol.789 , pp. 9
    • Brady, R.O.1    Tallman, F.J.2    Johnson, W.G.3
  • 29
    • 0027294672 scopus 로고
    • Angiokeratomas in Fabry's disease and Fordyce's disease: Successful treatment with a copper vapour laser
    • Lapins J, Emtestam L, Marcusson JA: Angiokeratomas in Fabry's disease and Fordyce's disease: successful treatment with a copper vapour laser. Acta Dermato-Venereol 1993; 73: 133-5.
    • (1993) Acta Dermato-Venereol , vol.73 , pp. 133-135
    • Lapins, J.1    Emtestam, L.2    Marcusson, J.A.3
  • 30
    • 0015386023 scopus 로고
    • Correction of enzymatic deficiencies by renal transplantation: Fabry's disease
    • Desnick RJ, Simmons RL, Allen KY, et al: Correction of enzymatic deficiencies by renal transplantation: Fabry's disease. Surgery 1972; 72: 203.
    • (1972) Surgery , vol.72 , pp. 203
    • Desnick, R.J.1    Simmons, R.L.2    Allen, K.Y.3
  • 31
    • 0028937734 scopus 로고
    • Recurrence of Fabry's disease in a renal allograft 14 years after transplantation
    • Gantenbein M, Bruder E, Burger HR, et al: Recurrence of Fabry's disease in a renal allograft 14 years after transplantation. Nephrol Dial Transplant 1995; 10: 287-9.
    • (1995) Nephrol Dial Transplant , vol.10 , pp. 287-289
    • Gantenbein, M.1    Bruder, E.2    Burger, H.R.3
  • 32
    • 0025778554 scopus 로고
    • Recurrence of Fabry's disease in a renal allograft eleven years after successful renal transplantation
    • Mosnier JF, Degolt C, Bedrussian J, et al: Recurrence of Fabry's disease in a renal allograft eleven years after successful renal transplantation. Transplantation 1991; 51: 759-67.
    • (1991) Transplantation , vol.51 , pp. 759-767
    • Mosnier, J.F.1    Degolt, C.2    Bedrussian, J.3
  • 34
    • 0023333852 scopus 로고
    • Prenatal diagnosis of Fabry's disease by direct analysis of chorionic villi
    • Kleijer WJ, Hussaarts-Odijk LM, Sachs ES, et al: Prenatal diagnosis of Fabry's disease by direct analysis of chorionic villi. Prenatal Diagn 1987; 7: 283.
    • (1987) Prenatal Diagn , vol.7 , pp. 283
    • Kleijer, W.J.1    Hussaarts-Odijk, L.M.2    Sachs, E.S.3
  • 36
    • 0027767546 scopus 로고
    • Incapacitating neuropathy precipitated by taxol
    • Jerian SM, Sarosy GA, Link CJ, et al: Incapacitating neuropathy precipitated by taxol. Gynecol Oncol 1993; 51: 277-80.
    • (1993) Gynecol Oncol , vol.51 , pp. 277-280
    • Jerian, S.M.1    Sarosy, G.A.2    Link, C.J.3
  • 37
    • 0026774094 scopus 로고
    • Treatment of orthostatic hypotension with sleeping in the head-up tilt position, alone and in combination with fludrocortisone
    • Ten Harkel AD, Van Lieshout JJ, Wieling W: Treatment of orthostatic hypotension with sleeping in the head-up tilt position, alone and in combination with fludrocortisone. J Intern Med 1992; 232: 139-45.
    • (1992) J Intern Med , vol.232 , pp. 139-145
    • Ten Harkel, A.D.1    Van Lieshout, J.J.2    Wieling, W.3
  • 38
    • 0028347595 scopus 로고
    • Neurocardiogenic syncope in children with a normal heart
    • Balaji S, Oslizlok PC, et al: Neurocardiogenic syncope in children with a normal heart. J Am Coll Cardiol 1994; 23: 779-85.
    • (1994) J Am Coll Cardiol , vol.23 , pp. 779-785
    • Balaji, S.1    Oslizlok, P.C.2
  • 39
    • 0028236531 scopus 로고
    • Orthostatic hypotension in patients, bed rest subjects and astronauts
    • Lathers CM, Charles JB: Orthostatic hypotension in patients, bed rest subjects and astronauts. (Review.) J Clin Pharmacol 1994; 34: 403-17.
    • (1994) J Clin Pharmacol , vol.34 , pp. 403-417
    • Lathers, C.M.1    Charles, J.B.2


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