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Volumn 2, Issue , 2012, Pages 11-15

Immune modulation therapy in a CRIM-positive and IgG antibody-positive infant with pompe disease treated with alglucosidase Alfa: A case report

Author keywords

Antibody titer; Enzyme replacement therapy; Glycogen storage disease; Left ventricular mass index; Pompe disease

Indexed keywords


EID: 84881145296     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2011_34     Document Type: Chapter
Times cited : (13)

References (16)
  • 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, Majure JM, Case LE, Veerling DL 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
    • Amalfitano, A.1    Bengur, A.R.2    Morse, R.P.3    Majure, J.M.4    Case, L.E.5    Veerling, D.L.6
  • 2
    • 0032848015 scopus 로고    scopus 로고
    • Frequency of glycogen storage disease type II in The Netherlands: Implications for diagnosis and genetic counselling
    • Ausems MG, Verbiest J, Hermans MP, Kroos MA, Beemer FA, Wokke JH et al (1999) Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet 7:713–716
    • (1999) Eur J Hum Genet , vol.7 , pp. 713-716
    • Ausems, M.G.1    Verbiest, J.2    Hermans, M.P.3    Kroos, M.A.4    Beemer, F.A.5    Wokke, J.H.6
  • 3
    • 48249086144 scopus 로고    scopus 로고
    • Early detection of Pompe disease by newborn screening is feasible: Results from the Taiwan screening program
    • Chien YH, Chiang SC, Zhang XK, Keutzer J, Lee NC, Huang AC et al (2008) Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. Pediatrics 122:e39–45
    • (2008) Pediatrics , vol.122 , pp. e39-e45
    • Chien, Y.H.1    Chiang, S.C.2    Zhang, X.K.3    Keutzer, J.4    Lee, N.C.5    Huang, A.C.6
  • 4
    • 0000995321 scopus 로고    scopus 로고
    • Glycogen storage disease type II: Acid alpha-glucosidase (acid maltase) deficiency
    • Scriver CR, Beaudet AL, Sly WS, Valle D, McGraw-Hill, New York
    • Hirschhorn R, Reuser A (2001) Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 3389–3420
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3389-3420
    • Hirschhorn, R.1    Reuser, A.2
  • 5
    • 40449085408 scopus 로고    scopus 로고
    • Immune tolerance induction to enzyme-replacement therapy by co-administration of short-term, low-dose methotrexate in a murine Pompe disease model
    • Joseph A, Munroe K, Housman M, Garman R, Richards S (2008) Immune tolerance induction to enzyme-replacement therapy by co-administration of short-term, low-dose methotrexate in a murine Pompe disease model. Clin Exp Immunol 152:138–146
    • (2008) Clin Exp Immunol , vol.152 , pp. 138-146
    • Joseph, A.1    Munroe, K.2    Housman, M.3    Garman, R.4    Richards, S.5
  • 6
    • 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, Yong F, Corzo D (2006a) A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 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    Yong, F.5    Corzo, D.6
  • 7
    • 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, Rogers RC, Tsai AC, Waterson J 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    Rogers, R.C.4    Tsai, A.C.5    Waterson, J.6
  • 8
    • 33846033132 scopus 로고    scopus 로고
    • Recombinant human acid [alpha]-glucosidase: Major clinical benefits in infantile-onset Pompe disease
    • Kishnani PS, Corzo D, Nicolino M, Byrne B, Mandel H, Hwu WL 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    Byrne, B.4    Mandel, H.5    Hwu, W.L.6
  • 10
    • 70349733015 scopus 로고    scopus 로고
    • Desensitization of an adult patient with Pompe disease and a history of anaphylaxis to alglucosidase alfa
    • Lipinski SE, Lipinski MJ, Burnette A, Platts-Mills TA, Wilson WG (2009) Desensitization of an adult patient with Pompe disease and a history of anaphylaxis to alglucosidase alfa. Mol Genet Metab 98:319–321
    • (2009) Mol Genet Metab , vol.98 , pp. 319-321
    • Lipinski, S.E.1    Lipinski, M.J.2    Burnette, A.3    Platts-Mills, T.A.4    Wilson, W.G.5
  • 11
    • 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, Arvanitopoulos E, Chen Y, Rom WN 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    Arvanitopoulos, E.4    Chen, Y.5    Rom, W.N.6
  • 13
    • 63449127241 scopus 로고    scopus 로고
    • Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease
    • Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Freyer DR et al (2009) Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med 11:210–219
    • (2009) Genet Med , vol.11 , pp. 210-219
    • Nicolino, M.1    Byrne, B.2    Wraith, J.E.3    Leslie, N.4    Mandel, H.5    Freyer, D.R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.