메뉴 건너뛰기




Volumn 26, Issue 1, 2007, Pages 42-44

Glycogen storage disease type II: Clinical overview

Author keywords

Alpha galactosidase; Cardiomyopathy; Myopathy

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CREATINE KINASE; LACTATE DEHYDROGENASE;

EID: 34548611613     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (34)

References (15)
  • 1
    • 0000995321 scopus 로고    scopus 로고
    • Glycogen storage disease type II: Acid alpha glucosidase (Acid maltase) deficiency
    • Scriver et al, eds, McGraw Hill;
    • Hirschorn R, Reuser AJJ. Glycogen storage disease type II: Acid alpha glucosidase (Acid maltase) deficiency. In: Scriver et al., eds. The Metabolic and Molecular bases of inherited disease. McGraw Hill; 2001. p. 3389-420.
    • (2001) The Metabolic and Molecular bases of inherited disease , pp. 3389-3420
    • Hirschorn, R.1    Reuser, A.J.J.2
  • 2
    • 23944445667 scopus 로고    scopus 로고
    • The natural course of non-classic Pompe's disease; a review of 225 published cases
    • Winkel LP, Hagemans MLC, van Doom PA, et al. The natural course of non-classic Pompe's disease; a review of 225 published cases. J Neurol 2005;252:875-84.
    • (2005) J Neurol , vol.252 , pp. 875-884
    • Winkel, L.P.1    Hagemans, M.L.C.2    van Doom, P.A.3
  • 3
    • 0033496795 scopus 로고    scopus 로고
    • Glycogen storage disease type II:birth prevalence agrees with predicted genotype frequency
    • Ausem MGEM, Berg K, Kroos MA. Glycogen storage disease type II:birth prevalence agrees with predicted genotype frequency. Community Genet 1999;2:91-6.
    • (1999) Community Genet , vol.2 , pp. 91-96
    • Ausem, M.G.E.M.1    Berg, K.2    Kroos, M.A.3
  • 4
    • 0032848015 scopus 로고    scopus 로고
    • Frequency of glycogen storage disease type II in the Netherland. Implications for diagnosis and genetic counselling
    • Ausem MGEM, Vierbiest J, Hermans MMP. Frequency of glycogen storage disease type II in the Netherland. Implications for diagnosis and genetic counselling. Eur J Hum Genet 1999;7:713-6.
    • (1999) Eur J Hum Genet , vol.7 , pp. 713-716
    • Ausem, M.G.E.M.1    Vierbiest, J.2    Hermans, M.M.P.3
  • 5
    • 0031695078 scopus 로고    scopus 로고
    • Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with this disease
    • Martiniuk F, Chen A, Mack A. Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with this disease. Am J Med Genet 1998;79:69-72.
    • (1998) Am J Med Genet , vol.79 , pp. 69-72
    • Martiniuk, F.1    Chen, A.2    Mack, A.3
  • 6
    • 0042131675 scopus 로고    scopus 로고
    • The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from literature
    • Van den Hout HMP, Hop W, van Diggelen OP, et al. The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from literature. Pediatrics 2003;113:332-40.
    • (2003) Pediatrics , vol.113 , pp. 332-340
    • Van den Hout, H.M.P.1    Hop, W.2    van Diggelen, O.P.3
  • 7
    • 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, et al. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 2006;148:671-6.
    • (2006) J Pediatr , vol.148 , pp. 671-676
    • Kishnani, P.S.1    Hwu, W.L.2    Mandel, H.3
  • 8
    • 0036086765 scopus 로고    scopus 로고
    • Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease)
    • Raben N, Plotz P, Byrne BJ. Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease). Curr Mol Med 2002;2:145-66.
    • (2002) Curr Mol Med , vol.2 , pp. 145-166
    • Raben, N.1    Plotz, P.2    Byrne, B.J.3
  • 9
    • 2342451983 scopus 로고    scopus 로고
    • Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse
    • Kamphoven JHJ, de Ruiter NMM, Winkel LPF, et al. Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse. Neurobiol Dis 2004;16:14-20.
    • (2004) Neurobiol Dis , vol.16 , pp. 14-20
    • Kamphoven, J.H.J.1    de Ruiter, N.M.M.2    Winkel, L.P.F.3
  • 10
    • 33747609102 scopus 로고    scopus 로고
    • Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy
    • Chien YH, Lee NC, Peng SF, Hwu WL. Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy. Pediatr Res 2006;60:349-52.
    • (2006) Pediatr Res , vol.60 , pp. 349-352
    • Chien, Y.H.1    Lee, N.C.2    Peng, S.F.3    Hwu, W.L.4
  • 11
    • 2942570942 scopus 로고    scopus 로고
    • Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk
    • Van den Hout JMP, Kamphoven JHJ, Winkel LP, et al. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics 2004;113:448-57.
    • (2004) Pediatrics , vol.113 , pp. 448-457
    • Van den Hout, J.M.P.1    Kamphoven, J.H.J.2    Winkel, L.P.3
  • 12
    • 33745589302 scopus 로고    scopus 로고
    • Pompe disease diagnosis and management guidelines
    • Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guidelines. Genet Med 2006;8:267-88.
    • (2006) Genet Med , vol.8 , pp. 267-288
    • Kishnani, P.S.1    Steiner, R.D.2    Bali, D.3
  • 13
    • 0018907220 scopus 로고
    • White blood cells and the diagnosis of alpha glucosidase deficiency
    • Deyfus J, Poenaru L. White blood cells and the diagnosis of alpha glucosidase deficiency. Pediatr Res 1980;14:342-4.
    • (1980) Pediatr Res , vol.14 , pp. 342-344
    • Deyfus, J.1    Poenaru, L.2
  • 14
    • 4143095952 scopus 로고    scopus 로고
    • Glycogen storage disease type II: Enzymatic screening in dried blood spot on filter paper
    • Chamoles NA, Niizawa G, Blanco M, Gaggioli D, Casentini C. Glycogen storage disease type II: enzymatic screening in dried blood spot on filter paper. Clin Chim Acta 2004;347:97-102.
    • (2004) Clin Chim Acta , vol.347 , pp. 97-102
    • Chamoles, N.A.1    Niizawa, G.2    Blanco, M.3    Gaggioli, D.4    Casentini, C.5
  • 15
    • 33745605564 scopus 로고    scopus 로고
    • A comparison of methods for lysosomal acid alpha-glucsidase activity determination from dried blood spots for diagnosis of Pompe disease
    • Zhang H, Kallwass H, Young S, Carr C. A comparison of methods for lysosomal acid alpha-glucsidase activity determination from dried blood spots for diagnosis of Pompe disease. Genet Med 2006;8:302-6.
    • (2006) Genet Med , vol.8 , pp. 302-306
    • Zhang, H.1    Kallwass, H.2    Young, S.3    Carr, C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.