메뉴 건너뛰기




Volumn 97, Issue SUPPL. 457, 2008, Pages 41-47

Early therapeutic intervention in females with Fabry disease?

Author keywords

Galactosidase A; Early therapy; Enzyme replacement therapy; Fabry disease; Females; Heterozygotes

Indexed keywords

ALPHA GALACTOSIDASE; GLOBOTRIAOSYLCERAMIDE;

EID: 41049102218     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2008.00649.x     Document Type: Conference Paper
Times cited : (19)

References (54)
  • 1
    • 0014964372 scopus 로고
    • Fabry's disease: α-galactosidase deficiency
    • Kint JA. Fabry's disease: α-galactosidase deficiency. Science 1970 167 : 1268 9.
    • (1970) Science , vol.167 , pp. 1268-9
    • Kint, J.A.1
  • 2
    • 12144287518 scopus 로고    scopus 로고
    • Fabry disease defined: Baseline clinical manifestations of 366 patients in the Fabry Outcome Survey
    • Mehta A, Ricci R, Widmer U, Dehout F, Garcia de Lorenzo A, Kampmann C, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004 34 : 236 42.
    • (2004) Eur J Clin Invest , vol.34 , pp. 236-42
    • Mehta, A.1    Ricci, R.2    Widmer, U.3    Dehout, F.4    Garcia De Lorenzo, A.5    Kampmann, C.6
  • 3
    • 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 60.
    • (2001) J Med Genet , vol.38 , pp. 750-60
    • MacDermot, K.D.1    Holmes, A.2    Miners, A.H.3
  • 4
    • 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 75.
    • (2001) J Med Genet , vol.38 , pp. 769-75
    • MacDermot, K.D.1    Holmes, A.2    Miners, A.H.3
  • 5
    • 0035097499 scopus 로고    scopus 로고
    • A phase 1/2 clinical trial of enzyme replacement in Fabry disease: Pharmacokinetic, substrate clearance, and safety studies
    • Eng CM, Banikazemi M, Gordon RE, Goldman M, Phelps R, Kim L, et al. A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 2001 68 : 711 22.
    • (2001) Am J Hum Genet , vol.68 , pp. 711-22
    • Eng, C.M.1    Banikazemi, M.2    Gordon, R.E.3    Goldman, M.4    Phelps, R.5    Kim, L.6
  • 7
    • 0013155111 scopus 로고    scopus 로고
    • Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease
    • Moore DF, Altarescu G, Herscovitch P, Schiffmann R. Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease. BMC Neurol 2002 2 : 4 13.
    • (2002) BMC Neurol , vol.2 , pp. 4-13
    • Moore, D.F.1    Altarescu, G.2    Herscovitch, P.3    Schiffmann, R.4
  • 9
    • 6944241303 scopus 로고    scopus 로고
    • Effect of enzymereplacement therapy on gastrointestinal symptoms in Fabry disease
    • Hoffmann B, Reinhardt D, Koletzko B. Effect of enzymereplacement therapy on gastrointestinal symptoms in Fabry disease. Eur J Gastroenterol Hepatol 2004 16 : 1067 9.
    • (2004) Eur J Gastroenterol Hepatol , vol.16 , pp. 1067-9
    • Hoffmann, B.1    Reinhardt, D.2    Koletzko, B.3
  • 10
    • 15044357727 scopus 로고    scopus 로고
    • Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: Data from FOS (Fabry Outcome Survey)
    • Hoffmann B, Garcia de Lorenzo A, Mehta A, Beck M, Widmer U, Ricci R. Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey). J Med Genet 2005 42 : 247 52.
    • (2005) J Med Genet , vol.42 , pp. 247-52
    • Hoffmann, B.1    Garcia De Lorenzo, A.2    Mehta, A.3    Beck, M.4    Widmer, U.5    Ricci, R.6
  • 11
  • 13
    • 23044513293 scopus 로고    scopus 로고
    • Gastrointestinal manifestations of Fabry disease: Clinical response to enzyme replacement therapy
    • Banikazemi M, Ullman T, Desnick RJ. Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy. Mol Genet Metab 2005 85 : 255 9.
    • (2005) Mol Genet Metab , vol.85 , pp. 255-9
    • Banikazemi, M.1    Ullman, T.2    Desnick, R.J.3
  • 16
    • 39549116083 scopus 로고    scopus 로고
    • Treatment of Fabry disease: Outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg
    • Vedder AC, Linthorst GE, Houge G, Groener JE, Ormel EE, Bouma BJ, et al. Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. PLoS ONE 2007 2 : e598.
    • (2007) PLoS ONE , vol.2
    • Vedder, A.C.1    Linthorst, G.E.2    Houge, G.3    Groener, J.E.4    Ormel, E.E.5    Bouma, B.J.6
  • 18
  • 22
    • 34447263989 scopus 로고    scopus 로고
    • National Institute for Health and Clinical Excellence. Available from:
    • National Institute for Health and Clinical Excellence. Appraising orphan drugs. Available from : http://www.nice.org.uk/niceMedia/pdf/smt/120705item4. pdf.
    • Appraising Orphan Drugs
  • 23
    • 7144223296 scopus 로고
    • Gene action in the X-chromosome of the mouse Mus musculus L.
    • Lyon MF. Gene action in the X-chromosome of the mouse Mus musculus L. Nature 1961 190 : 372 3.
    • (1961) Nature , vol.190 , pp. 372-3
    • Lyon, M.F.1
  • 24
    • 0036981036 scopus 로고    scopus 로고
    • X-chromosome inactivation and human genetic disease
    • Lyon MF. X-chromosome inactivation and human genetic disease. Acta Paediatr 2002 91 (Suppl 439 107 12.
    • (2002) Acta Paediatr , vol.91 , Issue.439 , pp. 107-12
    • Lyon, M.F.1
  • 25
    • 33646693868 scopus 로고    scopus 로고
    • X-chromosome inactivation: Role in skin disease expression
    • Happle R. X-chromosome inactivation: role in skin disease expression. Acta Paediatr 2006 95 (Suppl 451 16 23.
    • (2006) Acta Paediatr , vol.95 , Issue.451 , pp. 16-23
    • Happle, R.1
  • 26
    • 33646685716 scopus 로고    scopus 로고
    • The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked
    • Dobyns WB. The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked. Acta Paediatr 2006 95 (Suppl 451 11 15.
    • (2006) Acta Paediatr , vol.95 , Issue.451 , pp. 11-15
    • Dobyns, W.B.1
  • 27
    • 0032915078 scopus 로고    scopus 로고
    • Fabry disease: Comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG)
    • Ashton-Prolla P, Ashley GA, Giugliani R, Pires RF, Desnick RJ, Eng CM. Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG). Am J Med Genet 1999 84 : 420 4.
    • (1999) Am J Med Genet , vol.84 , pp. 420-4
    • Ashton-Prolla, P.1    Ashley, G.A.2    Giugliani, R.3    Pires, R.F.4    Desnick, R.J.5    Eng, C.M.6
  • 28
    • 0023491138 scopus 로고
    • Fabry disease: Molecular diagnosis of hemizygotes and heterozygotes
    • Desnick RJ, Bernstein HS, Astrin KH, Bishop DF. Fabry disease: molecular diagnosis of hemizygotes and heterozygotes. Enzyme 1987 38 : 54 64.
    • (1987) Enzyme , vol.38 , pp. 54-64
    • Desnick, R.J.1    Bernstein, H.S.2    Astrin, K.H.3    Bishop, D.F.4
  • 29
    • 0000889058 scopus 로고    scopus 로고
    • α-Galactosidase a deficiency: Fabry disease
    • In: Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D., editors. 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, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York : McGraw-Hill, 2001 : 3733 74.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease. 8th Ed. , pp. 3733-74
    • Desnick, R.J.1    Ioannou, Y.A.2    Eng, C.M.3
  • 30
    • 33646679166 scopus 로고    scopus 로고
    • Disease manifestations and X inactivation in heterozygous females with Fabry disease
    • Maier EM, Osterrieder S, Whybra C, Ries M, Gal A, Beck M, et al. Disease manifestations and X inactivation in heterozygous females with Fabry disease. Acta Paediatr 2006 95 (Suppl 451 30 8.
    • (2006) Acta Paediatr , vol.95 , Issue.451 , pp. 30-8
    • Maier, E.M.1    Osterrieder, S.2    Whybra, C.3    Ries, M.4    Gal, A.5    Beck, M.6
  • 31
    • 13844276598 scopus 로고    scopus 로고
    • Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease
    • Mills K, Morris P, Lee P, Vellodi A, Waldek S, Young E, et al. Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease. J Inherit Metab Dis 2005 28 : 35 48.
    • (2005) J Inherit Metab Dis , vol.28 , pp. 35-48
    • Mills, K.1    Morris, P.2    Lee, P.3    Vellodi, A.4    Waldek, S.5    Young, E.6
  • 32
    • 16844377475 scopus 로고    scopus 로고
    • Is globotriaosylceramide a useful biomarker in Fabry disease?
    • Young E, Mills K, Morris P, Vellodi A, Lee P, Waldek S, et al. Is globotriaosylceramide a useful biomarker in Fabry disease? Acta Paediatr 2005 94 (Suppl 447 51 4.
    • (2005) Acta Paediatr , vol.94 , Issue.447 , pp. 51-4
    • Young, E.1    Mills, K.2    Morris, P.3    Vellodi, A.4    Lee, P.5    Waldek, S.6
  • 33
    • 0019976287 scopus 로고
    • Fabry disease: Detection of heterozygotes by examination of glycolipids in urinary sediment
    • Cable WJ, McCluer RH, Kolodny EH, Ullman MD. Fabry disease: detection of heterozygotes by examination of glycolipids in urinary sediment. Neurology 1982 32 : 1139 45.
    • (1982) Neurology , vol.32 , pp. 1139-45
    • Cable, W.J.1    McCluer, R.H.2    Kolodny, E.H.3    Ullman, M.D.4
  • 34
    • 25444446897 scopus 로고    scopus 로고
    • The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: A cross-sectional study of a large cohort of clinically affected heterozygous women
    • Gupta S, Ries M, Kotsopoulos S, Schiffmann R. The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women. Medicine (Baltimore) 2005 84 : 261 8.
    • (2005) Medicine (Baltimore) , vol.84 , pp. 261-8
    • Gupta, S.1    Ries, M.2    Kotsopoulos, S.3    Schiffmann, R.4
  • 35
    • 4544344055 scopus 로고    scopus 로고
    • Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy
    • Chimenti C, Pieroni M, Morgante E, Antuzzi D, Russo A, Russo MA, et al. Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation 2004 110 : 1047 53.
    • (2004) Circulation , vol.110 , pp. 1047-53
    • Chimenti, C.1    Pieroni, M.2    Morgante, E.3    Antuzzi, D.4    Russo, A.5    Russo, M.A.6
  • 36
    • 0033222974 scopus 로고    scopus 로고
    • Postmortem diagnosis of Fabry disease in a female heterozygote leading to the detection of undiagnosed manifest disease in the family
    • Hulkova H, Ledvinova J, Poupetova H, Bultas J, Zeman J, Elleder M. Postmortem diagnosis of Fabry disease in a female heterozygote leading to the detection of undiagnosed manifest disease in the family. Cas Lek Cesk 1999 138 : 660 4.
    • (1999) Cas Lek Cesk , vol.138 , pp. 660-4
    • Hulkova, H.1    Ledvinova, J.2    Poupetova, H.3    Bultas, J.4    Zeman, J.5    Elleder, M.6
  • 37
    • 33745023440 scopus 로고    scopus 로고
    • A 67-year-old woman with chronic proteinuria. Focal segmental and global glomerulosclerosis with light microscopic and ultrastructural features consistent with Fabry disease
    • Osunkoya AO, Agte SD, Laszik Z. A 67-year-old woman with chronic proteinuria. Focal segmental and global glomerulosclerosis with light microscopic and ultrastructural features consistent with Fabry disease. Arch Pathol Lab Med 2006 130 : e93 5.
    • (2006) Arch Pathol Lab Med , vol.130
    • Osunkoya, A.O.1    Agte, S.D.2    Laszik, Z.3
  • 40
    • 27844440793 scopus 로고    scopus 로고
    • Prevalence of Fabry disease in patients with cryptogenic stroke: A prospective study
    • Rolfs A, Bottcher T, Zschiesche M, Morris P, Winchester B, Bauer P, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 2005 366 : 1794 6.
    • (2005) Lancet , vol.366 , pp. 1794-6
    • Rolfs, A.1    Bottcher, T.2    Zschiesche, M.3    Morris, P.4    Winchester, B.5    Bauer, P.6
  • 41
    • 41049090019 scopus 로고    scopus 로고
    • Fabry disease in females: Clinical characteristics and the effects of enzyme replacement therapy
    • In: Mehta, A., Beck, M., Sunder-Plassmann, G., editors. Oxford: Oxford PharmaGenesis
    • Deegan P, Baehner AF, Barba-Romero MA, Hughes D, Beck M. Fabry disease in females: clinical characteristics and the effects of enzyme replacement therapy. In : Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry disease: perspectives from 5 years of FOS. Oxford : Oxford PharmaGenesis, 2006 : 295 304.
    • (2006) Fabry Disease: Perspectives from 5 Years of FOS. , pp. 295-304
    • Deegan, P.1    Baehner, A.F.2    Barba-Romero, M.A.3    Hughes, D.4    Beck, M.5
  • 42
    • 0348149005 scopus 로고    scopus 로고
    • Enzyme replacement therapy in heterozygous females with Fabry disease: Results of a phase IIIB study
    • Baehner F, Kampmann C, Whybra C, Miebach E, Wiethoff CM, Beck M. Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study. J Inherit Metab Dis 2003 26 : 617 27.
    • (2003) J Inherit Metab Dis , vol.26 , pp. 617-27
    • Baehner, F.1    Kampmann, C.2    Whybra, C.3    Miebach, E.4    Wiethoff, C.M.5    Beck, M.6
  • 43
    • 11144358101 scopus 로고    scopus 로고
    • The Mainz Severity Score Index: A new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy
    • Whybra C, Kampmann C, Krummenauer F, Ries M, Mengel E, Miebach E, et al. The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet 2004 65 : 299 307.
    • (2004) Clin Genet , vol.65 , pp. 299-307
    • Whybra, C.1    Kampmann, C.2    Krummenauer, F.3    Ries, M.4    Mengel, E.5    Miebach, E.6
  • 45
    • 0242487692 scopus 로고    scopus 로고
    • The early clinical phenotype of Fabry disease: A study on 35 European children and adolescents
    • Ries M, Ramaswami U, Parini R, Lindblad B, Whybra C, Willers I, et al. The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents. Eur J Pediatr 2003 162 : 767 72.
    • (2003) Eur J Pediatr , vol.162 , pp. 767-72
    • Ries, M.1    Ramaswami, U.2    Parini, R.3    Lindblad, B.4    Whybra, C.5    Willers, I.6
  • 46
    • 0020037521 scopus 로고
    • Fabry disease: Significance of ultrastructural localization of lipid inclusions in dermal nerves
    • Cable WJ, Dvorak AM, Osage JE, Kolodny EH. Fabry disease: significance of ultrastructural localization of lipid inclusions in dermal nerves. Neurology 1982 32 : 347 53.
    • (1982) Neurology , vol.32 , pp. 347-53
    • Cable, W.J.1    Dvorak, A.M.2    Osage, J.E.3    Kolodny, E.H.4
  • 47
    • 0032211955 scopus 로고    scopus 로고
    • The ultrastructural characteristics of eccrine sweat glands in a Fabry disease patient with hypohidrosis
    • Lao LM, Kumakiri M, Mima H, Kuwahara H, Ishida H, Ishiguro K, et al. The ultrastructural characteristics of eccrine sweat glands in a Fabry disease patient with hypohidrosis. J Dermatol Sci 1998 18 : 109 17.
    • (1998) J Dermatol Sci , vol.18 , pp. 109-17
    • Lao, L.M.1    Kumakiri, M.2    Mima, H.3    Kuwahara, H.4    Ishida, H.5    Ishiguro, K.6
  • 49
    • 34250721523 scopus 로고    scopus 로고
    • Guidelines for the diagnosis and management of Anderson-Fabry disease. Publications and statistics
    • Hughes DA, Ramaswami U, Elliott P, Deegan P, Lee P, Waldek S, et al. Guidelines for the diagnosis and management of Anderson-Fabry disease. Publications and statistics. Department of Health 2005 : 1 37.
    • (2005) Department of Health , pp. 1-37
    • Hughes, D.A.1    Ramaswami, U.2    Elliott, P.3    Deegan, P.4    Lee, P.5    Waldek, S.6
  • 50
    • 33745684367 scopus 로고    scopus 로고
    • A systematic review of the clinical effectiveness and cost-effectiveness of enzyme replacement therapies for Fabry's disease and mucopolysaccharidosis type 1
    • Connock M, Juarez-Garcia A, Frew E, Mans A, Dretzke J, Fry-Smith A, et al. A systematic review of the clinical effectiveness and cost-effectiveness of enzyme replacement therapies for Fabry's disease and mucopolysaccharidosis type 1. Health Technol Assess 2006 10 : iii 136.
    • (2006) Health Technol Assess , vol.10
    • Connock, M.1    Juarez-Garcia, A.2    Frew, E.3    Mans, A.4    Dretzke, J.5    Fry-Smith, A.6
  • 52
    • 0036240872 scopus 로고    scopus 로고
    • Assessment of health-related quality-of-life in males with Anderson-Fabry disease before therapeutic intervention
    • Miners AH, Holmes A, Sherr L, Jenkinson C, MacDermot KD. Assessment of health-related quality-of-life in males with Anderson-Fabry disease before therapeutic intervention. Qual Life Res 2002 11 : 127 33.
    • (2002) Qual Life Res , vol.11 , pp. 127-33
    • Miners, A.H.1    Holmes, A.2    Sherr, L.3    Jenkinson, C.4    MacDermot, K.D.5
  • 53
    • 33746908556 scopus 로고    scopus 로고
    • Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease
    • Street NJ, Yi MS, Bailey LA, Hopkin RJ. Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease. Genet Med 2006 8 : 346 53.
    • (2006) Genet Med , vol.8 , pp. 346-53
    • Street, N.J.1    Yi, M.S.2    Bailey, L.A.3    Hopkin, R.J.4
  • 54
    • 33847749485 scopus 로고    scopus 로고
    • Enzyme replacement therapy in orphan and ultra-orphan diseases: The limitations of standard economic metrics as exemplified by Fabry-Anderson disease
    • Moore DF, Ries M, Forget EL, Schiffmann R. Enzyme replacement therapy in orphan and ultra-orphan diseases: the limitations of standard economic metrics as exemplified by Fabry-Anderson disease. Pharmacoeconomics 2007 25 : 201 8.
    • (2007) Pharmacoeconomics , vol.25 , pp. 201-8
    • Moore, D.F.1    Ries, M.2    Forget, E.L.3    Schiffmann, R.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.