메뉴 건너뛰기




Volumn 218, Issue 3, 2004, Pages 207-209

Results of an ophthalmologic screening programme for identification of cases with anderson-fabry disease

Author keywords

Anderson fabry disease; Cornea verticillata; Ophthalmologic screening programme; Tortuositas vasorum

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; EYE MALFORMATION; FABRY DISEASE; FEMALE; HEALTH PROGRAM; HEALTH SURVEY; HUMAN; LABORATORY DIAGNOSIS; MALE; MASS SCREENING; MEDICAL EXAMINATION; QUESTIONNAIRE;

EID: 2342580804     PISSN: 00303755     EISSN: None     Source Type: Journal    
DOI: 10.1159/000076846     Document Type: Article
Times cited : (20)

References (17)
  • 1
    • 0035816007 scopus 로고    scopus 로고
    • Enzyme replacement therapy in Fabry disease: A randomized controlled trial
    • Schiffmann R, Kopp JB, Austin HA 3rd, et al: Enzyme replacement therapy in Fabry disease: A randomized controlled trial. JAMA 2001;285:2743-2749.
    • (2001) JAMA , vol.285 , pp. 2743-2749
    • Schiffmann, R.1    Kopp, J.B.2    Austin III, H.A.3
  • 2
    • 0036266968 scopus 로고    scopus 로고
    • Anderson-Fabry disease: Extrarenal, neurologic manifestations
    • Kolodny EH, Pastores GM: Anderson-Fabry disease: Extrarenal, neurologic manifestations. J Am Soc Nephrol 2002;13(suppl 2):S150-S153.
    • (2002) J Am Soc Nephrol , vol.13 , Issue.2 SUPPL.
    • Kolodny, E.H.1    Pastores, G.M.2
  • 3
    • 0035949059 scopus 로고    scopus 로고
    • Enzyme-replacement therapy for Anderson-Fabry disease
    • Pastores GM, Thadhani R: Enzyme-replacement therapy for Anderson-Fabry disease. Lancet 2001;358:601-603.
    • (2001) Lancet , vol.358 , pp. 601-603
    • Pastores, G.M.1    Thadhani, R.2
  • 4
    • 0034766525 scopus 로고    scopus 로고
    • Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males
    • MacDermot KD, Holmes A, Miners AH: Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001;38:750-760.
    • (2001) J Med Genet , vol.38 , pp. 750-760
    • MacDermot, K.D.1    Holmes, A.2    Miners, A.H.3
  • 5
    • 0034754467 scopus 로고    scopus 로고
    • Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females
    • MacDermot 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;38:769-775.
    • (2001) J Med Genet , vol.38 , pp. 769-775
    • MacDermot, K.D.1    Holmes, A.2    Miners, A.H.3
  • 6
    • 0036266230 scopus 로고    scopus 로고
    • Cardiac involvement in Anderson-Fabry disease
    • Kampmann Ch, Baehner F, Ries M, et al: Cardiac involvement in Anderson-Fabry disease. J Am Soc Nephrol 2002;13(suppl 2):S147-S149.
    • (2002) J Am Soc Nephrol , vol.13 , Issue.2 SUPPL.
    • Kampmann, Ch.1    Baehner, F.2    Ries, M.3
  • 9
    • 0000889058 scopus 로고    scopus 로고
    • α-Galactosidase a deficiency: Fabry disease
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds): New York, McGraw Hill
    • Desnick RJ, Ioannou YA, Eng CM: α-Galactosidase A deficiency: Fabry disease; in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease, ed 8. New York, McGraw Hill, 2001, vol 3, pp 3733-3774.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease, Ed 8 , vol.3 , pp. 3733-3774
    • Desnick, R.J.1    Ioannou, Y.A.2    Eng, C.M.3
  • 10
    • 0035852488 scopus 로고    scopus 로고
    • Anderson-Fabry's disease: Galactosidase deficiency
    • Peters FPJ, Vermeulen A, Kho TL: Anderson-Fabry's disease: Galactosidase deficiency. Lancet 2001;357:138-140.
    • (2001) Lancet , vol.357 , pp. 138-140
    • Peters, F.P.J.1    Vermeulen, A.2    Kho, T.L.3
  • 11
    • 0033855422 scopus 로고    scopus 로고
    • Estimating prevalence in single-gene kidney diseases progressing to renal failure
    • Levy M, Feingold J: Estimating prevalence in single-gene kidney diseases progressing to renal failure. Kidney Int 2000;58:925-943.
    • (2000) Kidney Int , vol.58 , pp. 925-943
    • Levy, M.1    Feingold, J.2
  • 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;281:249-254.
    • (1999) JAMA , vol.281 , pp. 249-254
    • Meikle, P.J.1    Hopwood, J.J.2    Clague, A.E.3
  • 13
    • 0023758733 scopus 로고
    • Anderson-Fabry disease
    • Morgan SH, Crawfurd MA: Anderson-Fabry disease. BMJ 1988;297:872-873.
    • (1988) BMJ , vol.297 , pp. 872-873
    • Morgan, S.H.1    Crawfurd, M.A.2
  • 14
    • 0029023150 scopus 로고
    • An atypical variant of Fabry's disease in men with left ventricular hypertrophy
    • Nakao S, Takenaka T, Maeda M, et al: An atypical variant of Fabry's 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
  • 15
    • 0036929490 scopus 로고    scopus 로고
    • Fabry disease in patients with hypertrophic cardiomyopathy
    • Beer G, Reinecke P, Gabbert HE, et al: Fabry disease in patients with hypertrophic cardiomyopathy. Z Kardiol 2002;91:992-1002.
    • (2002) Z Kardiol , vol.91 , pp. 992-1002
    • Beer, G.1    Reinecke, P.2    Gabbert, H.E.3
  • 16
    • 0018242098 scopus 로고
    • Ophthalmologic aspects of lipid storage diseases
    • Brady RO: Ophthalmologic aspects of lipid storage diseases. Ophthalmology 1978;85:1007-1013.
    • (1978) Ophthalmology , vol.85 , pp. 1007-1013
    • Brady, R.O.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.