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Volumn 15, Issue 1, 2014, Pages

Fabry nephropathy: A review - How can we optimize the management of Fabry nephropathy?

Author keywords

Diagnosis; Enzyme replacement therapy; Fabry disease; Management; Nephropathy

Indexed keywords

BIOLOGICAL MARKER; AGALSIDASE ALFA; ALPHA GALACTOSIDASE; ISOENZYME;

EID: 84901370511     PISSN: None     EISSN: 14712369     Source Type: Journal    
DOI: 10.1186/1471-2369-15-72     Document Type: Review
Times cited : (78)

References (107)
  • 1
    • 0000889058 scopus 로고    scopus 로고
    • α-Galactosidase A deficiency: Fabry disease
    • New York, USA: McGraw Hill Scriver CR, Beaudet AL, Sly WS, Valle D 8
    • α-Galactosidase A deficiency: Fabry disease. Desnick RJ, Ioannou YA, Eng CM, The metabolic and molecular bases of inherited disease New York, USA: McGraw Hill, Scriver CR, Beaudet AL, Sly WS, Valle D, 8 2001 3733 3774
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3733-3774
    • Desnick, R.J.1    Ioannou, Y.A.2    Eng, C.M.3
  • 2
    • 77955911050 scopus 로고    scopus 로고
    • Fabry disease
    • 10.1186/1750-1172-5-30 21092187
    • Fabry disease. Germain DP, Orphanet J Rare Dis 2010 5 30 10.1186/1750-1172-5-30 21092187
    • (2010) Orphanet J Rare Dis , vol.5 , pp. 30
    • Germain, D.P.1
  • 6
    • 43049092306 scopus 로고    scopus 로고
    • Renal Biopsy Findings in Children and Adolescents With Fabry Disease and Minimal Albuminuria
    • DOI 10.1053/j.ajkd.2007.12.032, PII S0272638608000668
    • Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. Tondel C, Bostad L, Hirth A, Svarstad E, Am J Kidney Dis 2008 51 767 776 10.1053/j.ajkd.2007.12.032 18436087 (Pubitemid 351626251)
    • (2008) American Journal of Kidney Diseases , vol.51 , Issue.5 , pp. 767-776
    • Tondel, C.1    Bostad, L.2    Hirth, A.3    Svarstad, E.4
  • 8
    • 44449143398 scopus 로고    scopus 로고
    • Nephropathy in males and females with Fabry disease: Cross-sectional description of patients before treatment with enzyme replacement therapy
    • DOI 10.1093/ndt/gfm848
    • Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy. Ortiz A, Oliveira JP, Waldek S, Warnock DG, Cianciaruso B, Wanner C, Nephrol Dial Transplant 2008 23 1600 1607 10.1093/ndt/gfm848 18175781 (Pubitemid 351767751)
    • (2008) Nephrology Dialysis Transplantation , vol.23 , Issue.5 , pp. 1600-1607
    • Ortiz, A.1    Oliveira, J.P.2    Waldek, S.3    Warnock, D.G.4    Cianciaruso, B.5    Wanner, C.6
  • 9
    • 84858281233 scopus 로고    scopus 로고
    • Interdisciplinary approach towards female patients with Fabry disease
    • 10.1111/j.1365-2362.2011.02614.x 22049975
    • Interdisciplinary approach towards female patients with Fabry disease. Weidemann F, Niemann M, Beer M, Breunig F, Wanner C, Eur J Clin Invest 2012 42 455 462 10.1111/j.1365-2362.2011.02614.x 22049975
    • (2012) Eur J Clin Invest , vol.42 , pp. 455-462
    • Weidemann, F.1    Niemann, M.2    Beer, M.3    Breunig, F.4    Wanner, C.5
  • 11
    • 0019427530 scopus 로고
    • Light- and electron-microscopic histochemistry of Fabry's disease
    • Light- and electron-microscopic histochemistry of Fabry's disease. Faraggiana T, Churg J, Grishman E, Strauss L, Prado A, Bishop DF, Schuchman E, Desnick RJ, Am J Pathol 1981 103 247 262 6786101 (Pubitemid 11112979)
    • (1981) American Journal of Pathology , vol.103 , Issue.2 , pp. 247-262
    • Faraggiana, T.1    Churg, J.2    Grishman, E.3
  • 12
    • 0017872842 scopus 로고
    • Early renal changes in hemizygous and heterozygous patients with Fabry's disease
    • Early renal changes in hemizygous and heterozygous patients with Fabry's disease. Gubler MC, Lenoir G, Grunfeld JP, Ulmann A, Droz D, Habib R, Kidney Int 1978 13 223 235 10.1038/ki.1978.32 418264 (Pubitemid 8304328)
    • (1978) Kidney International , vol.13 , Issue.3 , pp. 223-235
    • Gubler, M.C.1    Lenoir, G.2    Grunfeld, J.P.3
  • 13
    • 0036263495 scopus 로고    scopus 로고
    • Renal pathology in Fabry disease
    • 11752030
    • Renal pathology in Fabry disease. Alroy J, Sabnis S, Kopp JB, J Am Soc Nephrol 2002 13 Suppl 2 134 138 11752030
    • (2002) J Am Soc Nephrol , vol.13 , Issue.SUPPL. 2 , pp. 134-138
    • Alroy, J.1    Sabnis, S.2    Kopp, J.B.3
  • 14
    • 33748881819 scopus 로고    scopus 로고
    • Fabry disease: A morphologic study of 11 cases
    • DOI 10.1038/modpathol.3800634, PII 3800634
    • Fabry disease: a morphologic study of 11 cases. Fischer EG, Moore MJ, Lager DJ, Mod Pathol 2006 19 1295 1301 10.1038/modpathol.3800634 16799480 (Pubitemid 44423075)
    • (2006) Modern Pathology , vol.19 , Issue.10 , pp. 1295-1301
    • Fischer, E.G.1    Moore, M.J.2    Lager, D.J.3
  • 16
    • 79952192786 scopus 로고    scopus 로고
    • Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease
    • 10.1038/ki.2010.484 21160462
    • Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease. Najafian B, Svarstad E, Bostad L, Gubler MC, Tondel C, Whitley C, Mauer M, Kidney Int 2011 79 663 670 10.1038/ki.2010.484 21160462
    • (2011) Kidney Int , vol.79 , pp. 663-670
    • Najafian, B.1    Svarstad, E.2    Bostad, L.3    Gubler, M.C.4    Tondel, C.5    Whitley, C.6    Mauer, M.7
  • 18
    • 74549136069 scopus 로고    scopus 로고
    • Renal disease caused by familial metabolic and hematologic diseases
    • Philadelphia, PA: Lippincott Williams & Wilkins Jennette JC, Olsen JL, Schwartz MM, Silva FG 6
    • Renal disease caused by familial metabolic and hematologic diseases. Finn L, Heptinstall's pathology of the kidney Philadelphia, PA: Lippincott Williams & Wilkins, Jennette JC, Olsen JL, Schwartz MM, Silva FG, 6 2007 1199 1256
    • (2007) Heptinstall's Pathology of the Kidney , pp. 1199-1256
    • Finn, L.1
  • 21
    • 34249984519 scopus 로고    scopus 로고
    • An association study of inflammatory cytokine gene polymorphisms in Fabry disease
    • 17353161
    • An association study of inflammatory cytokine gene polymorphisms in Fabry disease. Safyan R, Whybra C, Beck M, Elstein D, Altarescu G, Eur Cytokine Netw 2006 17 271 275 17353161
    • (2006) Eur Cytokine Netw , vol.17 , pp. 271-275
    • Safyan, R.1    Whybra, C.2    Beck, M.3    Elstein, D.4    Altarescu, G.5
  • 22
    • 53749095321 scopus 로고    scopus 로고
    • Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells
    • 10.1016/j.ymgme.2008.06.016 18707907
    • Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells. Shen JS, Meng XL, Moore DF, Quirk JM, Shayman JA, Schiffmann R, Kaneski CR, Mol Genet Metab 2008 95 163 168 10.1016/j.ymgme.2008.06.016 18707907
    • (2008) Mol Genet Metab , vol.95 , pp. 163-168
    • Shen, J.S.1    Meng, X.L.2    Moore, D.F.3    Quirk, J.M.4    Shayman, J.A.5    Schiffmann, R.6    Kaneski, C.R.7
  • 23
    • 73749088671 scopus 로고    scopus 로고
    • Vasculopathy in patients with Fabry disease: Current controversies and research directions
    • 10.1016/j.ymgme.2009.10.004 19900828
    • Vasculopathy in patients with Fabry disease: current controversies and research directions. Rombach SM, Twickler TB, Aerts JM, Linthorst GE, Wijburg FA, Hollak CE, Mol Genet Metab 2010 99 99 108 10.1016/j.ymgme.2009.10.004 19900828
    • (2010) Mol Genet Metab , vol.99 , pp. 99-108
    • Rombach, S.M.1    Twickler, T.B.2    Aerts, J.M.3    Linthorst, G.E.4    Wijburg, F.A.5    Hollak, C.E.6
  • 26
  • 27
    • 0034660663 scopus 로고    scopus 로고
    • Excellent outcome of renal transplantation in patients with Fabry's disease
    • Excellent outcome of renal transplantation in patients with Fabry's disease. Ojo A, Meier-Kriesche HU, Friedman G, Hanson J, Cibrik D, Leichtman A, Kaplan B, Transplantation 2000 69 2337 2339 10.1097/00007890-200006150-00020 10868636 (Pubitemid 30408999)
    • (2000) Transplantation , vol.69 , Issue.11 , pp. 2337-2339
    • Ojo, A.1    Meier-Kriesche, H.-U.2    Friedman, G.3    Hanson, J.4    Cibrik, D.5    Leichtman, A.6    Kaplan, B.7
  • 28
    • 73849102063 scopus 로고    scopus 로고
    • Life expectancy and cause of death in males and females with Fabry disease: Findings from the Fabry Registry
    • 10.1097/GIM.0b013e3181bb05bb 19745746
    • Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P, Genet Med 2009 11 790 796 10.1097/GIM.0b013e3181bb05bb 19745746
    • (2009) Genet Med , vol.11 , pp. 790-796
    • Waldek, S.1    Patel, M.R.2    Banikazemi, M.3    Lemay, R.4    Lee, P.5
  • 29
    • 84885479565 scopus 로고    scopus 로고
    • Fabry disease practice guidelines: Recommendations of the National Society of Genetic Counselors
    • 10.1007/s10897-013-9613-3 23860966
    • Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. Laney DA, Bennett RL, Clarke V, Fox A, Hopkin RJ, Johnson J, O'Rourke E, Sims K, Walter G, J Genet Couns 2013 22 555 564 10.1007/s10897-013-9613-3 23860966
    • (2013) J Genet Couns , vol.22 , pp. 555-564
    • Laney, D.A.1    Bennett, R.L.2    Clarke, V.3    Fox, A.4    Hopkin, R.J.5    Johnson, J.6    O'Rourke, E.7    Sims, K.8    Walter, G.9
  • 30
    • 78650741561 scopus 로고    scopus 로고
    • Fabry disease: Enzymatic screening using dried blood spots on filter paper
    • 21211677
    • Fabry disease: enzymatic screening using dried blood spots on filter paper. Caudron E, Dermain DP, Prognon P, Rev Med Interne 2010 31 263 S269 21211677
    • (2010) Rev Med Interne , vol.31
    • Caudron, E.1    Dermain, D.P.2    Prognon, P.3
  • 31
    • 84866177930 scopus 로고    scopus 로고
    • Targeted urine microscopy in Anderson-Fabry disease: A cheap, sensitive and specific diagnostic technique
    • 10.1093/ndt/gfr084 21382994
    • Targeted urine microscopy in Anderson-Fabry disease: a cheap, sensitive and specific diagnostic technique. Selvarajah M, Nicholls K, Hewitson TD, Becker GJ, Nephrol Dial Transplant 2011 26 3195 3202 10.1093/ndt/gfr084 21382994
    • (2011) Nephrol Dial Transplant , vol.26 , pp. 3195-3202
    • Selvarajah, M.1    Nicholls, K.2    Hewitson, T.D.3    Becker, G.J.4
  • 32
    • 84871906107 scopus 로고    scopus 로고
    • Agalsidase benefits renal histology in young patients with Fabry disease
    • 10.1681/ASN.2012030316 23274955
    • Agalsidase benefits renal histology in young patients with Fabry disease. Tondel C, Bostad L, Larsen KK, Hirth A, Vikse BE, Houge G, Svarstad E, J Am Soc Nephrol 2013 24 137 148 10.1681/ASN.2012030316 23274955
    • (2013) J Am Soc Nephrol , vol.24 , pp. 137-148
    • Tondel, C.1    Bostad, L.2    Larsen, K.K.3    Hirth, A.4    Vikse, B.E.5    Houge, G.6    Svarstad, E.7
  • 34
    • 77749320320 scopus 로고    scopus 로고
    • Enzyme replacement therapy and Fabry nephropathy
    • 10.2215/CJN.06900909 20007680
    • Enzyme replacement therapy and Fabry nephropathy. Warnock DG, Daina E, Remuzzi G, West M, Clin J Am Soc Nephrol 2010 5 371 378 10.2215/CJN.06900909 20007680
    • (2010) Clin J Am Soc Nephrol , vol.5 , pp. 371-378
    • Warnock, D.G.1    Daina, E.2    Remuzzi, G.3    West, M.4
  • 35
    • 84884664020 scopus 로고    scopus 로고
    • Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease
    • 10.1371/journal.pgen.1003632 23935525
    • Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. Lukas J, Giese AK, Markoff A, Grittner U, Kolodny E, Mascher H, Lackner KJ, Meyer W, Wree P, Saviouk V, Rolfs A, PLoS Genet 2013 9 1003632 10.1371/journal.pgen.1003632 23935525
    • (2013) PLoS Genet , vol.9 , pp. 51003632
    • Lukas, J.1    Giese, A.K.2    Markoff, A.3    Grittner, U.4    Kolodny, E.5    Mascher, H.6    Lackner, K.J.7    Meyer, W.8    Wree, P.9    Saviouk, V.10    Rolfs, A.11
  • 38
    • 84901350804 scopus 로고    scopus 로고
    • SOP for Anderson-Fabry disease. National Health Services, http://www.webarchive.org.uk/wayback/archive/20130325153347/http://www. specialisedservices.nhs.uk/library/23/SOP-for-Anderson-Fabry-disease.pdf
    • SOP for Anderson-Fabry Disease
    • Health Services, N.1
  • 39
    • 77954801038 scopus 로고    scopus 로고
    • The value of estimated GFR in comparison to measured GFR for the assessment of renal function in adult patients with Fabry disease
    • 10.1093/ndt/gfq108 20215390
    • The value of estimated GFR in comparison to measured GFR for the assessment of renal function in adult patients with Fabry disease. Rombach SM, Baas MC, ten Berge IJM, Krediet RT, Bemelman FJ, Hollak CEM, Nephrol Dial Transplant 2010 25 2549 2556 10.1093/ndt/gfq108 20215390
    • (2010) Nephrol Dial Transplant , vol.25 , pp. 2549-2556
    • Rombach, S.M.1    Baas, M.C.2    Ten Berge, I.J.M.3    Krediet, R.T.4    Bemelman, F.J.5    Hollak, C.E.M.6
  • 42
    • 31544456336 scopus 로고    scopus 로고
    • Long-term therapy with agalsidase alfa for Fabry disease: Safety and effects on renal function in a home infusion setting
    • DOI 10.1093/ndt/gfi152
    • Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Schiffmann R, Ries M, Timmons M, Flaherty JT, Brady RO, Nephrol Dial Transplant 2006 21 345 354 10.1093/ndt/gfi152 16204287 (Pubitemid 43159987)
    • (2006) Nephrology Dialysis Transplantation , vol.21 , Issue.2 , pp. 345-354
    • Schiffmann, R.1    Ries, M.2    Timmons, M.3    Flaherty, J.T.4    Brady, R.O.5
  • 46
    • 0025346987 scopus 로고
    • Renal changes in heterozygous Fabry's disease - A family study
    • 2105640
    • Renal changes in heterozygous Fabry's disease-a family study. Chen HC, Tsai JH, Lai YH, Guh JY, Am J Kidney Dis 1990 15 180 183 2105640
    • (1990) Am J Kidney Dis , vol.15 , pp. 180-183
    • Chen, H.C.1    Tsai, J.H.2    Lai, Y.H.3    Guh, J.Y.4
  • 48
    • 4344633906 scopus 로고    scopus 로고
    • Parapelvic kidney cysts: A distinguishing feature with high prevalence in Fabry disease
    • DOI 10.1111/j.1523-1755.2004.00846.x
    • Parapelvic kidney cysts: a distinguishing feature with high prevalence in Fabry disease. Ries M, Bettis KEB, Choyke P, Kopp JB, Austin HA, Brady RO, Schiffmann R, Kidney Int 2004 66 978 982 10.1111/j.1523-1755.2004.00846.x 15327390 (Pubitemid 39121001)
    • (2004) Kidney International , vol.66 , Issue.3 , pp. 978-982
    • Ries, M.1    Bove Bettis, K.E.2    Choyke, P.3    Kopp, J.B.4    Austin III, H.A.5    Brady, R.O.6    Schiffmann, R.7
  • 50
    • 78649290177 scopus 로고    scopus 로고
    • Blood pressure, proteinuria and nephropathy in Fabry disease
    • 10.1159/000320903
    • Blood pressure, proteinuria and nephropathy in Fabry disease. Jain G, Warnock DG, Nephron Clin Pract 2011 118 43 48 10.1159/000320903
    • (2011) Nephron Clin Pract , vol.118 , pp. 43-48
    • Jain, G.1    Warnock, D.G.2
  • 52
    • 42949145418 scopus 로고    scopus 로고
    • Fabry disease: An underrecognized cause of proteinuria
    • DOI 10.1038/sj.ki.5002677, PII 5002677
    • Fabry disease: an underrecognized cause of proteinuria. Fervenza FC, Torra R, Lager DJ, Kidney Int 2008 73 1193 1199 10.1038/sj.ki.5002677 18033242 (Pubitemid 351620425)
    • (2008) Kidney International , vol.73 , Issue.10 , pp. 1193-1199
    • Fervenza, F.C.1    Torra, R.2    Lager, D.J.3
  • 53
    • 79956274761 scopus 로고    scopus 로고
    • Treatment of Fabry disease: Current and emerging strategies
    • 10.2174/138920111795542705 21235448
    • Treatment of Fabry disease: current and emerging strategies. Rozenfeld P, Neumann PM, Curr Pharm Biotechnol 2011 12 916 922 10.2174/138920111795542705 21235448
    • (2011) Curr Pharm Biotechnol , vol.12 , pp. 916-922
    • Rozenfeld, P.1    Neumann, P.M.2
  • 54
    • 33847050214 scopus 로고    scopus 로고
    • Clinical results of enzyme replacement therapy in Fabry disease: A comprehensive review of literature
    • 10.1111/j.1742-1241.2006.01237.x 17263716
    • Clinical results of enzyme replacement therapy in Fabry disease: a comprehensive review of literature. Lidove O, Joly D, Barbey F, Bekri S, Alexandra JF, Peigne V, Jaussaud R, Papo T, Int J Clin Pract 2007 61 293 302 10.1111/j.1742-1241.2006.01237.x 17263716
    • (2007) Int J Clin Pract , vol.61 , pp. 293-302
    • Lidove, O.1    Joly, D.2    Barbey, F.3    Bekri, S.4    Alexandra, J.F.5    Peigne, V.6    Jaussaud, R.7    Papo, T.8
  • 57
    • 68049129847 scopus 로고    scopus 로고
    • Natural course of Fabry disease: Changing pattern of causes of death in FOS - Fabry Outcome Survey
    • 10.1136/jmg.2008.065904 19473999
    • Natural course of Fabry disease: changing pattern of causes of death in FOS-Fabry Outcome Survey. Mehta A, Clarke JT, Giugliani R, Elliott P, Linhart A, Beck M, Sunder-Plassmann G, J Med Genet 2009 46 548 552 10.1136/jmg.2008.065904 19473999
    • (2009) J Med Genet , vol.46 , pp. 548-552
    • Mehta, A.1    Clarke, J.T.2    Giugliani, R.3    Elliott, P.4    Linhart, A.5    Beck, M.6    Sunder-Plassmann, G.7
  • 59
    • 77957225816 scopus 로고    scopus 로고
    • Age adjusting severity scores for Anderson-Fabry disease
    • 10.1016/j.ymgme.2010.06.002 20691627
    • Age adjusting severity scores for Anderson-Fabry disease. Hughes DA, Ramaswami U, Barba Romero MÃ Deegan P, Mol Genet Metab 2010 101 219 227 10.1016/j.ymgme.2010.06.002 20691627
    • (2010) Mol Genet Metab , vol.101 , pp. 219-227
    • Hughes, D.A.1    Ramaswami, U.2    Barba Romero, M.3    Deegan, P.4
  • 62
    • 84857082168 scopus 로고    scopus 로고
    • The effectiveness of long-term agalsidase alfa therapy in the treatment of Fabry nephropathy
    • 10.2215/CJN.03130411 22246281
    • The effectiveness of long-term agalsidase alfa therapy in the treatment of Fabry nephropathy. Feriozzi S, Torras J, Cybulla M, Nicholls K, Sunder-Plassmann G, West M, Clin J Am Soc Nephrol 2012 7 60 69 10.2215/CJN.03130411 22246281
    • (2012) Clin J Am Soc Nephrol , vol.7 , pp. 60-69
    • Feriozzi, S.1    Torras, J.2    Cybulla, M.3    Nicholls, K.4    Sunder-Plassmann, G.5    West, M.6
  • 64
    • 84867897920 scopus 로고    scopus 로고
    • Enzyme replacement therapy in patients with Fabry disease: State of the art and review of the literature
    • 10.1016/j.ymgme.2012.08.003 22963910
    • Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature. Pisani A, Visciano B, Roux GD, Sabbatini M, Porto C, Parenti G, Imbriaco M, Mol Genet Metab 2012 107 267 275 10.1016/j.ymgme.2012.08.003 22963910
    • (2012) Mol Genet Metab , vol.107 , pp. 267-275
    • Pisani, A.1    Visciano, B.2    Roux, G.D.3    Sabbatini, M.4    Porto, C.5    Parenti, G.6    Imbriaco, M.7
  • 65
    • 84875345645 scopus 로고    scopus 로고
    • Long term enzyme replacement therapy for Fabry disease: Effectiveness on kidney, heart and brain
    • 10.1186/1750-1172-8-47 23531228
    • Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain. Rombach SM, Smid BE, Bouwman MG, Linthorst GE, Dijkgraaf MG, Hollak CE, Orphanet J Rare Dis 2013 8 47 10.1186/1750-1172-8-47 23531228
    • (2013) Orphanet J Rare Dis , vol.8 , pp. 47
    • Rombach, S.M.1    Smid, B.E.2    Bouwman, M.G.3    Linthorst, G.E.4    Dijkgraaf, M.G.5    Hollak, C.E.6
  • 66
    • 84883742110 scopus 로고    scopus 로고
    • Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: Evidence for disease progression towards serious complications
    • 10.1111/joim.12077 23586858
    • Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications. Weidemann F, Niemann M, Störk S, Breunig F, Beer M, Sommer C, Herrmann S, Ertl G, Wanner C, J Intern Med 2013 274 331 341 10.1111/joim.12077 23586858
    • (2013) J Intern Med , vol.274 , pp. 331-341
    • Weidemann, F.1    Niemann, M.2    Störk, S.3    Breunig, F.4    Beer, M.5    Sommer, C.6    Herrmann, S.7    Ertl, G.8    Wanner, C.9
  • 67
    • 84904156358 scopus 로고    scopus 로고
    • Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: A systematic review and meta-analysis: Effectiveness of ERT in different disease stages
    • [Epub ahead of print]
    • Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages. Rombach SM, Smid BE, Linthorst GE, Dijkgraaf MG, Hollak CE, J Inherit Metab Dis 2014 [Epub ahead of print]
    • (2014) J Inherit Metab Dis
    • Rombach, S.M.1    Smid, B.E.2    Linthorst, G.E.3    Dijkgraaf, M.G.4    Hollak, C.E.5
  • 68
    • 71649111830 scopus 로고    scopus 로고
    • Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: An analysis of registry data
    • 10.1016/S0140-6736(09)61493-8 19959221
    • Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data. Mehta A, Beck M, Elliott P, Giugliani R, Linhart A, Sunder-Plassmann G, Schiffmann R, Barbey F, Ries M, Clarke JTR, Lancet 2009 374 1986 1996 10.1016/S0140-6736(09)61493-8 19959221
    • (2009) Lancet , vol.374 , pp. 1986-1996
    • Mehta, A.1    Beck, M.2    Elliott, P.3    Giugliani, R.4    Linhart, A.5    Sunder-Plassmann, G.6    Schiffmann, R.7    Barbey, F.8    Ries, M.9    Clarke, J.T.R.10
  • 69
    • 34248138939 scopus 로고    scopus 로고
    • Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing
    • DOI 10.1681/ASN.2006111263
    • Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing. Schiffmann R, Askari H, Timmons M, Robinson C, Benko W, Brady RO, Ries M, J Am Soc Nephrol 2007 18 1576 1583 10.1681/ASN.2006111263 17409308 (Pubitemid 46717525)
    • (2007) Journal of the American Society of Nephrology , vol.18 , Issue.5 , pp. 1576-1583
    • Schiffmann, R.1    Askari, H.2    Timmons, M.3    Robinson, C.4    Benko, W.5    Brady, R.O.6    Ries, M.7
  • 72
    • 33645528253 scopus 로고    scopus 로고
    • Clinical benefit of enzyme replacement therapy in Fabry disease
    • 10.1038/sj.ki.5000208 16609685
    • Clinical benefit of enzyme replacement therapy in Fabry disease. Breunig F, Weidemann F, Strotmann J, Knoll A, Wanner C, Kidney Int 2006 69 1216 1221 10.1038/sj.ki.5000208 16609685
    • (2006) Kidney Int , vol.69 , pp. 1216-1221
    • Breunig, F.1    Weidemann, F.2    Strotmann, J.3    Knoll, A.4    Wanner, C.5
  • 73
    • 84863455467 scopus 로고    scopus 로고
    • Fabry disease, enzyme replacement therapy and the significance of antibody responses
    • 10.1007/s10545-011-9400-y 22037707
    • Fabry disease, enzyme replacement therapy and the significance of antibody responses. Deegan PB, J Inherit Metab Dis 2012 35 227 243 10.1007/s10545-011-9400-y 22037707
    • (2012) J Inherit Metab Dis , vol.35 , pp. 227-243
    • Deegan, P.B.1
  • 76
    • 84891371385 scopus 로고    scopus 로고
    • A randomised, double-blind, placebo-controlled, crossover study to assess the efficacy and safety of three dosing schedules of agalsidase alfa enzyme replacement therapy for Fabry disease
    • 10.1016/j.ymgme.2013.04.015 23702393
    • A randomised, double-blind, placebo-controlled, crossover study to assess the efficacy and safety of three dosing schedules of agalsidase alfa enzyme replacement therapy for Fabry disease. Hughes DA, Deegan PB, Milligan A, Wright N, Butler LH, Jacobs A, Mehta AB, Mol Genet Metab 2013 109 269 275 10.1016/j.ymgme.2013.04.015 23702393
    • (2013) Mol Genet Metab , vol.109 , pp. 269-275
    • Hughes, D.A.1    Deegan, P.B.2    Milligan, A.3    Wright, N.4    Butler, L.H.5    Jacobs, A.6    Mehta, A.B.7
  • 77
    • 70349316414 scopus 로고    scopus 로고
    • Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease
    • 10.1097/GIM.0b013e3181981d82 19265719
    • Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease. Lubanda JC, Anijalg E, Bzduch V, Thurberg BL, Benichou B, Tylki-Szymanska A, Genet Med 2009 11 256 264 10.1097/GIM.0b013e3181981d82 19265719
    • (2009) Genet Med , vol.11 , pp. 256-264
    • Lubanda, J.C.1    Anijalg, E.2    Bzduch, V.3    Thurberg, B.L.4    Benichou, B.5    Tylki-Szymanska, A.6
  • 81
    • 84866106779 scopus 로고    scopus 로고
    • Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal)
    • 10.1038/gim.2012.39
    • Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal). Tsuboi K, Yamamoto H, Genet Med 2012 14 779 786 10.1038/gim.2012.39
    • (2012) Genet Med , vol.14 , pp. 779-786
    • Tsuboi, K.1    Yamamoto, H.2
  • 84
    • 34548474768 scopus 로고    scopus 로고
    • Antiproteinuric therapy and fabry nephropathy: Sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-β
    • DOI 10.1681/ASN.2006121400
    • Antiproteinuric therapy and fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta. Tahir H, Jackson LL, Warnock DG, J Am Soc Nephrol 2007 18 2609 2617 10.1681/ASN.2006121400 17656478 (Pubitemid 47378878)
    • (2007) Journal of the American Society of Nephrology , vol.18 , Issue.9 , pp. 2609-2617
    • Tahir, H.1    Jackson, L.L.2    Warnock, D.G.3
  • 90
    • 59649100878 scopus 로고    scopus 로고
    • Kidney transplant outcomes in patients with Fabry disease
    • 10.1097/TP.0b013e318191a842 19155985
    • Kidney transplant outcomes in patients with Fabry disease. Shah T, Gill J, Malhotra N, Takemoto SK, Bunnapradist S, Transplantation 2009 87 280 285 10.1097/TP.0b013e318191a842 19155985
    • (2009) Transplantation , vol.87 , pp. 280-285
    • Shah, T.1    Gill, J.2    Malhotra, N.3    Takemoto, S.K.4    Bunnapradist, S.5
  • 91
    • 84880089118 scopus 로고    scopus 로고
    • Kidney transplantation and enzyme replacement therapy in patients with Fabry disease
    • 10.5301/jn.5000214 23023720
    • Kidney transplantation and enzyme replacement therapy in patients with Fabry disease. Cybulla M, Kurschat C, West M, Nicholls K, Torras J, Sunder-Plassmann G, Feriozzi S, J Nephrol 2013 26 645 651 10.5301/jn.5000214 23023720
    • (2013) J Nephrol , vol.26 , pp. 645-651
    • Cybulla, M.1    Kurschat, C.2    West, M.3    Nicholls, K.4    Torras, J.5    Sunder-Plassmann, G.6    Feriozzi, S.7
  • 92
    • 34547830275 scopus 로고    scopus 로고
    • Safety and pharmacokinetics of agalsidase alfa in patients with Fabry disease and end-stage renal disease
    • DOI 10.1093/ndt/gfm096
    • Safety and pharmacokinetics of agalsidase alfa in patients with Fabry disease and end-stage renal disease. Pastores GM, Boyd E, Crandall K, Whelan A, Piersall L, Barnett N, Nephrol Dial Transplant 2007 22 1920 1925 10.1093/ndt/gfm096 17395657 (Pubitemid 47244761)
    • (2007) Nephrology Dialysis Transplantation , vol.22 , Issue.7 , pp. 1920-1925
    • Pastores, G.M.1    Boyd, E.2    Crandall, K.3    Whelan, A.4    Piersall, L.5    Barnett, N.6
  • 93
    • 4344671895 scopus 로고    scopus 로고
    • Enzyme replacement therapy administered during hemodialysis in patients with Fabry disease
    • DOI 10.1111/j.1523-1755.2004.00883.x
    • Enzyme replacement therapy administered during hemodialysis in patients with Fabry disease. Kosch M, Koch HG, Oliveira JP, Soares C, Bianco F, Breuning F, Rasmussen AK, Schaefer RM, Kidney Int 2004 66 1279 1282 10.1111/j.1523-1755. 2004.00883.x 15327428 (Pubitemid 39121039)
    • (2004) Kidney International , vol.66 , Issue.3 , pp. 1279-1282
    • Kosch, M.1    Koch, H.-G.2    Oliveira, J.P.3    Soares, C.4    Bianco, F.5    Breuning, F.6    Rasmussen, A.K.7    Schaefer, R.M.8
  • 94
    • 84896724822 scopus 로고    scopus 로고
    • Females and children with Anderson-Fabry disease: Diagnosis, monitoring, benefits of enzyme replacement therapy (ERT) and considerations on timing of starting ERT
    • 10.1517/21678707.2013.776957
    • Females and children with Anderson-Fabry disease: diagnosis, monitoring, benefits of enzyme replacement therapy (ERT) and considerations on timing of starting ERT. Parini R, Feriozzi S, Expert Opin Orphan Drugs 2013 1 315 330 10.1517/21678707.2013.776957
    • (2013) Expert Opin Orphan Drugs , vol.1 , pp. 315-330
    • Parini, R.1    Feriozzi, S.2
  • 95
    • 68049134975 scopus 로고    scopus 로고
    • A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease
    • 10.1097/GIM.0b013e3181a23bec 19346951
    • A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease. Whybra C, Miebach E, Mengel E, Gal A, Baron K, Beck M, Kampmann C, Genet Med 2009 11 441 449 10.1097/GIM.0b013e3181a23bec 19346951
    • (2009) Genet Med , vol.11 , pp. 441-449
    • Whybra, C.1    Miebach, E.2    Mengel, E.3    Gal, A.4    Baron, K.5    Beck, M.6    Kampmann, C.7
  • 96
  • 97
    • 84863301639 scopus 로고    scopus 로고
    • Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease
    • 10.1007/s10545-011-9424-3 22187137
    • Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease. Porto C, Pisani A, Rosa M, Acampora E, Avolio V, Tuzzi MR, Visciano B, Gagliardo C, Materazzi S, la Marca G, Andria G, Parenti G, J Inherit Metab Dis 2012 35 513 520 10.1007/s10545-011-9424-3 22187137
    • (2012) J Inherit Metab Dis , vol.35 , pp. 513-520
    • Porto, C.1    Pisani, A.2    Rosa, M.3    Acampora, E.4    Avolio, V.5    Tuzzi, M.R.6    Visciano, B.7    Gagliardo, C.8    Materazzi, S.9    La Marca, G.10    Andria, G.11    Parenti, G.12
  • 99
    • 77649212988 scopus 로고    scopus 로고
    • Anderson-Fabry disease: Developments in diagnosis and treatment
    • Anderson-Fabry disease: developments in diagnosis and treatment. Mehta AB, Int J Clin Pharmacol Ther 2009 47 Suppl 1 66 74
    • (2009) Int J Clin Pharmacol Ther , vol.47 , Issue.SUPPL. 1 , pp. 66-74
    • Mehta, A.B.1
  • 102
    • 84858712304 scopus 로고    scopus 로고
    • Urinary globotriaosylsphingosine-related biomarkers for Fabry disease targeted by metabolomics
    • 10.1021/ac203433e 22309310
    • Urinary globotriaosylsphingosine-related biomarkers for Fabry disease targeted by metabolomics. Auray-Blais C, Boutin M, Gagnon R, Dupont FO, Lavoie P, Clarke JTR, Anal Chem 2012 84 2745 2753 10.1021/ac203433e 22309310
    • (2012) Anal Chem , vol.84 , pp. 2745-2753
    • Auray-Blais, C.1    Boutin, M.2    Gagnon, R.3    Dupont, F.O.4    Lavoie, P.5    Clarke, J.T.R.6
  • 103
    • 84884996559 scopus 로고    scopus 로고
    • A metabolomic study to identify new globotriaosylceramide-related biomarkers in the plasma of Fabry disease patients
    • 10.1021/ac401542k 23968398
    • A metabolomic study to identify new globotriaosylceramide-related biomarkers in the plasma of Fabry disease patients. Manwaring V, Boutin M, Auray-Blais C, Anal Chem 2013 85 9039 9048 10.1021/ac401542k 23968398
    • (2013) Anal Chem , vol.85 , pp. 9039-9048
    • Manwaring, V.1    Boutin, M.2    Auray-Blais, C.3
  • 105
    • 50149103246 scopus 로고    scopus 로고
    • Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy
    • 10.1007/s10545-008-0900-3 18651238
    • Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy. Vylet'al P, Hulkova H, Zivna M, Berna L, Novak P, Elleder M, Kmoch S, J Inherit Metab Dis 2008 31 508 517 10.1007/s10545-008-0900-3 18651238
    • (2008) J Inherit Metab Dis , vol.31 , pp. 508-517
    • Vylet'Al, P.1    Hulkova, H.2    Zivna, M.3    Berna, L.4    Novak, P.5    Elleder, M.6    Kmoch, S.7
  • 107
    • 84877113572 scopus 로고    scopus 로고
    • The identification of new biomarkers for identifying and monitoring kidney disease and their translation into a rapid mass spectrometry-based test: Evidence of presymptomatic kidney disease in pediatric Fabry and type-I diabetic patients
    • 10.1021/pr301200e 23464927
    • The identification of new biomarkers for identifying and monitoring kidney disease and their translation into a rapid mass spectrometry-based test: evidence of presymptomatic kidney disease in pediatric Fabry and type-I diabetic patients. Manwaring V, Heywood WE, Clayton R, Lachmann RH, Keutzer J, Hindmarsh P, Winchester B, Heales S, Mills K, J Proteome Res 2013 12 2013 2021 10.1021/pr301200e 23464927
    • (2013) J Proteome Res , vol.12 , pp. 2013-2021
    • Manwaring, V.1    Heywood, W.E.2    Clayton, R.3    Lachmann, R.H.4    Keutzer, J.5    Hindmarsh, P.6    Winchester, B.7    Heales, S.8    Mills, K.9


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