메뉴 건너뛰기




Volumn 27, Issue 3, 2004, Pages 385-410

Enzyme replacement and enhancement therapies for lysosomal diseases

Author keywords

[No Author keywords available]

Indexed keywords

4 PHENYLBUTYRIC ACID; ADENOSINE DEAMINASE; AGALSIDASE ALFA; AGALSIDASE BETA; ALPHA 1 ANTITRYPSIN; ALPHA GALACTOSIDASE; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 9; CHAPERONE; DEOXYGALACTONOJIRIMYCIN; DEOXYRIBONUCLEASE; DIMETHYL SULFOXIDE; GALACTOSE; GLUCAN 1,4 ALPHA GLUCOSIDASE; GLUCOSYLCERAMIDASE; GLYCEROL; GROWTH HORMONE; IDURONATE 2 SULFATASE; LARONIDASE; LEVO IDURONIDASE; MUTANT PROTEIN; N ACETYLGALACTOSAMINE 4 SULFATASE; N OCTYL 4 EPI BETA VALIENAMINE; OPIATE; PANCREAS ENZYME; PLACEBO; RECEPTOR BLOCKING AGENT; RECOMBINANT ENZYME; RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE; TRIMETHYLAMINE OXIDE; UNCLASSIFIED DRUG; UNINDEXED DRUG; VINBLASTINE;

EID: 2942588994     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000031101.12838.c6     Document Type: Review
Times cited : (188)

References (114)
  • 1
    • 17044455396 scopus 로고    scopus 로고
    • Transglycosidase activity of chitotriosidase: Improved enzymatic assay for the human macrophage chitinase
    • Aguilera B, Ghauharali-van der Vlugt K, Helmond MT, et al (2003) Transglycosidase activity of chitotriosidase: improved enzymatic assay for the human macrophage chitinase. J Biol Chem 278: 40911-40916.
    • (2003) J. Biol. Chem. , vol.278 , pp. 40911-40916
    • Aguilera, B.1    Ghauharali-van der Vlugt, K.2    Helmond, M.T.3
  • 2
    • 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
    • Amaifitano A, Bengur AR, Morse RP, et al (2001) Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet Med 3: 132-138.
    • (2001) Genet. Med. , vol.3 , pp. 132-138
    • Amaifitano, A.1    Bengur, A.R.2    Morse, R.P.3
  • 3
    • 2942580461 scopus 로고    scopus 로고
    • CFTR and chaperones
    • Amaral MD (2004) CFTR and chaperones. J Mol Neurosci 23: 41-48.
    • (2004) J. Mol. Neurosci. , vol.23 , pp. 41-48
    • Amaral, M.D.1
  • 4
    • 0346727128 scopus 로고    scopus 로고
    • Therapeutic approaches to protein-misfolding disease
    • Cohen FE, Kelly JW (2003) Therapeutic approaches to protein-misfolding disease. Nature 426: 905-909.
    • (2003) Nature , vol.426 , pp. 905-909
    • Cohen, F.E.1    Kelly, J.W.2
  • 5
    • 0033936361 scopus 로고    scopus 로고
    • In vitro inhibition and intracellular enhancement of lysosomal α-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives
    • Asano N, Ishii S, Kizu H, et al (2000) In vitro inhibition and intracellular enhancement of lysosomal α-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives. Eur J Biochem 267: 4179-4186.
    • (2000) Eur. J. Biochem. , vol.267 , pp. 4179-4186
    • Asano, N.1    Ishii, S.2    Kizu, H.3
  • 6
    • 0025236339 scopus 로고
    • Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease
    • Barton NW, Furbish FS, Murray GJ, Garfield M, Brady RO (1990) Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Proc Natl Acad Sci USA 87: 1913-1916.
    • (1990) Proc. Natl. Acad. Sci. USA , vol.87 , pp. 1913-1916
    • Barton, N.W.1    Furbish, F.S.2    Murray, G.J.3    Garfield, M.4    Brady, R.O.5
  • 7
    • 0025869216 scopus 로고
    • Replacement therapy for inherited enzyme deficiency - Macrophage-targeted glucocerebrosidase for Gaucher's disease
    • Barton NW, Brady RO, Dambrosia JM, et al (1991) Replacement therapy for inherited enzyme deficiency - macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med 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
  • 9
    • 0032698194 scopus 로고    scopus 로고
    • Human acid α-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II
    • Bijvoet AG, Van Hirtum H, Kroos MA, et al (1999) Human acid α-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II. Hum Mol Genet 8: 2145-2153.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 2145-2153
    • Bijvoet, A.G.1    Van Hirtum, H.2    Kroos, M.A.3
  • 10
    • 0011811367 scopus 로고    scopus 로고
    • Effective enzyme replacement therapy of murine galactosialidosis using insect cell-expressed PPCA and neuraminidase
    • Bonten EJ, Toy JN, Mann L, et al (2002) Effective enzyme replacement therapy of murine galactosialidosis using insect cell-expressed PPCA and neuraminidase. Am J Hum Genet 71: 420.
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 420
    • Bonten, E.J.1    Toy, J.N.2    Mann, L.3
  • 11
    • 0343472797 scopus 로고
    • Enzyme replacement therapy for type 1 Gaucher disease
    • Desnick RJ, ed. New York: Churchill Livingstone
    • Brady RO, Barton NW (1991) Enzyme replacement therapy for type 1 Gaucher disease. In Desnick RJ, ed. Treatment of Genetic Diseases. New York: Churchill Livingstone, 153-168.
    • (1991) Treatment of Genetic Diseases , pp. 153-168
    • Brady, R.O.1    Barton, N.W.2
  • 12
    • 0016201884 scopus 로고
    • Replacement therapy for inherited enzyme deficiency: Use of purified glucocerebrosidase in Gaucher's disease
    • Brady RO, Pentchev PG, Gal AE, Hibbert SR, Dekaban AS (1974) Replacement therapy for inherited enzyme deficiency: use of purified glucocerebrosidase in Gaucher's disease. N Engl J Med 291: 989-993.
    • (1974) N. Engl. J. Med. , vol.291 , pp. 989-993
    • Brady, R.O.1    Pentchev, P.G.2    Gal, A.E.3    Hibbert, S.R.4    Dekaban, A.S.5
  • 14
    • 0030154620 scopus 로고    scopus 로고
    • Chemical chaperones correct the mutant phenotype of the ΔF508 cystic fibrosis transmembrane conductance regulator protein
    • Brown CR, Hong-Brown LQ, Biwersi J, Verkman AS, Welch WJ (1996) Chemical chaperones correct the mutant phenotype of the ΔF508 cystic fibrosis transmembrane conductance regulator protein. Cell Stress Chaperones 1: 117-125.
    • (1996) Cell Stress Chaperones , vol.1 , pp. 117-125
    • Brown, C.R.1    Hong-Brown, L.Q.2    Biwersi, J.3    Verkman, A.S.4    Welch, W.J.5
  • 16
    • 0034121656 scopus 로고    scopus 로고
    • Enzyme replacement therapy in a feline model of MPS VI: Modification of enzyme structure and dose frequency
    • Byers S, Crawley AC, Brumfield LK, Nuttall JD, Hopwood JJ (2000) Enzyme replacement therapy in a feline model of MPS VI: modification of enzyme structure and dose frequency. Pediatr Res 47: 743-749.
    • (2000) Pediatr. Res. , vol.47 , pp. 743-749
    • Byers, S.1    Crawley, A.C.2    Brumfield, L.K.3    Nuttall, J.D.4    Hopwood, J.J.5
  • 17
    • 0035478934 scopus 로고    scopus 로고
    • Dissecting glycoprotein quality control in the secretory pathway
    • Cabral CM, Liu Y, Sifers RN (2001) Dissecting glycoprotein quality control in the secretory pathway. Trends Biochem Sci 26: 619-624.
    • (2001) Trends Biochem. Sci. , vol.26 , pp. 619-624
    • Cabral, C.M.1    Liu, Y.2    Sifers, R.N.3
  • 18
    • 0016286842 scopus 로고
    • Sandhoff disease: Defective glycosaminoglycan catabolism in cultured fibroblasts and its correction by β-N-acetylhexosaminidase
    • Cantz M, Kresse H (1974) Sandhoff disease: defective glycosaminoglycan catabolism in cultured fibroblasts and its correction by β-N-acetylhexosaminidase. Eur J Biochem 47: 581-590.
    • (1974) Eur. J. Biochem. , vol.47 , pp. 581-590
    • Cantz, M.1    Kresse, H.2
  • 19
    • 0037011795 scopus 로고    scopus 로고
    • 1-Antitrypsin deficiency - A model for conformational diseases
    • 1-Antitrypsin deficiency - a model for conformational diseases. N Engl J Med 346: 45-53.
    • (2002) N. Engl. J. Med. , vol.346 , pp. 45-53
    • Carrell, R.W.1    Lomas, D.A.2
  • 20
    • 2942551979 scopus 로고    scopus 로고
    • Aldurazyme (iduronidase) enzyme replacement therapy for MPS I: 48-week extension data
    • Clarke LA, Wraith JE, Beck M, et al (2003) Aldurazyme (iduronidase) enzyme replacement therapy for MPS I: 48-week extension data. Am J Hum Genet 73: 623.
    • (2003) Am. J. Hum. Genet. , vol.73 , pp. 623
    • Clarke, L.A.1    Wraith, J.E.2    Beck, M.3
  • 21
    • 0346727128 scopus 로고    scopus 로고
    • Therapeutic approaches to protein-misfolding disease
    • Cohen FE, Kelly JW (2003) Therapeutic approaches to protein-misfolding disease. Nature 426: 905-909.
    • (2003) Nature , vol.426 , pp. 905-909
    • Cohen, F.E.1    Kelly, J.W.2
  • 22
    • 0000436145 scopus 로고
    • From cytases to lysosomes
    • de Duve C (1964) From cytases to lysosomes. Fed Proc 23: 1045.
    • (1964) Fed. Proc. , vol.23 , pp. 1045
    • de Duve, C.1
  • 23
    • 0037237933 scopus 로고    scopus 로고
    • Enzyme replacement therapy in Anderson-Fabry's disease: Beneficial clinical effect on vital organ function
    • De Schoenmakere G, Chauveau D, Grunfeld JP (2003) Enzyme replacement therapy in Anderson-Fabry's disease: beneficial clinical effect on vital organ function. Nephrol Dial Transplant 18: 33-35.
    • (2003) Nephrol. Dial. Transplant , vol.18 , pp. 33-35
    • De Schoenmakere, G.1    Chauveau, D.2    Grunfeld, J.P.3
  • 27
    • 0017260840 scopus 로고
    • Toward enzyme therapy for lysosomal storage diseases
    • Desnick RJ, Thorpe SR, Fiddler MB (1976) Toward enzyme therapy for lysosomal storage diseases. Physiol Rev 56: 57-99.
    • (1976) Physiol. Rev. , vol.56 , pp. 57-99
    • Desnick, R.J.1    Thorpe, S.R.2    Fiddler, M.B.3
  • 28
    • 0000889058 scopus 로고    scopus 로고
    • α-Galactosidase A deficiency: Fabry disease
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. 8th edn.; New York: McGraw-Hill
    • Desnic, RJ, Ioannou YA, Eng CM (2001) α-Galactosidase A deficiency: Fabry disease. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn.; New York: McGraw-Hill, 3733-3774.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3733-3774
    • Desnic, R.J.1    Ioannou, Y.A.2    Eng, C.M.3
  • 29
    • 0037452544 scopus 로고    scopus 로고
    • Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy
    • Desnick RJ, Brady R, Barranger J, et al (2003) Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138: 338-346.
    • (2003) Ann. Intern. Med. , vol.138 , pp. 338-346
    • Desnick, R.J.1    Brady, R.2    Barranger, J.3
  • 30
    • 0026510667 scopus 로고
    • Neuronal lysosomal enzyme replacement using fragment C of tetanus toxin
    • Dobrenis K, Joseph A, Rattazzi MC (1992) Neuronal lysosomal enzyme replacement using fragment C of tetanus toxin. Proc Natl Acad Sci USA 89: 2297-2301.
    • (1992) Proc. Natl. Acad. Sci. USA , vol.89 , pp. 2297-2301
    • Dobrenis, K.1    Joseph, A.2    Rattazzi, M.C.3
  • 31
    • 0019941616 scopus 로고
    • Enhanced macrophage uptake of synthetically glycosylated human placental beta-glucocerebrosidase
    • Doebber TW, Wu MS, Bugianesi RL, et al (1982) Enhanced macrophage uptake of synthetically glycosylated human placental beta-glucocerebrosidase. J Biol Chem 257: 2193-2199.
    • (1982) J. Biol. Chem. , vol.257 , pp. 2193-2199
    • Doebber, T.W.1    Wu, M.S.2    Bugianesi, R.L.3
  • 32
    • 0035423329 scopus 로고    scopus 로고
    • Enzyme therapy for lysosomal acid lipase deficiency in the mouse
    • Du H, Schiavi S, Levine M, et al (2001) Enzyme therapy for lysosomal acid lipase deficiency in the mouse. Hum Mol Genet 10: 1639-1648.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 1639-1648
    • Du, H.1    Schiavi, S.2    Levine, M.3
  • 33
    • 0033521072 scopus 로고    scopus 로고
    • Setting the standards: Quality control in the secretory pathway
    • Ellgaard L, Molinari M, Helenius A (1999) Setting the standards: quality control in the secretory pathway. Science 286: 1882-1888.
    • (1999) Science , vol.286 , pp. 1882-1888
    • Ellgaard, L.1    Molinari, M.2    Helenius, A.3
  • 34
    • 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 R, et al (2001a) A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 68: 711-722.
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 711-722
    • Eng, C.M.1    Banikazemi, M.2    Gordon, R.3
  • 35
    • 0035811624 scopus 로고    scopus 로고
    • Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease
    • Eng CM, Guffon N, Wilcox WR, et al (2001b) Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease. N Engl J Med 345: 9-16.
    • (2001) N. Engl. J. Med. , vol.345 , pp. 9-16
    • Eng, C.M.1    Guffon, N.2    Wilcox, W.R.3
  • 36
    • 0033018496 scopus 로고    scopus 로고
    • Accelerated transport and maturation of lysosomal α-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor
    • Fan JQ, Ishii S, Asano N, Suzuki Y (1999) Accelerated transport and maturation of lysosomal α-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. Nature Medicine 5: 112-115.
    • (1999) Nature Medicine , vol.5 , pp. 112-115
    • Fan, J.Q.1    Ishii, S.2    Asano, N.3    Suzuki, Y.4
  • 37
    • 0043235841 scopus 로고    scopus 로고
    • A contradictory treatment for lysosomal storage disorders: Inhibitors enhance mutant enzyme activity
    • Fan JQ (2003) A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity. Trends Pharmacol Sci 24: 355-360.
    • (2003) Trends Pharmacol. Sci. , vol.24 , pp. 355-360
    • Fan, J.Q.1
  • 39
    • 0019459217 scopus 로고
    • Enzyme manipulation by specific megavitamin therapy
    • Desnick RJ, ed. New York: Alan R. Liss
    • Fleischer LD, Gaull GE (1980) Enzyme manipulation by specific megavitamin therapy. In Desnick RJ, ed. Enzyme Therapy in Genetic Diseases: 2. New York: Alan R. Liss, 239-268.
    • (1980) Enzyme Therapy in Genetic Diseases: 2 , pp. 239-268
    • Fleischer, L.D.1    Gaull, G.E.2
  • 40
    • 0035811674 scopus 로고    scopus 로고
    • Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy
    • Frustaci A, Chimenti C, Ricci R, et al (2001) Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. N Engl J Med 345: 25-32.
    • (2001) N. Engl. J. Med. , vol.345 , pp. 25-32
    • Frustaci, A.1    Chimenti, C.2    Ricci, R.3
  • 41
    • 0019475525 scopus 로고
    • Uptake and distribution of placental glucocerebrosidase in rat hepatic cells and effects of sequential deglycosylation
    • Furbish FS, Steer CJ, Kreet NL, Barranger JA (1981) Uptake and distribution of placental glucocerebrosidase in rat hepatic cells and effects of sequential deglycosylation. Biochim Biophys Acta 673: 425-434.
    • (1981) Biochim. Biophys. Acta , vol.673 , pp. 425-434
    • Furbish, F.S.1    Steer, C.J.2    Kreet, N.L.3    Barranger, J.A.4
  • 42
    • 0036896021 scopus 로고    scopus 로고
    • Rescuing protein conformation: Prospects for pharmacological therapy in cystic fibrosis
    • Gelman MS, Kopito RR (2002) Rescuing protein conformation: prospects for pharmacological therapy in cystic fibrosis. J Clin Invest 110: 1591-1597.
    • (2002) J. Clin. Invest. , vol.110 , pp. 1591-1597
    • Gelman, M.S.1    Kopito, R.R.2
  • 44
    • 0028883136 scopus 로고
    • Enzyme therapy in type 1 Gaucher disease: Comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources
    • Grabowski GA, Barton NW, Pastores G, et al (1995) Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med 122: 33-39.
    • (1995) Ann. Intern. Med. , vol.122 , pp. 33-39
    • Grabowski, G.A.1    Barton, N.W.2    Pastores, G.3
  • 45
    • 0031868229 scopus 로고    scopus 로고
    • Enzyme therapy for Gaucher disease: The first 5 years
    • Grabowski GA, Leslie N, Wenstrup R (1998) Enzyme therapy for Gaucher disease: the first 5 years. Blood Rev 12: 115-133.
    • (1998) Blood Rev. , vol.12 , pp. 115-133
    • Grabowski, G.A.1    Leslie, N.2    Wenstrup, R.3
  • 46
    • 2942560790 scopus 로고    scopus 로고
    • Clinical benefit in Fabry patients given enzyme replacement therapy - A case series
    • in press
    • Guffon N, Fouilhoux A (2004) Clinical benefit in Fabry patients given enzyme replacement therapy - a case series. J Inherit Metab Dis, in press.
    • (2004) J. Inherit. Metab. Dis.
    • Guffon, N.1    Fouilhoux, A.2
  • 47
    • 0011881367 scopus 로고    scopus 로고
    • A Phase I/II study of enzyme replacement therapy (ERT) for mucopolysaccharidosis VI (MPS VI; Maroteaux-Lamy syndrome): 48 week progress report
    • Harmatz P, Whitley CB, Waber L, et al (2002) A Phase I/II study of enzyme replacement therapy (ERT) for mucopolysaccharidosis VI (MPS VI; Maroteaux-Lamy syndrome): 48 week progress report. Am J Hum Genet 71: 582.
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 582
    • Harmatz, P.1    Whitley, C.B.2    Waber, L.3
  • 48
    • 2942582068 scopus 로고    scopus 로고
    • A phase II open-label clinical study of efficacy and safety of recominant human N-acetylgalactosamine 4-sulfatase (rhASB) enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy sydrome)
    • Harmatz P, Ketteridge D, Steiner R, et al (2003) A phase II open-label clinical study of efficacy and safety of recominant human N-acetylgalactosamine 4-sulfatase (rhASB) enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy sydrome). Am J Hum Genet 73: 623.
    • (2003) Am. J. Hum. Genet. , vol.73 , pp. 623
    • Harmatz, P.1    Ketteridge, D.2    Steiner, R.3
  • 49
    • 1542669902 scopus 로고    scopus 로고
    • Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
    • Harmatz P, Whitley CB, Waber L, et al (2004) Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr 144: 574-580.
    • (2004) J. Pediatr. , vol.144 , pp. 574-580
    • Harmatz, P.1    Whitley, C.B.2    Waber, L.3
  • 50
    • 0028220472 scopus 로고
    • Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease
    • Hollak CE, van Weely S, van Oers MH, Aerts JM (1994) Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest 93: 1288-1292.
    • (1994) J. Clin. Invest. , vol.93 , pp. 1288-1292
    • Hollak, C.E.1    van Weely, S.2    van Oers, M.H.3    Aerts, J.M.4
  • 51
    • 0026497446 scopus 로고
    • Overexpression of human α-galactosidase A results in its intracellular aggregation, crystallization in lysosomes and selective secretion
    • Ioannou YA, Bishop DF, Desnick RJ (1992) Overexpression of human α-galactosidase A results in its intracellular aggregation, crystallization in lysosomes and selective secretion. J Cell Biol 119: 1137-1150.
    • (1992) J. Cell Biol. , vol.119 , pp. 1137-1150
    • Ioannou, Y.A.1    Bishop, D.F.2    Desnick, R.J.3
  • 52
    • 0035163539 scopus 로고    scopus 로고
    • Fabry disease: Preclinical studies demonstrate the effectiveness of α-galactosidase A replacement in enzyme-deficient mice
    • Ioannou YA, Zeidner KM, Gordon RE, Desnick RJ (2001) Fabry disease: preclinical studies demonstrate the effectiveness of α-galactosidase A replacement in enzyme-deficient mice. Am J Hum Genet 68: 14-25.
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 14-25
    • Ioannou, Y.A.1    Zeidner, K.M.2    Gordon, R.E.3    Desnick, R.J.4
  • 53
    • 0015599150 scopus 로고
    • Intravenous injection of purified hexosaminidase A into a patient with Tay-Sachs disease
    • Desnick RJ, Bernlohr RW, Krivit W, eds. New York: The National Foundation
    • Johnson WG, Desnick RJ, Long DM, et al (1973) Intravenous injection of purified hexosaminidase A into a patient with Tay-Sachs disease. In Desnick RJ, Bernlohr RW, Krivit W, eds. Enzyme Therapy in Genetic Diseases, Birth Defects. Original Article Series. New York: The National Foundation, 120-124.
    • (1973) Enzyme Therapy in Genetic Diseases, Birth Defects. Original Article Series , pp. 120-124
    • Johnson, W.G.1    Desnick, R.J.2    Long, D.M.3
  • 54
    • 0030221033 scopus 로고    scopus 로고
    • Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I
    • Kakkis ED, McEntee MF, Schmidtchen A, et al (1996) Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I. Biochem Mol Med 58: 156-167.
    • (1996) Biochem. Mol. Med. , vol.58 , pp. 156-167
    • Kakkis, E.D.1    McEntee, M.F.2    Schmidtchen, A.3
  • 55
    • 0002277647 scopus 로고    scopus 로고
    • Recombinant α-L-iduronidase replacement therapy in mucopolysaccharidosis I: Results of a human clinical trial
    • Kakkis E, Muenzer J, Tiller G, et al (1998) Recombinant α-L-iduronidase replacement therapy in mucopolysaccharidosis I: results of a human clinical trial. Am J Hum Genet 63 (supplement): A25.
    • (1998) Am. J. Hum. Genet. , vol.63 , Issue.SUPPL.
    • Kakkis, E.1    Muenzer, J.2    Tiller, G.3
  • 56
    • 0035905889 scopus 로고    scopus 로고
    • Enzyme-replacement therapy in mucopolysaccharidosis I
    • Kakkis ED, Muenzer J, Tiller GE, et al (2001) Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 344: 182-188.
    • (2001) N. Engl. J. Med. , vol.344 , pp. 182-188
    • Kakkis, E.D.1    Muenzer, J.2    Tiller, G.E.3
  • 57
    • 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, et al (1998) Clinical and metabolic correction of Pompe disease by enzyme therapy in acid maltase-deficient quail. J Clin Invest 101: 827-833.
    • (1998) J. Clin. Invest. , vol.101 , pp. 827-833
    • Kikuchi, T.1    Yang, H.W.2    Pennybacker, M.3
  • 58
    • 0011851966 scopus 로고    scopus 로고
    • Treatment of classical infantile Pompe disease (CIPD) with recombinant human acid α-glucosidase (rhGAA): Preliminary 6 month data from a Phase 2 study
    • Kishnani P, Voit T, Nicolino M, et al (2002) Treatment of classical infantile Pompe disease (CIPD) with recombinant human acid α-glucosidase (rhGAA): preliminary 6 month data from a Phase 2 study. Am J Hum Genet 71: 582.
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 582
    • Kishnani, P.1    Voit, T.2    Nicolino, M.3
  • 59
    • 0025365591 scopus 로고
    • Lysosomal enzyme targeting
    • Kornfeld S (1990) Lysosomal enzyme targeting. Biochem Soc Trans 18: 367-374.
    • (1990) Biochem. Soc. Trans. , vol.18 , pp. 367-374
    • Kornfeld, S.1
  • 60
    • 0013192938 scopus 로고    scopus 로고
    • A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease
    • Lee K, Jin X, Zhang K, et al (2003) A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease. Glycobiology 13: 305-313.
    • (2003) Glycobiology , vol.13 , pp. 305-313
    • Lee, K.1    Jin, X.2    Zhang, K.3
  • 62
    • 0031021804 scopus 로고    scopus 로고
    • Correction of defective protein kinesis of human P-glycoprotein mutants by substrates and modulators
    • Loo TW, Clarke DM (1997) Correction of defective protein kinesis of human P-glycoprotein mutants by substrates and modulators. J Biol Chem 272: 709-712.
    • (1997) J. Biol. Chem. , vol.272 , pp. 709-712
    • Loo, T.W.1    Clarke, D.M.2
  • 63
    • 3242800983 scopus 로고    scopus 로고
    • Chemical chaperone therapy for brain pathology in GM1-gangliosidosis
    • Matsuda J, Suzuki O, Oshima A, et al (2003) Chemical chaperone therapy for brain pathology in GM1-gangliosidosis. Proc Natl Acad Sci USA 100: 15912-15917.
    • (2003) Proc. Natl. Acad. Sci. USA , vol.100 , pp. 15912-15917
    • Matsuda, J.1    Suzuki, O.2    Oshima, A.3
  • 64
    • 0033810516 scopus 로고    scopus 로고
    • Infusion of recombinant human acid sphingomyelinase into Niemann-Pick disease mice leads to visceral, but not neurological, correction of the pathophysiology
    • Miranda SR, He X, Simonaro CM, et al (2000) Infusion of recombinant human acid sphingomyelinase into Niemann-Pick disease mice leads to visceral, but not neurological, correction of the pathophysiology. FASEB J 14: 1988-1995.
    • (2000) FASEB J. , vol.14 , pp. 1988-1995
    • Miranda, S.R.1    He, X.2    Simonaro, C.M.3
  • 65
    • 0037470410 scopus 로고    scopus 로고
    • Role of EDEM in the release of misfolded glycoproteins from the calnexin cycle
    • Molinari M, Calanca V, Galli C, Lucca P, Paganetti P (2003) Role of EDEM in the release of misfolded glycoproteins from the calnexin cycle. Science 299: 1397-1400.
    • (2003) Science , vol.299 , pp. 1397-1400
    • Molinari, M.1    Calanca, V.2    Galli, C.3    Lucca, P.4    Paganetti, P.5
  • 68
    • 0011892927 scopus 로고    scopus 로고
    • A Phase I/II clinical study evaluating the safety and clinical activity of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome)
    • Muenzer J, Towle D, Calikoglu M, McCandlless S (2002) A Phase I/II clinical study evaluating the safety and clinical activity of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome). Am J Hum Genet 71: 582.
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 582
    • Muenzer, J.1    Towle, D.2    Calikoglu, M.3    McCandlless, S.4
  • 69
    • 2942605577 scopus 로고    scopus 로고
    • The one year experience of enzyme replacement therapy for mucopolysaccharidosis II (Hunter syndrome)
    • Muenzer J, Calikoglu M, Towle D, McCandlless S, Kimura A (2003) The one year experience of enzyme replacement therapy for mucopolysaccharidosis II (Hunter syndrome). Am J Hum Genet 73: 623.
    • (2003) Am. J. Hum. Genet. , vol.73 , pp. 623
    • Muenzer, J.1    Calikoglu, M.2    Towle, D.3    McCandlless, S.4    Kimura, A.5
  • 70
    • 0029023150 scopus 로고
    • An atypical variant of Fabry's disease in men with left ventricular hypertrophy
    • Nakao S, Takenaka, T, Maeda M, et al (1995) An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 333: 288-293.
    • (1995) N. Engl. J. Med. , vol.333 , pp. 288-293
    • Nakao, S.1    Takenaka, T.2    Maeda, M.3
  • 71
    • 0015794917 scopus 로고
    • Sanfilippo disease type B: Enzyme replacement and metabolic correction in cultured fibroblasts
    • O'Brien JS, Miller AL, Loverde AW, Veath ML (1973) Sanfilippo disease type B: enzyme replacement and metabolic correction in cultured fibroblasts. Science 181: 753-755.
    • (1973) Science , vol.181 , pp. 753-755
    • O'Brien, J.S.1    Miller, A.L.2    Loverde, A.W.3    Veath, M.L.4
  • 72
    • 0037470515 scopus 로고    scopus 로고
    • EDEM as an acceptor of terminally misfolded glycoproteins released from calnexin
    • Oda Y, Hosokawa N, Wada I, Nagata K (2003) EDEM as an acceptor of terminally misfolded glycoproteins released from calnexin. Science 299: 1394-1397.
    • (2003) Science , vol.299 , pp. 1394-1397
    • Oda, Y.1    Hosokawa, N.2    Wada, I.3    Nagata, K.4
  • 73
    • 0028879273 scopus 로고
    • Galactose stabilizes various missense mutants of α-galactosidase in Fabry disease
    • Okumiya T, Ishii S, Takenaka T, et al (1995) Galactose stabilizes various missense mutants of α-galactosidase in Fabry disease. Biochem Biophys Res Commun 214: 1219-1224.
    • (1995) Biochem. Biophys. Res. Commun. , vol.214 , pp. 1219-1224
    • Okumiya, T.1    Ishii, S.2    Takenaka, T.3
  • 74
    • 0027218354 scopus 로고
    • Enzyme therapy in Gaucher disease type I: Dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months
    • Pastores GM, Sibille AR, Grabowski GA (1993) Enzyme therapy in Gaucher disease type I: dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months. Blood 82: 408-416.
    • (1993) Blood , vol.82 , pp. 408-416
    • Pastores, G.M.1    Sibille, A.R.2    Grabowski, G.A.3
  • 75
    • 0037007201 scopus 로고    scopus 로고
    • Ligands act as pharmacological chaperones and increase the efficiency of delta opioid receptor maturation
    • Petaja-Repo UE, Hogue M, Bhalla S, et al (2002) Ligands act as pharmacological chaperones and increase the efficiency of delta opioid receptor maturation. EMBO J 21: 1628-1637.
    • (2002) EMBO J. , vol.21 , pp. 1628-1637
    • Petaja-Repo, U.E.1    Hogue, M.2    Bhalla, S.3
  • 76
    • 0015231036 scopus 로고
    • Correction of abnormal cerebroside sulfate metabolism in cultured metachromatic leukodystrophy fibroblasts
    • Porter MT, Fluharty AL, Kihara H (1971) Correction of abnormal cerebroside sulfate metabolism in cultured metachromatic leukodystrophy fibroblasts. Science 172: 1263-1265.
    • (1971) Science , vol.172 , pp. 1263-1265
    • Porter, M.T.1    Fluharty, A.L.2    Kihara, H.3
  • 77
    • 0037027950 scopus 로고    scopus 로고
    • Therapeutic approaches to repair defects in deltaF508 CFTR folding and cellular targeting
    • Powell K, Zeitlin PL (2002) Therapeutic approaches to repair defects in deltaF508 CFTR folding and cellular targeting. Adv Drug Deliv Rev 54: 1395-1408.
    • (2002) Adv. Drug Deliv. Rev. , vol.54 , pp. 1395-1408
    • Powell, K.1    Zeitlin, P.L.2
  • 78
    • 0037342270 scopus 로고    scopus 로고
    • Quantitating protein synthesis, degradation, and endogenous antigen processing
    • Princiotta ME, Finzi D, Qian SB, et al (2003) Quantitating protein synthesis, degradation, and endogenous antigen processing. Immunity 18: 343-354.
    • (2003) Immunity , vol.18 , pp. 343-354
    • Princiotta, M.E.1    Finzi, D.2    Qian, S.B.3
  • 79
    • 0011903875 scopus 로고
    • Enzyme replacement: Overview and prospects
    • Desnick RJ, ed. New York: Churchill Livingstone
    • Rattazzi MC, Dobrenis K (1991) Enzyme replacement: overview and prospects. In Desnick RJ, ed. Treatment of Genetic Diseases. New York: Churchill Livingstone, 131-152.
    • (1991) Treatment of Genetic Diseases , pp. 131-152
    • Rattazzi, M.C.1    Dobrenis, K.2
  • 80
    • 0027216474 scopus 로고
    • Antibody response in patients with Gaucher disease after repeated infusion with macrophage-targeted glucocerebrosidase
    • Richards SM, Olson TA, McPherson JM (1993) Antibody response in patients with Gaucher disease after repeated infusion with macrophage-targeted glucocerebrosidase. Blood 82: 1402-1409.
    • (1993) Blood , vol.82 , pp. 1402-1409
    • Richards, S.M.1    Olson, T.A.2    McPherson, J.M.3
  • 81
    • 0033559287 scopus 로고    scopus 로고
    • Immunosurveillance of alglucerase enzyme therapy for Gaucher patients: Induction of humoral tolerance in seroconverted patients after repeat administration
    • Rosenberg M, Kingma W, Fitzpatrick MA, Richards SM (1999) Immunosurveillance of alglucerase enzyme therapy for Gaucher patients: induction of humoral tolerance in seroconverted patients after repeat administration. Blood 93: 2081-2088.
    • (1999) Blood , vol.93 , pp. 2081-2088
    • Rosenberg, M.1    Kingma, W.2    Fitzpatrick, M.A.3    Richards, S.M.4
  • 82
    • 0030809817 scopus 로고    scopus 로고
    • In vitro pharmacologic restoration of CFTR-mediated chloride transport with sodium 4-phenylbutyrate in cystic fibrosis epithelial cells containing deltaF508-CFTR
    • Rubenstein RC, Egan ME, Zeitlin PL (1997) In vitro pharmacologic restoration of CFTR-mediated chloride transport with sodium 4-phenylbutyrate in cystic fibrosis epithelial cells containing deltaF508-CFTR. J Clin Invest 100: 2457-2465.
    • (1997) J. Clin. Invest. , vol.100 , pp. 2457-2465
    • Rubenstein, R.C.1    Egan, M.E.2    Zeitlin, P.L.3
  • 83
    • 4444228872 scopus 로고    scopus 로고
    • The biogenesis of membranes and organelles
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. 8th edn. New York: McGraw-Hill
    • Sabatini DD, Adesnik MB (2001) The biogenesis of membranes and organelles. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 475-484.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 475-484
    • Sabatini, D.D.1    Adesnik, M.B.2
  • 84
    • 0035900762 scopus 로고    scopus 로고
    • Biodistribution, kinetics, and efficacy of highly phosphorylated and non-phosphorylated beta-glucuronidase in the murine model of mucopolysaccharidosis VII
    • Sands MS, Vogler CA, Ohlemiller KK, et al (2001) Biodistribution, kinetics, and efficacy of highly phosphorylated and non-phosphorylated beta-glucuronidase in the murine model of mucopolysaccharidosis VII. J Biol Chem 276: 43160-43165.
    • (2001) J. Biol. Chem. , vol.276 , pp. 43160-43165
    • Sands, M.S.1    Vogler, C.A.2    Ohlemiller, K.K.3
  • 85
    • 0030042386 scopus 로고    scopus 로고
    • Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation
    • Sato S, Ward CL, Krouse ME, Wine JJ, Kopito RR (1996) Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation. J Biol Chem 271: 635-638.
    • (1996) J. Biol. Chem. , vol.271 , pp. 635-638
    • Sato, S.1    Ward, C.L.2    Krouse, M.E.3    Wine, J.J.4    Kopito, R.R.5
  • 86
    • 0037180511 scopus 로고    scopus 로고
    • Chemical chaperones increase the cellular activity of N370S beta-glucosidase: A therapeutic strategy for Gaucher disease
    • Sawkar AR, Cheng WC, Beutler F, et al (2002) Chemical chaperones increase the cellular activity of N370S beta-glucosidase: a therapeutic strategy for Gaucher disease. Proc Natl Acad Sci USA 99: 15428-15433.
    • (2002) Proc. Natl. Acad. Sci. USA , vol.99 , pp. 15428-15433
    • Sawkar, A.R.1    Cheng, W.C.2    Beutler, F.3
  • 87
    • 12944265457 scopus 로고    scopus 로고
    • Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease
    • Schiffmann R, Murray GJ, Treco D, et al (2000) Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci USA 97: 365-370.
    • (2000) Proc. Natl. Acad. Sci. USA , vol.97 , pp. 365-370
    • Schiffmann, R.1    Murray, G.J.2    Treco, D.3
  • 88
    • 0035816007 scopus 로고    scopus 로고
    • Enzyme replacement therapy in Fabry disease: A randomized controlled trial
    • Schiffmann R, Kopp JB, Austin HA 3rd, et al (2001) Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 285: 2743-2749.
    • (2001) JAMA , vol.285 , pp. 2743-2749
    • Schiffmann, R.1    Kopp, J.B.2    Austin III, H.A.3
  • 89
    • 0034643336 scopus 로고    scopus 로고
    • Rapid degradation of a large fraction of newly synthesized proteins by proteasomes
    • Schubert U, Anton LC, Gibbs J, et al (2000) Rapid degradation of a large fraction of newly synthesized proteins by proteasomes. Nature 404: 770-774.
    • (2000) Nature , vol.404 , pp. 770-774
    • Schubert, U.1    Anton, L.C.2    Gibbs, J.3
  • 92
    • 0037077040 scopus 로고    scopus 로고
    • Toxic proteins in neurodegenerative disease
    • Taylor JP, Hardy J, Fischbeck KH (2002) Toxic proteins in neurodegenerative disease. Science 296: 1991-1995.
    • (2002) Science , vol.296 , pp. 1991-1995
    • Taylor, J.P.1    Hardy, J.2    Fischbeck, K.H.3
  • 93
    • 0002462471 scopus 로고    scopus 로고
    • Treatment of genetic disease
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. 8th edn. New York: McGraw-Hill
    • Treacy EP, Valle D, Scriver CR (2001) Treatment of genetic disease. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 175-191.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 175-191
    • Treacy, E.P.1    Valle, D.2    Scriver, C.R.3
  • 94
    • 1842741341 scopus 로고    scopus 로고
    • Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff patients
    • Tropak MB, Reid SP, Guiral M, et al (2004) Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff patients. J Biol Chem 279: 13478-13487.
    • (2004) J. Biol. Chem. , vol.279 , pp. 13478-13487
    • Tropak, M.B.1    Reid, S.P.2    Guiral, M.3
  • 95
    • 0011885237 scopus 로고    scopus 로고
    • First clinical test with recombinant human α-glucosidase from rabbit milk shows therapeutic effect in Pompe disease
    • Van den Hout H, Reuser A, Vulto A, et al (2000a) First clinical test with recombinant human α-glucosidase from rabbit milk shows therapeutic effect in Pompe disease. Am J Hum Genet 67(supplement 2): 6.
    • (2000) Am. J. Hum. Genet. , vol.67 , Issue.SUPPL. 2 , pp. 6
    • Van den Hout, H.1    Reuser, A.2    Vulto, A.3
  • 96
    • 0034729963 scopus 로고    scopus 로고
    • Recombinant human α-glucosidase from rabbit milk in Pompe patients
    • Van den Hout H, Reuser AJ, Vulto AG, et al (2000b) Recombinant human α-glucosidase from rabbit milk in Pompe patients. Lancet 356: 397-398.
    • (2000) Lancet , vol.356 , pp. 397-398
    • Van den Hout, H.1    Reuser, A.J.2    Vulto, A.G.3
  • 97
    • 0035009304 scopus 로고    scopus 로고
    • Enzyme therapy for Pompe disease with recombinant human α-glucosidase from rabbit milk
    • Van den Hout JM, Reuser AJ, de Klerk JB, et al (2001) Enzyme therapy for Pompe disease with recombinant human α-glucosidase from rabbit milk. J Inherit Metab Dis 24: 266-274.
    • (2001) J. Inherit. Metab. Dis. , vol.24 , pp. 266-274
    • Van den Hout, J.M.1    Reuser, A.J.2    de Klerk, J.B.3
  • 98
    • 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 (2004) Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics 113: 448-457.
    • (2004) Pediatrics , vol.113 , pp. 448-457
    • Van den Hout, J.M.1    Kamphoven, J.H.2    Winkel, L.P.3
  • 99
    • 0011903879 scopus 로고    scopus 로고
    • Preliminary findings in patients with late onset Pompe's disease treated with recombinant human α-glucosidase from rabbit milk
    • van der Ploeg AT, Winkel LPF, van Diggelen OP, et al (2002) Preliminary findings in patients with late onset Pompe's disease treated with recombinant human α-glucosidase from rabbit milk. J Inherit Metab Dis 25: 118.
    • (2002) J. Inherit. Metab. Dis. , vol.25 , pp. 118
    • van der Ploeg, A.T.1    Winkel, L.P.F.2    van Diggelen, O.P.3
  • 100
    • 0030069717 scopus 로고    scopus 로고
    • High-level production of recombinant human lysosomal acid α-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease
    • Van Hove JL, Yang HW, Wu JY, Brady RO, Chen YT (1996) High-level production of recombinant human lysosomal acid α-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease. Proc Natl Acad Sci USA 93: 65-70.
    • (1996) Proc. Natl. Acad. Sci. USA , vol.93 , pp. 65-70
    • Van Hove, J.L.1    Yang, H.W.2    Wu, J.Y.3    Brady, R.O.4    Chen, Y.T.5
  • 101
    • 0033010571 scopus 로고    scopus 로고
    • Enzyme replacement in murine mucopolysaccharidosis type VII: Neuronal and glial response to beta-glucuronidase requires early initiation of enzyme replacement therapy
    • Vogler C, Levy B, Galvin NJ, et al (1999) Enzyme replacement in murine mucopolysaccharidosis type VII: neuronal and glial response to beta-glucuronidase requires early initiation of enzyme replacement therapy. Pediatr Res 45: 342-348.
    • (1999) Pediatr. Res. , vol.45 , pp. 342-348
    • Vogler, C.1    Levy, B.2    Galvin, N.J.3
  • 102
    • 0026099642 scopus 로고
    • An atypical variant of Fabry's disease with manifestations confined to the myocardium
    • von Scheidt W, Eng CM, Fitzmaurice TF, et al (1991) An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med 324: 395-399.
    • (1991) N. Engl. J. Med. , vol.324 , pp. 395-399
    • von Scheidt, W.1    Eng, C.M.2    Fitzmaurice, T.F.3
  • 103
    • 0018379952 scopus 로고
    • Enzyme replacement in Tay-Sachs disease
    • von Specht BU, Geiger B, Arnon R, et al (1979) Enzyme replacement in Tay-Sachs disease. Neurology 29: 848-854.
    • (1979) Neurology , vol.29 , pp. 848-854
    • von Specht, B.U.1    Geiger, B.2    Arnon, R.3
  • 104
    • 0037456761 scopus 로고    scopus 로고
    • PR interval and the response to enzyme-replacement therapy for Fabry's disease
    • Waldek S (2003) PR interval and the response to enzyme-replacement therapy for Fabry's disease. N Engl J Med 348: 1186-1187.
    • (2003) N. Engl. J. Med. , vol.348 , pp. 1186-1187
    • Waldek, S.1
  • 105
    • 0141765881 scopus 로고    scopus 로고
    • Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: A prospective strain rate imaging study
    • Weidemann F, Breunig F, Beer M, et al (2003) Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation 108: 1299-1301.
    • (2003) Circulation , vol.108 , pp. 1299-1301
    • Weidemann, F.1    Breunig, F.2    Beer, M.3
  • 106
    • 0037159549 scopus 로고    scopus 로고
    • Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: A report from the Gaucher Registry
    • Weinreb NJ, Charrow J, Andersson HC, et al (2002) Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med 113: 112-119.
    • (2002) Am. J. Med. , vol.113 , pp. 112-119
    • Weinreb, N.J.1    Charrow, J.2    Andersson, H.C.3
  • 107
    • 0030154323 scopus 로고    scopus 로고
    • Influence of molecular and chemical chaperones on protein folding
    • Welch WJ, Brown CR (1996) Influence of molecular and chemical chaperones on protein folding. Cell Stress Chaperones 1: 109-115.
    • (1996) Cell Stress Chaperones , vol.1 , pp. 109-115
    • Welch, W.J.1    Brown, C.R.2
  • 108
  • 109
    • 3142554529 scopus 로고    scopus 로고
    • Long-term safety and efficacy of enzyme replacement therapy for Fabry disease
    • in press
    • Wilcox WR, Banikazemi M, Guffon N, et al (2004) Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet, in press.
    • (2004) Am. J. Hum. Genet.
    • Wilcox, W.R.1    Banikazemi, M.2    Guffon, N.3
  • 110
    • 12144287218 scopus 로고    scopus 로고
    • Enzyme replacement therapy in late-onset Pompe's disease: A three-year follow-up
    • Winkel LP, Van den Hout JM, Kamphoven JH, et al (2004) Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up. Ann Neurol 55: 495-502.
    • (2004) Ann. Neurol. , vol.55 , pp. 495-502
    • Winkel, L.P.1    Van den Hout, J.M.2    Kamphoven, J.H.3
  • 111
    • 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, et al (2004) Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (Laronidase). J Pediatr 144: 581-588.
    • (2004) J. Pediatr. , vol.144 , pp. 581-588
    • Wraith, J.E.1    Clarke, L.A.2    Beck, M.3
  • 113
    • 0035399848 scopus 로고    scopus 로고
    • Not such a dismal science: The economics of protein synthesis, folding, degradation and antigen processing
    • Yewdell JW (2001) Not such a dismal science: the economics of protein synthesis, folding, degradation and antigen processing. Trends Cell Biol 11: 294-297.
    • (2001) Trends Cell Biol. , vol.11 , pp. 294-297
    • Yewdell, J.W.1
  • 114
    • 0030796039 scopus 로고    scopus 로고
    • Plasma chitotriosidase activity in Gaucher disease patients who have been treated either by bone marrow transplantation or by enzyme replacement therapy with alglucerase
    • Young E, Chatterton C, Vellodi A, Winchester B (1997) Plasma chitotriosidase activity in Gaucher disease patients who have been treated either by bone marrow transplantation or by enzyme replacement therapy with alglucerase. J Inherit Metab Dis 20: 595-602.
    • (1997) J. Inherit. Metab. Dis. , vol.20 , pp. 595-602
    • Young, E.1    Chatterton, C.2    Vellodi, A.3    Winchester, B.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.