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Volumn 1, Issue 3, 2007, Pages 195-201

A review of treatment of pompe disease in infants

Author keywords

Alglucosidase alfa; Alpha glucosidase; Pompe disease

Indexed keywords


EID: 79956191593     PISSN: 11775475     EISSN: 11775491     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (13)

References (74)
  • 1
    • 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, 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, 3:132-8.
    • (2001) Genet Med , vol.3 , pp. 132-138
    • Amalfitano, A.1    Bengur, A.R.2    Morse, R.P.3
  • 2
    • 33745634913 scopus 로고    scopus 로고
    • Electrocardiographic response to enzyme replacement therapy for Pompe disease
    • Ansong AK, Li JS, Nozik-Grayck E, et al. 2006. Electrocardiographic response to enzyme replacement therapy for Pompe disease. Genet Med, 8:297-301.
    • (2006) Genet Med , vol.8 , pp. 297-301
    • Ansong, A.K.1    Li, J.S.2    Nozik-Grayck, E.3
  • 3
    • 0035153479 scopus 로고    scopus 로고
    • Lessons learned from the development of enzyme therapy for Gaucher disease
    • discussion 87-8
    • Barranger JA, O'Rourke E. 2001. Lessons learned from the development of enzyme therapy for Gaucher disease. J Inherit Metab Dis, 24 (Suppl 2):89-96; discussion 87-8.
    • (2001) J Inherit Metab Dis , vol.24 , Issue.2 , pp. 89-96
    • Barranger, J.A.1    O'Rourke, E.2
  • 4
    • 0023991830 scopus 로고
    • Glycogen storage disease type II in Israel
    • Bashan N, Potashnik R, Barash V, et al. 1988. Glycogen storage disease type II in Israel. Israel J Med Sci, 24:224-7.
    • (1988) Israel J Med Sci , vol.24 , pp. 224-227
    • Bashan, N.1    Potashnik, R.2    Barash, V.3
  • 5
    • 0036016096 scopus 로고    scopus 로고
    • Agalsidase alfa-a preparation for enzyme replacement therapy in Anderson-Fabry disease
    • Beck M. 2002. Agalsidase alfa-a preparation for enzyme replacement therapy in Anderson-Fabry disease. Expert Opin Investig Drugs, 11:851-8.
    • (2002) Expert Opin Investig Drugs , vol.11 , pp. 851-858
    • Beck, M.1
  • 6
    • 33947198645 scopus 로고    scopus 로고
    • New therapeutic options for lysosomal storage disorders: Enzyme replacement, small molecules and gene therapy
    • Beck M. 2007. New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy. Hum Genet, 121:1-22.
    • (2007) Hum Genet , vol.121 , pp. 1-22
    • Beck, M.1
  • 7
    • 0346888534 scopus 로고    scopus 로고
    • Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glyco- genosis type II
    • Bembi B, Ciana G, Martini C, et al. 2003. Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glyco- genosis type II. J Inherit Metab Dis, 26:675-81.
    • (2003) J Inherit Metab Dis , vol.26 , pp. 675-681
    • Bembi, B.1    Ciana, G.2    Martini, C.3
  • 8
    • 0030583305 scopus 로고    scopus 로고
    • Expression of cDNA- encoded human acid alpha-glucosidase in milk of transgenic mice
    • Bijvoet AG, Kroos MA, Pieper FR, et al. 1996. Expression of cDNA- encoded human acid alpha-glucosidase in milk of transgenic mice. Biochimica et biophysica acta, 1308:93-6.
    • (1996) Biochimica Et Biophysica Acta , vol.1308 , pp. 93-96
    • Bijvoet, A.G.1    Kroos, M.A.2    Pieper, F.R.3
  • 9
    • 0031716741 scopus 로고    scopus 로고
    • Recombinant human acid alpha-glucosidase: High level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice
    • Bijvoet AG, Kroos MA, Pieper FR, et al. 1998. Recombinant human acid alpha-glucosidase: high level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice. Hum Mol Genet, 7:1815-24.
    • (1998) Hum Mol Genet , vol.7 , pp. 1815-1824
    • Bijvoet, A.G.1    Kroos, M.A.2    Pieper, F.R.3
  • 10
    • 0032698194 scopus 로고    scopus 로고
    • Human acid alpha- 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 alpha- glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II. Hum Mol Genet, 8:2145-53.
    • (1999) Hum Mol Genet , vol.8 , pp. 2145-2153
    • Bijvoet, A.G.1    van Hirtum, H.2    Kroos, M.A.3
  • 11
    • 0028923706 scopus 로고
    • Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II
    • Boerkoel CF, Exelbert R, Nicastri C, et al. 1995. Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II. Am J Hum Genet, 56:887-97.
    • (1995) Am J Hum Genet , vol.56 , pp. 887-897
    • Boerkoel, C.F.1    Exelbert, R.2    Nicastri, C.3
  • 12
    • 32944476769 scopus 로고    scopus 로고
    • Enzyme replacement for lysosomal diseases
    • Brady RO. 2006. Enzyme replacement for lysosomal diseases. Annu Rev Med, 57:283-96.
    • (2006) Annu Rev Med , vol.57 , pp. 283-296
    • Brady, R.O.1
  • 13
    • 0016201884 scopus 로고
    • Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase inGaucher's disease
    • Brady RO, Pentchev PG, Gal AE, et al. 1974. Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase inGaucher's disease. N Engl J Med, 291:989-93.
    • (1974) N Engl J Med , vol.291 , pp. 989-993
    • Brady, R.O.1    Pentchev, P.G.2    Gal, A.E.3
  • 14
    • 34147184428 scopus 로고    scopus 로고
    • Fractures in children with Pompe disease: A potentiallong-term complication
    • Case LE, Hanna R, Frush DP, et al. 2007. Fractures in children with Pompe disease: a potentiallong-term complication. Pediatr Radiol, 37:437-45.
    • (2007) Pediatr Radiol , vol.37 , pp. 437-445
    • Case, L.E.1    Hanna, R.2    Frush, D.P.3
  • 15
    • 0035064872 scopus 로고    scopus 로고
    • Diagnosis of alpha-L-iduronidase deficiency in dried blood spots on filter paper: The possibility of newborn diagnosis
    • Chamoles NA, Blanco M, Gaggioli D. 2001. Diagnosis of alpha-L-iduronidase deficiency in dried blood spots on filter paper: the possibility of newborn diagnosis. Clin Chem, 47:780-1.
    • (2001) Clin Chem , vol.47 , pp. 780-781
    • Chamoles, N.A.1    Blanco, M.2    Gaggioli, D.3
  • 16
    • 0036155174 scopus 로고    scopus 로고
    • Gaucher and Niemann-Pick diseases-enzymatic diagnosis in dried blood spots on filter paper: Retrospective diagnoses in newborn-screening cards
    • Chamoles NA, Blanco M, Gaggioli D, et al. 2002a. Gaucher and Niemann-Pick diseases-enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. Clin Chim Acta, 317:191-7.
    • (2002) Clin Chim Acta , vol.317 , pp. 191-197
    • Chamoles, N.A.1    Blanco, M.2    Gaggioli, D.3
  • 17
    • 0036184049 scopus 로고    scopus 로고
    • Tay-Sachs and Sandhoff diseases: Enzymatic diagnosis in dried blood spots on filter paper: Retrospec- tive diagnoses in newborn-screening cards
    • Chamoles NA, Blanco M, Gaggioli D, et al. 2002b. Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospec- tive diagnoses in newborn-screening cards. Clin Chim Acta, 318:133-7.
    • (2002) Clin Chim Acta , vol.318 , pp. 133-137
    • Chamoles, N.A.1    Blanco, M.2    Gaggioli, D.3
  • 18
    • 4143095952 scopus 로고    scopus 로고
    • Glycogen storage disease type II: Enzymatic screening in dried blood spots on filter paper
    • Chamoles NA, Niizawa G, Blanco M, et al. 2004. Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper. ClinChim Acta, 347:97-102.
    • (2004) ClinChim Acta , vol.347 , pp. 97-102
    • Chamoles, N.A.1    Niizawa, G.2    Blanco, M.3
  • 19
    • 33747609102 scopus 로고    scopus 로고
    • Brain development in infantile- onset Pompe disease treated by enzyme replacement therapy
    • Chien YH, Lee NC, Peng SF, et al. 2006. Brain development in infantile- onset Pompe disease treated by enzyme replacement therapy. Pediatr Res, 60:349-52.
    • (2006) Pediatr Res , vol.60 , pp. 349-352
    • Chien, Y.H.1    Lee, N.C.2    Peng, S.F.3
  • 20
    • 33745584427 scopus 로고    scopus 로고
    • Ambulatory electro- cardiogram analysis in infants treated with recombinant human acidalpha-glucosidase enzyme replacement therapy for Pompe disease
    • Cook AL, Kishnani PS, Carboni MP, et al. 2006. Ambulatory electro- cardiogram analysis in infants treated with recombinant human acidalpha-glucosidase enzyme replacement therapy for Pompe disease. Genet Med, 8:313-17.
    • (2006) Genet Med , vol.8 , pp. 313-317
    • Cook, A.L.1    Kishnani, P.S.2    Carboni, M.P.3
  • 21
    • 0019378026 scopus 로고
    • Lysosomal glycogen storage disease with normal acid maltase
    • Danon MJ, Oh SJ, DiMauro S, et al. 1981. Lysosomal glycogen storage disease with normal acid maltase. Neurology, 31:51-7.
    • (1981) Neurology , vol.31 , pp. 51-57
    • Danon, M.J.1    Oh, S.J.2    Dimauro, S.3
  • 23
    • 26944475263 scopus 로고    scopus 로고
    • The lysosome turns fifty
    • de Duve C. 2005. The lysosome turns fifty. Nat Cell Biol, 7:847-9.
    • (2005) Nat Cell Biol , vol.7 , pp. 847-849
    • de Duve, C.1
  • 24
    • 0017708011 scopus 로고
    • Enzyme replacement therapy in Gaucher's disease: Large-scale purification of glucocer- ebrosidase suitable for human administration
    • Furbish FS, Blair HE, Shiloach J, et al. 1977. Enzyme replacement therapy in Gaucher's disease: large-scale purification of glucocer- ebrosidase suitable for human administration. Proc Nat Acad Sci USA, 74:3560-3.
    • (1977) Proc Nat Acad Sci USA , vol.74 , pp. 3560-3563
    • Furbish, F.S.1    Blair, H.E.2    Shiloach, J.3
  • 25
    • 0015093712 scopus 로고
    • Nervous system in Pompe's disease. Ultrastructure and biochemistry
    • Gambetti P, DiMauro S, Baker L. 1971. Nervous system in Pompe's disease. Ultrastructure and biochemistry. J Neuropathol Exp Neurol, 30:412-30.
    • (1971) J Neuropathol Exp Neurol , vol.30 , pp. 412-430
    • Gambetti, P.1    Dimauro, S.2    Baker, L.3
  • 26
    • 9144269702 scopus 로고    scopus 로고
    • Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II
    • Hermans MM, van Leenen D, Kroos MA, et al. 2004. Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. Hum Mutat, 23:47-56.
    • (2004) Hum Mutat , vol.23 , pp. 47-56
    • Hermans, M.M.1    van Leenen, D.2    Kroos, M.A.3
  • 27
    • 73649187940 scopus 로고
    • Alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease)
    • Hers HG. 1963. Alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease). Biochem J, 86:11-16.
    • (1963) Biochem J , vol.86 , pp. 11-16
    • Hers, H.G.1
  • 28
    • 0000995321 scopus 로고    scopus 로고
    • Glycogen storage disease type II: Acid alpha-glucosidase (acid maltase) deficiency
    • Schriver CR, Beaudet AL, Sly WS, Valle D eds, McGraw-Hill, New York
    • Hirschhorn R, Reuser AJJ. 2001. Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Schriver CR, Beaudet AL, Sly WS, Valle D eds. The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, p 3389-420.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3389-3420
    • Hirschhorn, R.1    Reuser, A.J.J.2
  • 29
    • 33745626499 scopus 로고    scopus 로고
    • Diagnostic challenges for Pompe disease: An under-recognized cause of floppy baby syndrome
    • Howell RR, Byrne B, Darras BT, et al. 2006. Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome. Genet Med, 8:289-96.
    • (2006) Genet Med , vol.8 , pp. 289-296
    • Howell, R.R.1    Byrne, B.2    Darras, B.T.3
  • 30
    • 0027937760 scopus 로고
    • Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease)
    • Huie ML, Hirschhorn R, Chen AS, et al. 1994. Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease). Hum Mutat, 4:291-3.
    • (1994) Hum Mutat , vol.4 , pp. 291-293
    • Huie, M.L.1    Hirschhorn, R.2    Chen, A.S.3
  • 31
    • 16644388759 scopus 로고    scopus 로고
    • Nephrotic syndrome com- plicating alpha-glucosidase replacement therapy for Pompe disease
    • Hunley TE, Corzo D, Dudek M, et al. 2004. Nephrotic syndrome com- plicating alpha-glucosidase replacement therapy for Pompe disease. Pediatrics, 114:e532-5.
    • (2004) Pediatrics , vol.114
    • Hunley, T.E.1    Corzo, D.2    Dudek, M.3
  • 32
    • 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 Investig, 101:827-33.
    • (1998) J Clin Investig , vol.101 , pp. 827-833
    • Kikuchi, T.1    Yang, H.W.2    Pennybacker, M.3
  • 33
    • 33846033132 scopus 로고    scopus 로고
    • Recombinant human acid [alpha]-glucosidase: Major clinical benefits in infantile-onset Pompe disease
    • Kishnani PS, Corzo D, Nicolino M, et al. 2007. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology, 68:99-109.
    • (2007) Neurology , vol.68 , pp. 99-109
    • Kishnani, P.S.1    Corzo, D.2    Nicolino, M.3
  • 34
    • 33646830132 scopus 로고    scopus 로고
    • A retrospective, multina- tional, multicenter study on the natural history of infantile-onset Pompe disease
    • Kishnani PS, Hwu WL, Mandel H, et al. 2006a. A retrospective, multina- tional, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr, 148:671-6.
    • (2006) J Pediatr , vol.148 , pp. 671-676
    • Kishnani, P.S.1    Hwu, W.L.2    Mandel, H.3
  • 35
    • 33746151202 scopus 로고    scopus 로고
    • Chinese hamster ovary cell- derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease
    • Kishnani PS, Nicolino M, Voit T, et al. 2006b. Chinese hamster ovary cell- derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr, 149:89-97.
    • (2006) J Pediatr , vol.149 , pp. 89-97
    • Kishnani, P.S.1    Nicolino, M.2    Voit, T.3
  • 36
    • 33745589302 scopus 로고    scopus 로고
    • Pompe disease diagnosis and management guideline
    • Kishnani PS, Steiner RD, Bali D, et al. 2006c. Pompe disease diagnosis and management guideline. Genet Med, 8:267-88.
    • (2006) Genet Med , vol.8 , pp. 267-288
    • Kishnani, P.S.1    Steiner, R.D.2    Bali, D.3
  • 37
    • 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 V, Neudorf U, et al. 2005a. Safety and efficacy of recombi- nant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial. Neuromuscul Disord, 15:24-31.
    • (2005) Neuromuscul Disord , vol.15 , pp. 24-31
    • Klinge, L.1    Straub, V.2    Neudorf, U.3
  • 38
    • 18444368694 scopus 로고    scopus 로고
    • Enzyme replacement therapy in classical infantile pompe disease: Results of a ten-month follow-up study
    • Klinge L, Straub V, Neudorf U, et al. 2005b. Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study. Neuropediatrics, 36:6-11.
    • (2005) Neuropediatrics , vol.36 , pp. 6-11
    • Klinge, L.1    Straub, V.2    Neudorf, U.3
  • 39
    • 0032911150 scopus 로고    scopus 로고
    • Molecular genetic study of Pompe disease in Chinese patients in Taiwan
    • Ko TM, Hwu WL, Lin YW, et al. 1999. Molecular genetic study of Pompe disease in Chinese patients in Taiwan. Hum Mutat, 13:380-4.
    • (1999) Hum Mutat , vol.13 , pp. 380-384
    • Ko, T.M.1    Hwu, W.L.2    Lin, Y.W.3
  • 40
    • 0029384345 scopus 로고
    • Glycogen storage disease type II: Frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients
    • Kroos MA, Van der Kraan M, Van Diggelen OP, et al. 1995. Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients. J Med Genet, 32:836-37.
    • (1995) J Med Genet , vol.32 , pp. 836-837
    • Kroos, M.A.1    Van der Kraan, M.2    van Diggelen, O.P.3
  • 41
    • 4644273798 scopus 로고    scopus 로고
    • Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening
    • Li Y, Scott CR, Chamoles NA, et al. 2004. Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clin Chem, 50:1785-96.
    • (2004) Clin Chem , vol.50 , pp. 1785-1796
    • Li, Y.1    Scott, C.R.2    Chamoles, N.A.3
  • 43
    • 13844316668 scopus 로고    scopus 로고
    • Infantile onset Pompe disease: A report of physician narratives from an epidemiologic study
    • Marsden D. 2005. Infantile onset Pompe disease: a report of physician narratives from an epidemiologic study. Genet Med, 7:147-50.
    • (2005) Genet Med , vol.7 , pp. 147-150
    • Marsden, D.1
  • 44
    • 0031695078 scopus 로고    scopus 로고
    • Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease
    • Martiniuk F, Chen A, Mack A, et al. 1998. Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. Am J Med Genet, 79:69-72.
    • (1998) Am J Med Genet , vol.79 , pp. 69-72
    • Martiniuk, F.1    Chen, A.2    Mack, A.3
  • 45
    • 17044440789 scopus 로고    scopus 로고
    • Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
    • Nishino I, Fu J, Tanji K, et al. 2000. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature, 406:906-10.
    • (2000) Nature , vol.406 , pp. 906-910
    • Nishino, I.1    Fu, J.2    Tanji, K.3
  • 46
    • 33745497185 scopus 로고    scopus 로고
    • Enhancement of drug delivery to bone: Characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide
    • Nishioka T, Tomatsu S, Gutierrez MA, et al. 2006. Enhancement of drug delivery to bone: characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide. Mol Genet Metab, 88:244-55.
    • (2006) Mol Genet Metab , vol.88 , pp. 244-255
    • Nishioka, T.1    Tomatsu, S.2    Gutierrez, M.A.3
  • 47
    • 0000314638 scopus 로고
    • Over idiopatische hypertrophie van het hart
    • Pompe J-C. 1932. Over idiopatische hypertrophie van het hart. Ned Tijdshr Geneeskd, 76:304.
    • (1932) Ned Tijdshr Geneeskd , vol.76 , pp. 304
    • Pompe, J.-C.1
  • 48
    • 0032780351 scopus 로고    scopus 로고
    • The frequency of lysoso- mal storage diseases in The Netherlands
    • Poorthuis BJ, Wevers RA, Kleijer WJ, et al. 1999. The frequency of lysoso- mal storage diseases in The Netherlands. Hum Genet, 105:151-6.
    • (1999) Hum Genet , vol.105 , pp. 151-156
    • Poorthuis, B.J.1    Wevers, R.A.2    Kleijer, W.J.3
  • 50
    • 0036086765 scopus 로고    scopus 로고
    • Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease)
    • Raben N, Plotz P, Byrne BJ. 2002. Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease). Curr Mol Med, 2:145-66.
    • (2002) Curr Mol Med , vol.2 , pp. 145-166
    • Raben, N.1    Plotz, P.2    Byrne, B.J.3
  • 51
    • 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, et al. 1999. Immunosurveillance of alglucerase enzyme therapy for Gaucher patients: induction of humoral tolerance in seroconverted patients after repeat administration. Blood, 93:2081-8.
    • (1999) Blood , vol.93 , pp. 2081-2088
    • Rosenberg, M.1    Kingma, W.2    Fitzpatrick, M.A.3
  • 52
    • 18844388455 scopus 로고    scopus 로고
    • Gaucher disease and cancer incidence: A study from the Gaucher Registry
    • Rosenbloom BE, Weinreb NJ, Zimran A, et al. 2005. Gaucher disease and cancer incidence: a study from the Gaucher Registry. Blood, 105:4569-72.
    • (2005) Blood , vol.105 , pp. 4569-4572
    • Rosenbloom, B.E.1    Weinreb, N.J.2    Zimran, A.3
  • 53
    • 0016318559 scopus 로고
    • Glycogenosis type II (Pompe). The fourth autopsy case in Japan
    • Sakurai I, Tosaka A, Mori Y, et al. 1974. Glycogenosis type II (Pompe). The fourth autopsy case in Japan. Acta Pathol Jpn, 24:829-46.
    • (1974) Acta Pathol Jpn , vol.24 , pp. 829-846
    • Sakurai, I.1    Tosaka, A.2    Mori, Y.3
  • 54
    • 0018373816 scopus 로고
    • Use of immobilized antibodies in investigating acid alpha-glucosidase in urine in relation to Pompe's disease
    • Schram AW, Brouwer-Kelder B, Donker-Koopman WE, et al. 1979. Use of immobilized antibodies in investigating acid alpha-glucosidase in urine in relation to Pompe's disease. Biochimica et biophysica acta, 567:370-83.
    • (1979) Biochimica Et Biophysica Acta , vol.567 , pp. 370-383
    • Schram, A.W.1    Brouwer-Kelder, B.2    Donker-Koopman, W.E.3
  • 55
    • 33749250737 scopus 로고    scopus 로고
    • Glycogen storage disease: Clinical, biochemical, and molecular heterogeneity
    • Shin YS. 2006. Glycogen storage disease: clinical, biochemical, and molecular heterogeneity. Semin Pediatr Neurol, 13:115-20.
    • (2006) Semin Pediatr Neurol , vol.13 , pp. 115-120
    • Shin, Y.S.1
  • 56
    • 0021815441 scopus 로고
    • Diagnosis of Pompe's disease using leukocyte preparations. Kinetic and immunological studies of 1,4-alpha-glucosidase in human fetal and adult tissues and cultured cells
    • Shin YS, Endres W, Unterreithmeier J, et al. 1985. Diagnosis of Pompe's disease using leukocyte preparations. Kinetic and immunological studies of 1,4-alpha-glucosidase in human fetal and adult tissues and cultured cells. Clin Chim Acta, 148:9-19.
    • (1985) Clin Chim Acta , vol.148 , pp. 9-19
    • Shin, Y.S.1    Endres, W.2    Unterreithmeier, J.3
  • 57
    • 0018068562 scopus 로고
    • Alpha-glucosidase activity in human leucocytes: Choice of lymphocytes for the diagnosis of Pompe's disease and the carrier state
    • Taniguchi N, Kato E, Yoshida H, et al. 1978. alpha-glucosidase activity in human leucocytes: choice of lymphocytes for the diagnosis of Pompe's disease and the carrier state. Clin Chim Acta, 89:293-9.
    • (1978) Clin Chim Acta , vol.89 , pp. 293-299
    • Taniguchi, N.1    Kato, E.2    Yoshida, H.3
  • 58
    • 33751211826 scopus 로고    scopus 로고
    • Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease
    • Thurberg BL, Lynch Maloney C, Vaccaro C, et al. 2006. Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease. Lab Invest, 86:1208-20.
    • (2006) Lab Invest , vol.86 , pp. 1208-1220
    • Thurberg, B.L.1    Lynch, M.C.2    Vaccaro, C.3
  • 59
    • 34147098050 scopus 로고    scopus 로고
    • Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine- 6-sulfate sulfatase
    • Tomatsu S, Montano AM, Gutierrez M, et al. 2007. Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine- 6-sulfate sulfatase. Mol Genet Metab, 91:69-78.
    • (2007) Mol Genet Metab , vol.91 , pp. 69-78
    • Tomatsu, S.1    Montano, A.M.2    Gutierrez, M.3
  • 60
    • 0033792598 scopus 로고    scopus 로고
    • Frequent mutations in Japanese patients with acid maltase deficiency
    • Tsujino S, Huie M, Kanazawa N, et al. 2000. Frequent mutations in Japanese patients with acid maltase deficiency. Neuromuscul Disord, 10:599-603.
    • (2000) Neuromuscul Disord , vol.10 , pp. 599-603
    • Tsujino, S.1    Huie, M.2    Kanazawa, N.3
  • 61
    • 0034911699 scopus 로고    scopus 로고
    • Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease
    • Umapathysivam K, Hopwood JJ, Meikle PJ. 2001. Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease. Clin Chem, 47:1378-83.
    • (2001) Clin Chem , vol.47 , pp. 1378-1383
    • Umapathysivam, K.1    Hopwood, J.J.2    Meikle, P.J.3
  • 62
    • 25644443213 scopus 로고    scopus 로고
    • Correlation of acid alpha-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease
    • Umapathysivam K, Hopwood JJ, Meikle PJ. 2005. Correlation of acid alpha-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease. Clin Chim Acta, 361:191-8.
    • (2005) Clin Chim Acta , vol.361 , pp. 191-198
    • Umapathysivam, K.1    Hopwood, J.J.2    Meikle, P.J.3
  • 63
    • 0033821427 scopus 로고    scopus 로고
    • Determination of acid alpha-glucosidase protein: Evaluation as a screening marker for Pompe disease and other lysosomal storage disorders
    • Umapathysivam K, Whittle AM, Ranieri E, et al. 2000. Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders. Clin Chem, 46:1318-25.
    • (2000) Clin Chem , vol.46 , pp. 1318-1325
    • Umapathysivam, K.1    Whittle, A.M.2    Ranieri, E.3
  • 64
    • 0034729963 scopus 로고    scopus 로고
    • Recombinant human alpha-glucosidase from rabbit milk in Pompe patients
    • van den Hout H, Reuser AJ, Vulto AG, et al. 2000. Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet, 356:397-8.
    • (2000) Lancet , vol.356 , pp. 397-398
    • van den Hout, H.1    Reuser, A.J.2    Vulto, A.G.3
  • 65
    • 0042131675 scopus 로고    scopus 로고
    • The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature
    • van den Hout HM, Hop W, van Diggelen OP, et al. 2003. The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics, 112:332-40.
    • (2003) Pediatrics , vol.112 , pp. 332-340
    • van den Hout, H.M.1    Hop, W.2    van Diggelen, O.P.3
  • 66
    • 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:e448-57.
    • (2004) Pediatrics , vol.113
    • van den Hout, J.M.1    Kamphoven, J.H.2    Winkel, L.P.3
  • 67
    • 0031401928 scopus 로고    scopus 로고
    • Purification of recom- binant human precursor acid alpha-glucosidase
    • Van Hove JL, Yang HW, Oliver LM, et al. 1997. Purification of recom- binant human precursor acid alpha-glucosidase. Bioch Mol Biol Int, 43:613-23.
    • (1997) Bioch Mol Biol Int , vol.43 , pp. 613-623
    • van Hove, J.L.1    Yang, H.W.2    Oliver, L.M.3
  • 68
    • 0030069717 scopus 로고    scopus 로고
    • High-level production of recombinant human lysosomal acid alpha-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, et al. 1996. High-level production of recombinant human lysosomal acid alpha-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease. Proc Nat Acad Sci USA, 93:65-70.
    • (1996) Proc Nat Acad Sci USA , vol.93 , pp. 65-70
    • van Hove, J.L.1    Yang, H.W.2    Wu, J.Y.3
  • 69
    • 0025782824 scopus 로고
    • Quantitation of Mr 46000 and Mr 300000 mannose 6-phosphate receptors in human cells and tissues
    • Wenk J, Hille A, von Figura K. 1991. Quantitation of Mr 46000 and Mr 300000 mannose 6-phosphate receptors in human cells and tissues. Biochem Int, 23:723-31.
    • (1991) Biochem Int , vol.23 , pp. 723-731
    • Wenk, J.1    Hille, A.2    von Figura, K.3
  • 70
    • 3142554529 scopus 로고    scopus 로고
    • Long-term safety and efficacy of enzyme replacement therapy for Fabry disease
    • 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, 75:65-74.
    • (2004) Am J Hum Genet , vol.75 , pp. 65-74
    • Wilcox, W.R.1    Banikazemi, M.2    Guffon, N.3
  • 71
    • 12144287218 scopus 로고    scopus 로고
    • Enzyme replace- ment therapy in late-onset Pompe's disease: A three-year follow-up
    • Winkel LP, Van den Hout JM, Kamphoven JH, et al. 2004. Enzyme replace- ment 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
  • 72
    • 0031886065 scopus 로고    scopus 로고
    • Recombinant human acid alpha-glucosidase corrects acid alpha-glucosidase-deficient human fibroblasts, quail fibroblasts, and quail myoblasts
    • Yang HW, Kikuchi T, Hagiwara Y, et al. 1998. Recombinant human acid alpha-glucosidase corrects acid alpha-glucosidase-deficient human fibroblasts, quail fibroblasts, and quail myoblasts. Pediatr Res, 43:374-80.
    • (1998) Pediatr Res , vol.43 , pp. 374-380
    • Yang, H.W.1    Kikuchi, T.2    Hagiwara, Y.3
  • 73
    • 9644262480 scopus 로고    scopus 로고
    • Conjugation of mannose 6-phosphate- containing oligosaccharides to acid alpha-glucosidase improves the clearance of glycogen in pompe mice
    • Zhu Y, Li X, Kyazike J, et al. 2004. Conjugation of mannose 6-phosphate- containing oligosaccharides to acid alpha-glucosidase improves the clearance of glycogen in pompe mice. J Biol Chem, 279:50336-41.
    • (2004) J Biol Chem , vol.279 , pp. 50336-50341
    • Zhu, Y.1    Li, X.2    Kyazike, J.3
  • 74
    • 23644435652 scopus 로고    scopus 로고
    • Carbohydrate-remodelled acid alpha-glucosidase with higher affinity for the cation-independent man- nose 6-phosphate receptor. demonstrates improved delivery to muscles of Pompe mice
    • Zhu Y, Li X, McVie-Wylie A, et al. 2005. Carbohydrate-remodelled acid alpha-glucosidase with higher affinity for the cation-independent man- nose 6-phosphate receptor. demonstrates improved delivery to muscles of Pompe mice. Biochem J, 389:619-28.
    • (2005) Biochem J , vol.389 , pp. 619-628
    • Zhu, Y.1    Li, X.2    McVie-Wylie, A.3


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