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Volumn 21, Issue SPEC. ISS. NOV., 2005, Pages 77-83

Enzyme replacement therapies for lysosomal storage disorders;Thérapies enzymatiques substitutives des maladies lysosomales

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLUCOSIDASE; CHAPERONE; DERMATAN SULFATE; GLYCOGEN; LARONIDASE; N ACETYLGALACTOSAMINE 4 SULFATASE;

EID: 29944443176     PISSN: 07670974     EISSN: None     Source Type: Journal    
DOI: 10.1051/medsci/20052111s77     Document Type: Conference Paper
Times cited : (8)

References (30)
  • 1
    • 73649187940 scopus 로고
    • Alpha-glucosidose deficiency in generalized glycogen storage disease (Pompe's disease)
    • Hers HG. Alpha-glucosidose deficiency in generalized glycogen storage disease (Pompe's disease). Biochem J 1963; 86: 11-6.
    • (1963) Biochem J , vol.86 , pp. 11-16
    • Hers, H.G.1
  • 2
    • 50549198437 scopus 로고
    • Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher's disease
    • Brady RO, Kanfer JN, Shapiro D. Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher's disease. Biochem Biophys Res Commun 1965; 18: 221-5.
    • (1965) Biochem Biophys Res Commun , vol.18 , pp. 221-225
    • Brady, R.O.1    Kanfer, J.N.2    Shapiro, D.3
  • 3
    • 0014939802 scopus 로고
    • Inborn errors of mucopolysaccharide metabolism
    • Neufeld EF, Fratantoni JC. Inborn errors of mucopolysaccharide metabolism. Science 1970; 169: 141-6.
    • (1970) Science , vol.169 , pp. 141-146
    • Neufeld, E.F.1    Fratantoni, J.C.2
  • 4
    • 0032910315 scopus 로고    scopus 로고
    • Gaucher's disease: A model for modern management of a genetic disease
    • Mistry PK. Gaucher's disease: a model for modern management of a genetic disease. J Hepatol 1999; 30 (suppl 1): 1-5.
    • (1999) J Hepatol , vol.30 , Issue.SUPPL. 1 , pp. 1-5
    • Mistry, P.K.1
  • 5
    • 1242318577 scopus 로고    scopus 로고
    • Gaucher's disease: A paradigm for interventional genetics
    • Germain DP. Gaucher's disease: a paradigm for interventional genetics. Clin Genet 2004; 65: 77-86
    • (2004) Clin Genet , vol.65 , pp. 77-86
    • Germain, D.P.1
  • 6
    • 0018868190 scopus 로고
    • Receptor-mediated pinocytosis of mannose glycoconjugates by macrophages: Characterization and evidence for receptor recycling
    • Stahl P, Schlesinger PH, Sigardson E, et al. Receptor-mediated pinocytosis of mannose glycoconjugates by macrophages: characterization and evidence for receptor recycling. Cell 1980; 19: 207-15.
    • (1980) Cell , vol.19 , pp. 207-215
    • Stahl, P.1    Schlesinger, P.H.2    Sigardson, E.3
  • 7
    • 0025236339 scopus 로고
    • Therapeutic response to intravenous infusions of glucacerebrosidase in a patient with Gaucher disease
    • Barton NW, Furbish FS, Murray GJ, et al. Therapeutic response to intravenous infusions of glucacerebrosidase in a patient with Gaucher disease. Proc Natl Acad Sci USA 1990; 87: 1913-6.
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 1913-1916
    • Barton, N.W.1    Furbish, F.S.2    Murray, G.J.3
  • 8
    • 0028883136 scopus 로고
    • Enzyme therapy in type 1 Gaucher disease: Comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources
    • Grabowski G, Barton NM, Pastores G, et al. Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med 1995; 122: 33-9.
    • (1995) Ann Intern Med , vol.122 , pp. 33-39
    • Grabowski, G.1    Barton, N.M.2    Pastores, G.3
  • 9
    • 4744370348 scopus 로고    scopus 로고
    • Therapeutic goals in the treatment of Gaucher disease
    • Pastores G, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol 2004; 41: 4-14.
    • (2004) Semin Hematol , vol.41 , pp. 4-14
    • Pastores, G.1    Weinreb, N.J.2    Aerts, H.3
  • 10
    • 4744358540 scopus 로고    scopus 로고
    • Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients
    • Weinreb NJ, Aggio MC, Andersson HC, et al. Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol 2004; 41: 15-22.
    • (2004) Semin Hematol , vol.41 , pp. 15-22
    • Weinreb, N.J.1    Aggio, M.C.2    Andersson, H.C.3
  • 11
    • 0029066515 scopus 로고
    • Individualised low-dose alglucerase therapy for type 1 Gaucher's disease
    • Hollak CM, Aerts J, Goudsmit R, et al. Individualised low-dose alglucerase therapy for type 1 Gaucher's disease. Lancet 1995; 345: 1474-8.
    • (1995) Lancet , vol.345 , pp. 1474-1478
    • Hollak, C.M.1    Aerts, J.2    Goudsmit, R.3
  • 12
    • 20944439209 scopus 로고    scopus 로고
    • Individualization of long-term enzyme replacement therapy for Gaucher disease
    • Andersson HC, Charron J, Kaplan P, et al. Individualization of long-term enzyme replacement therapy for Gaucher disease. Genet Med 2005; 7: 105-10.
    • (2005) Genet Med , vol.7 , pp. 105-110
    • Andersson, H.C.1    Charron, J.2    Kaplan, P.3
  • 13
    • 0034728914 scopus 로고    scopus 로고
    • Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis
    • Cox TM, Lachmann R, Hollak C, et al. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 2000; 355: 1481-5.
    • (2000) Lancet , vol.355 , pp. 1481-1485
    • Cox, T.M.1    Lachmann, R.2    Hollak, C.3
  • 14
    • 0015385593 scopus 로고
    • The defect in the Hurler and Scheie syndromes: Deficiency of -L-iduronidase
    • Bach G, Friedman R, Weissmann B, Neufeld EF. The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase. Proc Natl Acad Sci USA 1972; 69: 2048-51.
    • (1972) Proc Natl Acad Sci USA , vol.69 , pp. 2048-2051
    • Bach, G.1    Friedman, R.2    Weissmann, B.3    Neufeld, E.F.4
  • 15
    • 0031926575 scopus 로고    scopus 로고
    • Follow-up of nine patients with Hurler syndrome after bone marrow transplantation
    • Guffon N, Souillet G, Maire I, et al. Follow-up of nine patients with Hurler syndrome after bone marrow transplantation. J Pediatr 1998; 133: 119-25.
    • (1998) J Pediatr , vol.133 , pp. 119-125
    • Guffon, N.1    Souillet, G.2    Maire, I.3
  • 16
    • 2342666229 scopus 로고    scopus 로고
    • Enzyme replacement therapy for mucopalysaccharidasis I: A randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase)
    • Wraith JE, Clarke LA, Beck M, et al. Enzyme replacement therapy for mucopalysaccharidasis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr 2004; 144: 581-8.
    • (2004) J Pediatr , vol.144 , pp. 581-588
    • Wraith, J.E.1    Clarke, L.A.2    Beck, M.3
  • 17
    • 0035905889 scopus 로고    scopus 로고
    • Enzyme-replacement therapy in mucopolysaccharidosis I
    • Kakkis E, Muenzer J, Tiller GE, et al. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 2001; 344: 182-8.
    • (2001) N Engl J Med , vol.344 , pp. 182-188
    • Kakkis, E.1    Muenzer, J.2    Tiller, G.E.3
  • 18
    • 15944374314 scopus 로고    scopus 로고
    • Laronidase treatment of mucopolysaccharidosis I
    • Wraith JE, Hopwood J, Fuller M, et al. Laronidase treatment of mucopolysaccharidosis I. BioDrugs 2005; 19: 1-7.
    • (2005) BioDrugs , vol.19 , pp. 1-7
    • Wraith, J.E.1    Hopwood, J.2    Fuller, M.3
  • 19
    • 0029885020 scopus 로고    scopus 로고
    • Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients
    • Litjens T, Brooks DA, Peters C, et al. Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients. Am J Hum Genet 1996; 58: 1127-34.
    • (1996) Am J Hum Genet , vol.58 , pp. 1127-1134
    • Litjens, T.1    Brooks, D.A.2    Peters, C.3
  • 20
    • 0032988760 scopus 로고    scopus 로고
    • Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): Long-term follow-up
    • Herskhovitz E, Young E, Rainer J, et al. Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): long-term follow-up. J Inherit Metab Dis 1999; 22: 50-62.
    • (1999) J Inherit Metab Dis , vol.22 , pp. 50-62
    • Herskhovitz, E.1    Young, E.2    Rainer, J.3
  • 21
    • 1542669902 scopus 로고    scopus 로고
    • Enzyme replacement therapy in mucopolysaccharidasis VI (Maroteaux-Lamy syndrome)
    • Harmatz P, Chester B, Whitley CB, et al. Enzyme replacement therapy in mucopolysaccharidasis VI (Maroteaux-Lamy syndrome). J Pediatr 2004; 144: 574-80.
    • (2004) J Pediatr , vol.144 , pp. 574-580
    • Harmatz, P.1    Chester, B.2    Whitley, C.B.3
  • 22
    • 27744493202 scopus 로고    scopus 로고
    • Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): Results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase
    • Harmatz P, Ketteridge D, Giugliani R, et al. Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. Pediatrics 2005; 115: e681-9.
    • (2005) Pediatrics , vol.115
    • Harmatz, P.1    Ketteridge, D.2    Giugliani, R.3
  • 23
    • 29944440993 scopus 로고    scopus 로고
    • Galsulfase: Arylsulfatase B, BM 102, recombinant human arylsulfatase B, recombinant human N-acetylgalactosamine-4-sulfatase, rhASB
    • Galsulfase: arylsulfatase B, BM 102, recombinant human arylsulfatase B, recombinant human N-acetylgalactosamine-4-sulfatase, rhASB. Drugs RD 2005; 6: 312-5.
    • (2005) Drugs RD , vol.6 , pp. 312-315
  • 24
    • 0347093304 scopus 로고    scopus 로고
    • Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages: Implications for Niemann-Pick disease enzyme replacement therapy
    • Dhami GK, Babwah AV, Sterne-Marr R, Ferguson SS. Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages: implications for Niemann-Pick disease enzyme replacement therapy. J Biol Chem 2004; 279: 1526-32.
    • (2004) J Biol Chem , vol.279 , pp. 1526-1532
    • Dhami, G.K.1    Babwah, A.V.2    Sterne-Marr, R.3    Ferguson, S.S.4
  • 25
    • 2342537868 scopus 로고    scopus 로고
    • Pompe disease in infants and children
    • Kishnani PS, Howell RR. Pompe disease in infants and children. J Pediatr 2004; 144: S3S-43.
    • (2004) J Pediatr , vol.144
    • Kishnani, P.S.1    Howell, R.R.2
  • 26
    • 0034729963 scopus 로고    scopus 로고
    • Recombinant human alpha-glucosidase from rabbit milk in Pompe patients
    • Van den Haut H, Reuser AJJ, Vulto AG, et al. Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet 2000; 356: 397-8.
    • (2000) Lancet , vol.356 , pp. 397-398
    • Van Den Haut, H.1    Reuser, A.J.J.2    Vulto, A.G.3
  • 27
    • 15044345490 scopus 로고    scopus 로고
    • Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: Results of a phase II clinical trial
    • Klinge L, Straub U, Neudorf J, et al. Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial. Neuromuscul Disord 2005; 15: 24-31.
    • (2005) Neuromuscul Disord , vol.15 , pp. 24-31
    • Klinge, L.1    Straub, U.2    Neudorf, J.3
  • 28
    • 2942570942 scopus 로고    scopus 로고
    • Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk
    • Van den Hout JM, Kamphoven JH, Winkel LP, et al. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics 2004; 113: e448-57.
    • (2004) Pediatrics , vol.113
    • Van Den Hout, J.M.1    Kamphoven, J.H.2    Winkel, L.P.3
  • 29
    • 19944383100 scopus 로고    scopus 로고
    • Replacing acid alpha-glucosidase in Pompe disease: Recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers
    • Raben N, Fukuda T, Gilbert AL, et al. Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers. Mol Ther 2005; 11: 48-56.
    • (2005) Mol Ther , vol.11 , pp. 48-56
    • Raben, N.1    Fukuda, T.2    Gilbert, A.L.3
  • 30
    • 2942588994 scopus 로고    scopus 로고
    • Enzyme replacement and enhancement therapies for lysosomal diseases
    • Desnick RJ. Enzyme replacement and enhancement therapies for lysosomal diseases. J Inherit Metab Dis 2004; 27: 385-410.
    • (2004) J Inherit Metab Dis , vol.27 , pp. 385-410
    • Desnick, R.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.