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Volumn 63, Issue 3, 2011, Pages 314-321

Fabry-Anderson disease: Current state of knowledge;La enfermedad de Fabry-Anderson: Estado actual del conocimiento

Author keywords

galactosidase; Fabry Anderson disease; Glycosphingolipids; Lysosomal storage disease; Physiopathology

Indexed keywords

ENZYME REPLACEMENT; FABRY DISEASE; GENETICS; METABOLIC DISORDER; MOLECULAR BIOLOGY; REVIEW;

EID: 80052132733     PISSN: 00348376     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (4)

References (59)
  • 1
    • 34447607076 scopus 로고
    • Ein Beitrag Zur Kenntnis der Purpura haemorrhagica nodularis
    • Fabry J. Ein Beitrag Zur Kenntnis der Purpura haemorrhagica nodularis. Arch Dermatol Syphilis 1898; 43: 187-200.
    • (1898) Arch Dermatol Syphilis , vol.43 , pp. 187-200
    • Fabry, J.1
  • 2
    • 84980085880 scopus 로고
    • A case of angioqueratoma
    • Anderson WA. A case of angioqueratoma. Br J Dermatol 1898; 10: 113-7.
    • (1898) Br J Dermatol , vol.10 , pp. 113-117
    • Anderson, W.A.1
  • 3
    • 78651001239 scopus 로고
    • Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease: Two autopsy reports
    • Pompen AWM, Ruiter M, Wyers HJG. Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease: two autopsy reports. Act Med Scand 1947; 1128: 234-55.
    • (1947) Act Med Scand , vol.1128 , pp. 234-255
    • Pompen, A.W.M.1    Ruiter, M.2    Wyers, H.J.G.3
  • 4
    • 0001089467 scopus 로고
    • Fabry's disease: Classification as sphingolipidosis and partial characterization of a novel glycolipid
    • Sweeley CC. Fabry's disease: classification as sphingolipidosis and partial characterization of a novel glycolipid. J Biol Chem 1963; 238: 3148-50.
    • (1963) J Biol Chem , vol.238 , pp. 3148-3150
    • Sweeley, C.C.1
  • 6
    • 0024794152 scopus 로고
    • The gene encoding alpha-galactosidase A and gene rearrangements causing Fabry disease
    • Kornreich R, Bishop DF, Desnick RJ. The gene encoding alpha-galactosidase A and gene rearrangements causing Fabry disease. Trans Assoc Am Physicians 1989; 102: 30-43.
    • (1989) Trans Assoc Am Physicians , vol.102 , pp. 30-43
    • Kornreich, R.1    Bishop, D.F.2    Desnick, R.J.3
  • 9
    • 0037177166 scopus 로고    scopus 로고
    • Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy
    • DOI 10.1161/01.CIR.0000012626.81324.38
    • Sachdev B, Takenaka T, Teraguchi H, et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 2002; 105: 1407-11. (Pubitemid 34263268)
    • (2002) Circulation , vol.105 , Issue.12 , pp. 1407-1411
    • Sachdev, B.1    Takenaka, T.2    Teraguchi, H.3    Tei, C.4    Lee, P.5    McKenna, W.J.6    Elliott, P.M.7
  • 11
    • 0038820858 scopus 로고    scopus 로고
    • Screening for Fabry disease in end stage nephropaties
    • Spada M, Pagliardini S. Screening for Fabry disease in end stage nephropaties. J Inherit Metab Dis 2002; 25(Suppl.): S113.
    • (2002) J Inherit Metab Dis , vol.25 , Issue.SUPPL.
    • Spada, M.1    Pagliardini, S.2
  • 15
    • 23844500993 scopus 로고    scopus 로고
    • Fabry disease in patients with end stage renal failure: The potential benefits of screening
    • Bekri S, Enica A, Ghafari T, et al. Fabry disease in patients with end stage renal failure: the potential benefits of screening. Nephrol Clin Pract 2005; 101: 33-5.
    • (2005) Nephrol Clin Pract , vol.101 , pp. 33-35
    • Bekri, S.1    Enica, A.2    Ghafari, T.3
  • 18
    • 0035985052 scopus 로고    scopus 로고
    • Biosynthesis of lysosomal proteinases in health and disease
    • DOI 10.1515/BC.2002.078
    • Mach L. Biosynthesis of lysosomal proeinases in health and disease. Biol Chem 2002; 383: 751-6. (Pubitemid 34649893)
    • (2002) Biological Chemistry , vol.383 , Issue.5 , pp. 751-756
    • Mach, L.1
  • 20
    • 32944476769 scopus 로고    scopus 로고
    • Enzyme replacement for lysosomal disease
    • Brady RO. Enzyme replacement for lysosomal disease. Annu Rev Med 2006; 57: 283-96.
    • (2006) Annu Rev Med , vol.57 , pp. 283-296
    • Brady, R.O.1
  • 24
    • 73349104133 scopus 로고    scopus 로고
    • Biochemical basis of Fabry disease with emphasis on mitochondiral funcition and protein trafficking
    • Das AM, Naim HY. Biochemical basis of Fabry disease with emphasis on mitochondiral funcition and protein trafficking. Adv Clin Chem 2009; 49: 57-71.
    • (2009) Adv Clin Chem , vol.49 , pp. 57-71
    • Das, A.M.1    Naim, H.Y.2
  • 25
    • 0036266203 scopus 로고    scopus 로고
    • Biochemical and molecular genetic basis of Fabry disease
    • Pastores GM, Lien YH. Biochemical and molecular genetic basis of Fabry disease. J Am Soc Nephrol 2002; 13(Suppl. 2): 130-3.
    • (2002) J Am Soc Nephrol , vol.13 , Issue.SUPPL. 2 , pp. 130-133
    • Pastores, G.M.1    Lien, Y.H.2
  • 28
    • 2242467355 scopus 로고    scopus 로고
    • Nefropatía de células espumosas en mujer heterocigoto portadora de la enfermedad de Fabry
    • Vera-Sempere FJ, García A, Sánchez MA, et al. Nefropatía de células espumosas en mujer heterocigoto portadora de la enfermedad de Fabry. Nefrología 2002; 22: 287-92.
    • (2002) Nefrología , vol.22 , pp. 287-292
    • Vera-Sempere, F.J.1    García, A.2    Sánchez, M.A.3
  • 29
    • 0037452544 scopus 로고    scopus 로고
    • Fabry disease, an under-recognized miltisystemic diseorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy
    • Desnik RJ, Brady R, Barraguer J, et al. Fabry disease, an under-recognized miltisystemic diseorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Inter Med 2003; 138: 338-46.
    • (2003) Ann Inter Med , vol.138 , pp. 338-346
    • Desnik, R.J.1    Brady, R.2    Barraguer, J.3
  • 30
    • 0038317846 scopus 로고    scopus 로고
    • La enfermedad de Fabry
    • Torra R, Ballarin J. La enfermedad de Fabry. Nefrologia 2003; 23(Supl. 1): 84-9.
    • (2003) Nefrologia , vol.23 , Issue.SUPPL. 1 , pp. 84-89
    • Torra, R.1    Ballarin, J.2
  • 31
    • 33947718746 scopus 로고    scopus 로고
    • Narrative Review: Fabry Disease
    • Clarke J. Narrative Review: Fabry Disease. Ann Intern Med 2007; 146: 425-33.
    • (2007) Ann Intern Med , vol.146 , pp. 425-433
    • Clarke, J.1
  • 35
    • 0034766525 scopus 로고    scopus 로고
    • Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males
    • McDermot KD, Hokmes 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. (Pubitemid 33032930)
    • (2001) Journal of Medical Genetics , vol.38 , Issue.11 , pp. 750-760
    • MacDermot, K.D.1    Holmes, A.2    Miners, A.H.3
  • 38
    • 0034754467 scopus 로고    scopus 로고
    • Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females [1]
    • MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestation and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 2001; 38: 769-75. (Pubitemid 33032933)
    • (2001) Journal of Medical Genetics , vol.38 , Issue.11 , pp. 769-775
    • MacDermot, K.D.1    Holmes, A.2    Miners, A.H.3
  • 39
  • 40
    • 0029023150 scopus 로고
    • An atypical variant of Fabry's disease in men with left ventricular hypertrophy
    • Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, Tahara M, et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 1995; 333: 288-93.
    • (1995) N Engl J Med , vol.333 , pp. 288-293
    • Nakao, S.1    Takenaka, T.2    Maeda, M.3    Kodama, C.4    Tanaka, A.5    Tahara, M.6
  • 41
    • 0037177166 scopus 로고    scopus 로고
    • Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy
    • DOI 10.1161/01.CIR.0000012626.81324.38
    • Sachdev B, Takenaka T, Teraguchi H, Tei C, Lee P, Mc Kenna WJ, et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 2002; 105: 1407-11. (Pubitemid 34263268)
    • (2002) Circulation , vol.105 , Issue.12 , pp. 1407-1411
    • Sachdev, B.1    Takenaka, T.2    Teraguchi, H.3    Tei, C.4    Lee, P.5    McKenna, W.J.6    Elliott, P.M.7
  • 43
    • 73149122378 scopus 로고    scopus 로고
    • Anderson-fabry disease and the heart
    • O'Mahony C, Elliott P. Anderson-fabry disease and the heart. Prog Cardiovasc Dis 2010; 52(4): 326-35.
    • (2010) Prog Cardiovasc Dis , vol.52 , Issue.4 , pp. 326-335
    • O'Mahony, C.1    Elliott, P.2
  • 44
    • 0031297359 scopus 로고    scopus 로고
    • Kidney involvement in Anderson-Fabry disease
    • Meroni M, Sessa A, Battini G, et al. Kidney involvement in Anderson-Fabry disease. Contrib Nephrol 1997; 7: 179-84.
    • (1997) Contrib Nephrol , vol.7 , pp. 179-184
    • Meroni, M.1    Sessa, A.2    Battini, G.3
  • 45
    • 0036263495 scopus 로고    scopus 로고
    • Renal pathology in Fabry disease
    • Alroy J, Sabnis S, Kopp JB. Renal pathology in Fabry disease. J Am Soc Nephrol 2002; 13(Suppl. 2): 134-8.
    • (2002) J Am Soc Nephrol , vol.13 , Issue.SUPPL. 2 , pp. 134-138
    • Alroy, J.1    Sabnis, S.2    Kopp, J.B.3
  • 46
    • 74049125336 scopus 로고    scopus 로고
    • Fabry disease: Recent advances in pathology, diagnosis, treatment and monitoring
    • Hoffmann B. Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring. Orphanet J Rare Dis 2009; 4: 21.
    • (2009) Orphanet J Rare Dis , vol.4 , pp. 21
    • Hoffmann, B.1
  • 48
    • 33645218156 scopus 로고    scopus 로고
    • Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblast and Fabry mice
    • Sakuraba H, Murata-Ohsawa M, Kawashima I, Tajima Y, Kotani M, Ohshima T. Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblast and Fabry mice. J Hum Genet 2006; 51: 180-8.
    • (2006) J Hum Genet , vol.51 , pp. 180-188
    • Sakuraba, H.1    Murata-Ohsawa, M.2    Kawashima, I.3    Tajima, Y.4    Kotani, M.5    Ohshima, T.6
  • 50
    • 44949248124 scopus 로고    scopus 로고
    • Treatment of Fabry disease with different dosing regimens of agalsidase: Effects on antibody formation and GL-3
    • Vedder AC, Breuning F, Donker-Koopman WE, et al. Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3. Mol Genet Metab 2008; 94(3): 319-25.
    • (2008) Mol Genet Metab , vol.94 , Issue.3 , pp. 319-325
    • Vedder, A.C.1    Breuning, F.2    Donker-Koopman, W.E.3
  • 52
    • 38749130497 scopus 로고    scopus 로고
    • Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: A randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa
    • DOI 10.1136/hrt.2006.104026
    • Hughes DA, Elliott PM, Shah J, et al. Effects of enzyme replacement therapy ob the cardiomyopathy of Anderson-Fabry disease; a randomised, double-blind, palcebo-controlled clinical trial of agalsidase alfa. Heart 2008; 94 (2): 153-8. (Pubitemid 351211719)
    • (2008) Heart , vol.94 , Issue.2 , pp. 153-158
    • Hughes, D.A.1    Elliott, P.M.2    Shah, J.3    Zuckerman, J.4    Coghlan, G.5    Brookes, J.6    Mehta, A.B.7
  • 53
    • 71649111830 scopus 로고    scopus 로고
    • Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: An analysis of registry data
    • Metha A. Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data. Lancet 2009; 374(4): 1986-96.
    • (2009) Lancet , vol.374 , Issue.4 , pp. 1986-1996
    • Metha, A.1
  • 54
    • 34848819423 scopus 로고    scopus 로고
    • Influence of antibody formation on reduction of globotriaosylceramide (GL-3) in urine from Fabry patients during agalsidase beta therapy
    • DOI 10.1016/j.ymgme.2007.06.013, PII S1096719207002089
    • Ohashi T, Sakuma M, Kitagawa T, et al. Influence of antibody formation on reduction of globotriaosylceramide in urine from Fabry patients during agalsidase beta therapy. Mol Genet Metab 2007; 92(3): 271-3. (Pubitemid 47513559)
    • (2007) Molecular Genetics and Metabolism , vol.92 , Issue.3 , pp. 271-273
    • Ohashi, T.1    Sakuma, M.2    Kitagawa, T.3    Suzuki, K.4    Ishige, N.5    Eto, Y.6
  • 56
    • 34848895305 scopus 로고    scopus 로고
    • Is there a neutralizing effect of antibodies against agalsidase alpha and beta?
    • Mengel E, Baron K, Kalkum G. Is there a neutralizing effect of antibodies against agalsidase alpha and beta? Act Paediatr 2007; 96(S455): 108.
    • (2007) Act Paediatr , vol.96 , Issue.S455 , pp. 108
    • Mengel, E.1    Baron, K.2    Kalkum, G.3
  • 57
    • 70350509103 scopus 로고    scopus 로고
    • Enzyme replacement therapy for Fabry disease. A systemic review of available evidence
    • Schafer R, Tylky-Szymanska, Hilz M. Enzyme replacement therapy for Fabry disease. A systemic review of available evidence. Drugs 2009; 69(16): 2179-205.
    • (2009) Drugs , vol.69 , Issue.16 , pp. 2179-2205
    • Schafer, R.1    Tylky-Szymanska2    Hilz, M.3
  • 59
    • 77649338096 scopus 로고    scopus 로고
    • Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative
    • Sirrs S. Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative. Mol Genet Metab 2010; 99(4): 367-73.
    • (2010) Mol Genet Metab , vol.99 , Issue.4 , pp. 367-373
    • Sirrs, S.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.