메뉴 건너뛰기




Volumn 19, Issue 6, 2007, Pages 628-635

Enzyme reconstitution/replacement therapy for lysosomal storage diseases

Author keywords

Fabry disease; Gaucher disease; Glycosphingolipids; Lysosomes; Mucopolysaccharidoses; Pompe disease

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; ALGLUCERASE; ALPHA GALACTOSIDASE; ELAPRASE; GALSULFASE; GLUCAN 1,4 ALPHA GLUCOSIDASE; GLUCOSYLCERAMIDASE; IDURONATE 2 SULFATASE; IMIGLUCERASE; LARONIDASE; LEVO IDURONIDASE; N ACETYLGALACTOSAMINE 4 SULFATASE; RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE; UNCLASSIFIED DRUG;

EID: 36348943468     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/MOP.0b013e3282f161f2     Document Type: Review
Times cited : (57)

References (55)
  • 1
    • 0026637316 scopus 로고
    • Structure and function of the mannose 6-phosphate/insulin like growth factor II receptors
    • Kornfeld S. Structure and function of the mannose 6-phosphate/insulin like growth factor II receptors. Annu Rev Biochem 1992; 61:307-330.
    • (1992) Annu Rev Biochem , vol.61 , pp. 307-330
    • Kornfeld, S.1
  • 2
    • 0026572112 scopus 로고
    • Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease
    • Leinekugel P, Michel S, Conzelmann E, Sandhoff K. Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease. Hum Genet 1992; 88:513-523.
    • (1992) Hum Genet , vol.88 , pp. 513-523
    • Leinekugel, P.1    Michel, S.2    Conzelmann, E.3    Sandhoff, K.4
  • 3
    • 0000216808 scopus 로고    scopus 로고
    • Gaucher disease
    • Scriver CR, Beaudet AL, Sly WS, et al, editors, 8th ed. New York: McGraw-Hill;
    • Beutler E, Grabowski GA. Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, et al., editors. The metabolic and molecular bases of inherited diseases. 8th ed. New York: McGraw-Hill; 2001. pp. 3635-3668.
    • (2001) The metabolic and molecular bases of inherited diseases , pp. 3635-3668
    • Beutler, E.1    Grabowski, G.A.2
  • 4
    • 36348966078 scopus 로고    scopus 로고
    • Grabowski GA, Kolodny EH, Weinreb NJ, et al. Gaucher disease: phenotypic and genetic variation. In: Scriver CR, Beaudet AL, Sly WS, et al., editors. The online metabolic and molecular bases of inherited diseases [online]. New York: McGraw-Hill; 2006.; chapter 146.1. Available at http://genetics.accessmedicine.com.
    • Grabowski GA, Kolodny EH, Weinreb NJ, et al. Gaucher disease: phenotypic and genetic variation. In: Scriver CR, Beaudet AL, Sly WS, et al., editors. The online metabolic and molecular bases of inherited diseases [online]. New York: McGraw-Hill; 2006.; chapter 146.1. Available at http://genetics.accessmedicine.com.
  • 5
    • 0025869216 scopus 로고
    • Replacement therapy for inherited enzyme deficiency - macrophage-targeted glucocerebrosidase for Gaucher's disease
    • Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, et al. Replacement therapy for inherited enzyme deficiency - macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med 1991; 324:1464-1470.
    • (1991) N Engl J Med , vol.324 , pp. 1464-1470
    • Barton, N.W.1    Brady, R.O.2    Dambrosia, J.M.3    Di Bisceglie, A.M.4
  • 6
    • 0028883136 scopus 로고
    • Enzyme therapy in Gaucher disease type 1: Comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources
    • Grabowski GA, Barton NW, Pastores G, Banerjee TK, et al. Enzyme therapy in Gaucher disease type 1: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med 1995; 122:33-39.
    • (1995) Ann Intern Med , vol.122 , pp. 33-39
    • Grabowski, G.A.1    Barton, N.W.2    Pastores, G.3    Banerjee, T.K.4
  • 7
    • 4744370348 scopus 로고    scopus 로고
    • Therapeutic goals in the treatment of Gaucher disease
    • Pastores GM, Weinreb NJ, Aerts H, Andria G, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol 2004; 41 (4 Suppl 5):4-14.
    • (2004) Semin Hematol , vol.41 , Issue.4 SUPPL. 5 , pp. 4-14
    • Pastores, G.M.1    Weinreb, N.J.2    Aerts, H.3    Andria, G.4
  • 8
    • 33847274180 scopus 로고    scopus 로고
    • The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease
    • Charrow J, Dulisse B, Grabowski GA, Weinreb NJ. The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease. Clin Genet 2007; 71:205-211.
    • (2007) Clin Genet , vol.71 , pp. 205-211
    • Charrow, J.1    Dulisse, B.2    Grabowski, G.A.3    Weinreb, N.J.4
  • 9
    • 33845933154 scopus 로고    scopus 로고
    • Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease
    • Wenstrup RJ, Kacena KA, Kaplan P, Pastores GM, et al. Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease. J Bone Miner Res 2007; 22:119-126.
    • (2007) J Bone Miner Res , vol.22 , pp. 119-126
    • Wenstrup, R.J.1    Kacena, K.A.2    Kaplan, P.3    Pastores, G.M.4
  • 10
    • 0035149549 scopus 로고    scopus 로고
    • Enzyme replacement therapy in Fabry disease
    • discussion 11-12
    • Brady RO, Murray GJ, Moore DF, Schiffmann R. Enzyme replacement therapy in Fabry disease. J Inherit Metab Dis 2001; 24 (Suppl 2):18-24; discussion 11-12.
    • (2001) J Inherit Metab Dis , vol.24 , Issue.SUPPL. 2 , pp. 18-24
    • Brady, R.O.1    Murray, G.J.2    Moore, D.F.3    Schiffmann, R.4
  • 11
    • 2342524106 scopus 로고    scopus 로고
    • Fabry disease in childhood
    • Desnick RJ, Brady RO. Fabry disease in childhood. J Pediatr 2004; 144 (5 Suppl):S20-S26.
    • (2004) J Pediatr , vol.144 , Issue.5 SUPPL.
    • Desnick, R.J.1    Brady, R.O.2
  • 12
    • 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, et al. The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents. Eur J Pediatr 2003; 162:767-772.
    • (2003) Eur J Pediatr , vol.162 , pp. 767-772
    • Ries, M.1    Ramaswami, U.2    Parini, R.3    Lindblad, B.4
  • 13
    • 0031626770 scopus 로고    scopus 로고
    • Fetal pathology in Fabry's disease and mucopolysaccharidosis type I
    • Elleder M, Poupetova H, Kozich V. Fetal pathology in Fabry's disease and mucopolysaccharidosis type I. Cesk Patol 1998; 34:7-12.
    • (1998) Cesk Patol , vol.34 , pp. 7-12
    • Elleder, M.1    Poupetova, H.2    Kozich, V.3
  • 14
    • 33749067655 scopus 로고    scopus 로고
    • Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease
    • Ries M, Clarke JT, Whybra C, Timmons M, et al. Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics 2006; 118:924-932.
    • (2006) Pediatrics , vol.118 , pp. 924-932
    • Ries, M.1    Clarke, J.T.2    Whybra, C.3    Timmons, M.4
  • 16
    • 29944437554 scopus 로고    scopus 로고
    • Clinical manifestations of Fabry disease in children: Data from the Fabry Outcome Survey
    • Ramaswami U, Whybra C, Parini R, Pintos-Morell G, et al. Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr 2006; 95:86-92.
    • (2006) Acta Paediatr , vol.95 , pp. 86-92
    • Ramaswami, U.1    Whybra, C.2    Parini, R.3    Pintos-Morell, G.4
  • 17
    • 33847198320 scopus 로고    scopus 로고
    • Enzyme replacement therapy with agalsidase alfa in children with Fabry disease
    • Ramaswami U, Wendt S, Pintos-Morell G, Parini R, et al. Enzyme replacement therapy with agalsidase alfa in children with Fabry disease. Acta Paediatr 2007; 96:122-127.
    • (2007) Acta Paediatr , vol.96 , pp. 122-127
    • Ramaswami, U.1    Wendt, S.2    Pintos-Morell, G.3    Parini, R.4
  • 18
    • 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, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004; 34:236-242.
    • (2004) Eur J Clin Invest , vol.34 , pp. 236-242
    • Mehta, A.1    Ricci, R.2    Widmer, U.3    Dehout, F.4
  • 19
    • 33947687663 scopus 로고    scopus 로고
    • Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry
    • Eng CM, Fletcher J, Wilcox WR, Waldek S, et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis 2007; 30:184-192.
    • (2007) J Inherit Metab Dis , vol.30 , pp. 184-192
    • Eng, C.M.1    Fletcher, J.2    Wilcox, W.R.3    Waldek, S.4
  • 20
    • 33947575305 scopus 로고    scopus 로고
    • Gastrointestinal symptoms in Fabry disease: Everything is possible, including treatment
    • Hoffmann B, Keshav S. Gastrointestinal symptoms in Fabry disease: everything is possible, including treatment. Acta Paediatr Suppl 2007; 96:84-86.
    • (2007) Acta Paediatr Suppl , vol.96 , pp. 84-86
    • Hoffmann, B.1    Keshav, S.2
  • 21
    • 33846805931 scopus 로고    scopus 로고
    • Ocular manifestations of Fabry's disease: Data from the Fabry Outcome Survey
    • Sodi A, Ioannidis AS, Mehta A, Davey C, et al. Ocular manifestations of Fabry's disease: data from the Fabry Outcome Survey. Br J Ophthalmol 2007; 91:210-214.
    • (2007) Br J Ophthalmol , vol.91 , pp. 210-214
    • Sodi, A.1    Ioannidis, A.S.2    Mehta, A.3    Davey, C.4
  • 22
    • 0000889058 scopus 로고    scopus 로고
    • Galactosidase A deficiency: Fabry disease
    • Scriver CR, Beaudet AL, Sly WS, et al, editors, New York: McGraw-Hill;
    • Desnick RJ, Ioannou Y, Eng CM. Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, et al., editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001. pp. 3733-3774.
    • (2001) The metabolic and molecular bases of inherited disease , pp. 3733-3774
    • Desnick, R.J.1    Ioannou, Y.2    Eng, C.M.3
  • 23
    • 0035157764 scopus 로고    scopus 로고
    • Natural history of Fabry disease in affected males and obligate carrier females
    • discussion 1-2
    • MacDermot KD, Holmes A, Miners AH. Natural history of Fabry disease in affected males and obligate carrier females. J Inherit Metab Dis 2001; 24 (Suppl 2):13-14; discussion 1-2.
    • (2001) J Inherit Metab Dis , vol.24 , Issue.SUPPL. 2 , pp. 13-14
    • MacDermot, K.D.1    Holmes, A.2    Miners, A.H.3
  • 24
    • 33748746594 scopus 로고    scopus 로고
    • Fabry disease: Guidelines for the evaluation and management of multiorgan system involvement
    • Eng CM, Germain DP, Banikazemi M, Warnock DG, et al. Fabry disease: guidelines for the evaluation and management of multiorgan system involvement. Genet Med 2006; 8:539-548.
    • (2006) Genet Med , vol.8 , pp. 539-548
    • Eng, C.M.1    Germain, D.P.2    Banikazemi, M.3    Warnock, D.G.4
  • 25
    • 0344430257 scopus 로고    scopus 로고
    • Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium
    • Moon JC, Sachdev B, Elkington AG, McKenna WJ, et al. Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium. Eur Heart J 2003; 24:2151-2155.
    • (2003) Eur Heart J , vol.24 , pp. 2151-2155
    • Moon, J.C.1    Sachdev, B.2    Elkington, A.G.3    McKenna, W.J.4
  • 26
    • 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, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 2005; 366:1794-1796.
    • (2005) Lancet , vol.366 , pp. 1794-1796
    • Rolfs, A.1    Bottcher, T.2    Zschiesche, M.3    Morris, P.4
  • 27
    • 33846908304 scopus 로고    scopus 로고
    • Agalsidase-beta therapy for advanced Fabry disease: A randomized trial
    • Banikazemi M, Bultas J, Waldek S, Wilcox WR, et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 2007; 146:77-86.
    • (2007) Ann Intern Med , vol.146 , pp. 77-86
    • Banikazemi, M.1    Bultas, J.2    Waldek, S.3    Wilcox, W.R.4
  • 28
    • 33847327950 scopus 로고    scopus 로고
    • Proteomics of specific treatment-related alterations in Fabry disease: A strategy to identify biological abnormalities
    • Moore DF, Krokhin OV, Beavis RC, Ries M, et al. Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities. Proc Natl Acad Sci U S A 2007; 104:2873-2878.
    • (2007) Proc Natl Acad Sci U S A , vol.104 , pp. 2873-2878
    • Moore, D.F.1    Krokhin, O.V.2    Beavis, R.C.3    Ries, M.4
  • 29
    • 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; 85:255-259.
    • (2005) Mol Genet Metab , vol.85 , pp. 255-259
    • Banikazemi, M.1    Ullman, T.2    Desnick, R.J.3
  • 30
    • 33646830132 scopus 로고    scopus 로고
    • A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease
    • Kishnani PS, Hwu WL, Mandel H, Nicolino M, et al. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 2006; 148:671-676.
    • (2006) J Pediatr , vol.148 , pp. 671-676
    • Kishnani, P.S.1    Hwu, W.L.2    Mandel, H.3    Nicolino, M.4
  • 31
    • 23944445667 scopus 로고    scopus 로고
    • The natural course of nonclassic Pompe's disease; a review of 225 published cases
    • Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, et al. The natural course of nonclassic Pompe's disease; a review of 225 published cases. J Neurol 2005; 252:875-884.
    • (2005) J Neurol , vol.252 , pp. 875-884
    • Winkel, L.P.1    Hagemans, M.L.2    van Doorn, P.A.3    Loonen, M.C.4
  • 32
    • 15044356217 scopus 로고    scopus 로고
    • Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients
    • Hagemans ML, Winkel LP, Van Doorn PA, Hop WJ, et al. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain 2005; 128:671-677.
    • (2005) Brain , vol.128 , pp. 671-677
    • Hagemans, M.L.1    Winkel, L.P.2    Van Doorn, P.A.3    Hop, W.J.4
  • 33
    • 0032519686 scopus 로고    scopus 로고
    • Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail
    • Kikuchi T, Yang HW, Pennybacker M, Ichihara N, et al. Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail. J Clin Invest 1998; 101:827-833.
    • (1998) J Clin Invest , vol.101 , pp. 827-833
    • Kikuchi, T.1    Yang, H.W.2    Pennybacker, M.3    Ichihara, N.4
  • 34
    • 0036390045 scopus 로고    scopus 로고
    • Enzyme therapy for Pompe disease: From science to industrial enterprise
    • Reuser AJ, Van Den Hout H, Bijvoet AG, Kroos MA, et al. Enzyme therapy for Pompe disease: from science to industrial enterprise. Eur J Pediatr 2002; 161 (Suppl 1):S106-S111.
    • (2002) Eur J Pediatr , vol.161 , Issue.SUPPL. 1
    • Reuser, A.J.1    Van Den Hout, H.2    Bijvoet, A.G.3    Kroos, M.A.4
  • 35
    • 0035746540 scopus 로고    scopus 로고
    • Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial
    • Amalfitano A, Bengur AR, Morse RP, Majure JM, et al. Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet Med 2001; 3:132-138.
    • (2001) Genet Med , vol.3 , pp. 132-138
    • Amalfitano, A.1    Bengur, A.R.2    Morse, R.P.3    Majure, J.M.4
  • 36
    • 33746151202 scopus 로고    scopus 로고
    • Chinese hamster ovary cellderived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease
    • Kishnani PS, Nicolino M, Voit T, Rogers RC, et al. Chinese hamster ovary cellderived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr 2006; 149:89-97.
    • (2006) J Pediatr , vol.149 , pp. 89-97
    • Kishnani, P.S.1    Nicolino, M.2    Voit, T.3    Rogers, R.C.4
  • 37
    • 2942570942 scopus 로고    scopus 로고
    • Long-term intravenous treatment of Pompe disease with recombinant human alphaglucosidase from milk
    • Van den Hout JM, Kamphoven JH, Winkel LP, Arts WF, et al. Long-term intravenous treatment of Pompe disease with recombinant human alphaglucosidase from milk. Pediatrics 2004; 113:e448-e457.
    • (2004) Pediatrics , vol.113
    • Van den Hout, J.M.1    Kamphoven, J.H.2    Winkel, L.P.3    Arts, W.F.4
  • 38
    • 33846033132 scopus 로고    scopus 로고
    • Recombinant human acid α-glucosidase: Major clinical benefits in infantile-onset Pompe disease
    • Kishnani PS, Corzo D, Nicolino M, Byrne B, et al. Recombinant human acid α-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 2007; 68:99-109.
    • (2007) Neurology , vol.68 , pp. 99-109
    • Kishnani, P.S.1    Corzo, D.2    Nicolino, M.3    Byrne, B.4
  • 39
    • 2942548954 scopus 로고    scopus 로고
    • Anaesthetic management of infants with glycogen storage disease type II: A physiological approach
    • Ing RJ, Cook DR, Bengur RA, Williams EA, et al. Anaesthetic management of infants with glycogen storage disease type II: a physiological approach. Paediatr Anaesth 2004; 14:514-519.
    • (2004) Paediatr Anaesth , vol.14 , pp. 514-519
    • Ing, R.J.1    Cook, D.R.2    Bengur, R.A.3    Williams, E.A.4
  • 40
    • 33751014016 scopus 로고    scopus 로고
    • Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease
    • Fukuda T, Ahearn M, Roberts A, Mattaliano RJ, et al. Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease. Mol Ther 2006; 14:831-839.
    • (2006) Mol Ther , vol.14 , pp. 831-839
    • Fukuda, T.1    Ahearn, M.2    Roberts, A.3    Mattaliano, R.J.4
  • 41
    • 33751211826 scopus 로고    scopus 로고
    • Characterization of pre and posttreatment pathology after enzyme replacement therapy for Pompe disease
    • A histopathologic study of infantile Pompe disease in eight patients providing insight into cellular progression of disease and response to ERT
    • Thurberg BL, Lynch Maloney C, Vaccaro C, Afonso K, et al. Characterization of pre and posttreatment pathology after enzyme replacement therapy for Pompe disease. Lab Invest 2006; 86:1208-1220. A histopathologic study of infantile Pompe disease in eight patients providing insight into cellular progression of disease and response to ERT.
    • (2006) Lab Invest , vol.86 , pp. 1208-1220
    • Thurberg, B.L.1    Lynch Maloney, C.2    Vaccaro, C.3    Afonso, K.4
  • 42
    • 0031018301 scopus 로고    scopus 로고
    • Bone marrow transplantation for mucopolysaccharidosis type I: Experience of two British centres
    • Vellodi A, Young EP, Cooper A, Wraith JE, et al. Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres. Arch Dis Child 1997; 76:92-99.
    • (1997) Arch Dis Child , vol.76 , pp. 92-99
    • Vellodi, A.1    Young, E.P.2    Cooper, A.3    Wraith, J.E.4
  • 43
    • 0032055564 scopus 로고    scopus 로고
    • Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group
    • Peters C, Shapiro EG, Anderson J, Henslee-Downey PJ, et al. Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group. Blood 1998; 91:2601-2608.
    • (1998) Blood , vol.91 , pp. 2601-2608
    • Peters, C.1    Shapiro, E.G.2    Anderson, J.3    Henslee-Downey, P.J.4
  • 44
    • 0031926575 scopus 로고    scopus 로고
    • Follow-up of nine patients with Hurler syndrome after bone marrow transplantation
    • Guffon N, Souillet G, Maire I, Straczek J, et al. Follow-up of nine patients with Hurler syndrome after bone marrow transplantation. J Pediatr 1998; 133:119-125.
    • (1998) J Pediatr , vol.133 , pp. 119-125
    • Guffon, N.1    Souillet, G.2    Maire, I.3    Straczek, J.4
  • 45
    • 0041869127 scopus 로고    scopus 로고
    • Life-threatening pulmonary hemorrhages post bone marrow transplantation in Hurler syndrome. Report of three cases and review of the literature
    • Gassas A, Sung L, Doyle JJ, Clarke JT, et al. Life-threatening pulmonary hemorrhages post bone marrow transplantation in Hurler syndrome. Report of three cases and review of the literature. Bone Marrow Transplant 2003; 32:213-215.
    • (2003) Bone Marrow Transplant , vol.32 , pp. 213-215
    • Gassas, A.1    Sung, L.2    Doyle, J.J.3    Clarke, J.T.4
  • 46
    • 0035905889 scopus 로고    scopus 로고
    • Enzyme-replacement therapy in mucopolysaccharidosis I
    • Kakkis ED, Muenzer J, Tiller GE, Waber L, et al. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 2001; 344:182-188.
    • (2001) N Engl J Med , vol.344 , pp. 182-188
    • Kakkis, E.D.1    Muenzer, J.2    Tiller, G.E.3    Waber, L.4
  • 47
    • 2342666229 scopus 로고    scopus 로고
    • Enzyme replacement therapy for mucopolysaccharidosis I: A randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase)
    • Wraith JE, Clarke LA, Beck M, Kolodny EH, et al. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr 2004; 144:581-588.
    • (2004) J Pediatr , vol.144 , pp. 581-588
    • Wraith, J.E.1    Clarke, L.A.2    Beck, M.3    Kolodny, E.H.4
  • 48
    • 33846198829 scopus 로고    scopus 로고
    • Sifuentes M, Doroshow R, Hoft R, Mason G, et al. A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab 2007; 90:171-180. A study evaluating the long-term safety and efficacy of laronidase therapy in five patients after 6 years of therapy.
    • Sifuentes M, Doroshow R, Hoft R, Mason G, et al. A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab 2007; 90:171-180. A study evaluating the long-term safety and efficacy of laronidase therapy in five patients after 6 years of therapy.
  • 49
    • 0034183048 scopus 로고    scopus 로고
    • Hematopoietic cell transplantation for mucopolysaccharidosis IIB (Hunter syndrome)
    • Peters C, Krivit W. Hematopoietic cell transplantation for mucopolysaccharidosis IIB (Hunter syndrome). Bone Marrow Transplant 2000; 25:1097-1099.
    • (2000) Bone Marrow Transplant , vol.25 , pp. 1097-1099
    • Peters, C.1    Krivit, W.2
  • 50
    • 0036362937 scopus 로고    scopus 로고
    • Stem cell bone marrow transplantation in patients with metabolic storage diseases
    • Krivit W. Stem cell bone marrow transplantation in patients with metabolic storage diseases. Adv Pediatr 2002; 49:359-378.
    • (2002) Adv Pediatr , vol.49 , pp. 359-378
    • Krivit, W.1
  • 51
    • 33747209013 scopus 로고    scopus 로고
    • A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)
    • Muenzer J, Wraith JE, Beck M, Giugliani R, et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med 2006; 8:465-473.
    • (2006) Genet Med , vol.8 , pp. 465-473
    • Muenzer, J.1    Wraith, J.E.2    Beck, M.3    Giugliani, R.4
  • 52
    • 0021683336 scopus 로고
    • Bone-marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Biochemical and clinical status 24 months after transplantation
    • Krivit W, Pierpont ME, Ayaz K, Tsai M, et al. Bone-marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Biochemical and clinical status 24 months after transplantation. N Engl J Med 1984; 311:1606-1611.
    • (1984) N Engl J Med , vol.311 , pp. 1606-1611
    • Krivit, W.1    Pierpont, M.E.2    Ayaz, K.3    Tsai, M.4
  • 53
    • 0026540519 scopus 로고
    • Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Treatment by allogenic bone marrow transplantation in 6 patients and potential for autotransplantation bone marrow gene insertion
    • Krivit W. Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Treatment by allogenic bone marrow transplantation in 6 patients and potential for autotransplantation bone marrow gene insertion. Int Pediatr 1992; 7:47-52.
    • (1992) Int Pediatr , vol.7 , pp. 47-52
    • Krivit, W.1
  • 54
    • 34547682071 scopus 로고    scopus 로고
    • Management guidelines for mucopolysaccharidosis VI
    • Giugliani R, Harmatz P, Wraith JE. Management guidelines for mucopolysaccharidosis VI. Pediatrics 2007; 120:405-418.
    • (2007) Pediatrics , vol.120 , pp. 405-418
    • Giugliani, R.1    Harmatz, P.2    Wraith, J.E.3
  • 55
    • 33744978567 scopus 로고    scopus 로고
    • Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study
    • Harmatz P, Giugliani R, Schwartz I, Guffon N, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. J Pediatr 2006; 148:533-539.
    • (2006) J Pediatr , vol.148 , pp. 533-539
    • Harmatz, P.1    Giugliani, R.2    Schwartz, I.3    Guffon, N.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.