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Volumn 77, Issue 6, 2011, Pages 594-595

Making diagnosis of pompe disease at a presymptomatic stage: To treat or not to treat? Clinical/scientific notes

Author keywords

[No Author keywords available]

Indexed keywords

GLUCAN 1,4 ALPHA GLUCOSIDASE; LIVER ENZYME; ALPHA GLUCOSIDASE; GLYCOGEN;

EID: 80053317662     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e318228c0ea     Document Type: Note
Times cited : (25)

References (7)
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    • Lysosomal storage disease 2: Pompe's disease
    • van der Ploeg AT, Reuser A J J. Lysosomal storage disease 2: Pompe's disease. Lancet 2008;372:1342-1353.
    • (2008) Lancet , vol.372 , pp. 1342-1353
    • Van Der Ploeg, A.T.1    Reuser, A.J.J.2
  • 2
    • 33846033132 scopus 로고    scopus 로고
    • Recombinant human acid α-glucosidase: Major clinical benefits in patients with infantile-onset Pompe disease
    • Kishnani P, Corzo D, Nicolino M, et al. Recombinant human acid α-glucosidase: major clinical benefits in patients with infantile-onset Pompe disease. Neurology 2007;68:99-109.
    • (2007) Neurology , vol.68 , pp. 99-109
    • Kishnani, P.1    Corzo, D.2    Nicolino, M.3
  • 3
    • 77950963839 scopus 로고    scopus 로고
    • A randomized study of alglucosidase a in late-onset Pompe's disease
    • van der Ploeg AT, Clemens PR, Corzo D, et al. A randomized study of alglucosidase a in late-onset Pompe's disease. N Engl J Med 2010;362:1396-1406.
    • (2010) N Engl J Med , vol.362 , pp. 1396-1406
    • Van Der Ploeg, A.T.1    Clemens, P.R.2    Corzo, D.3
  • 4
    • 67649259008 scopus 로고    scopus 로고
    • Enzyme replacement therapy for infantile-onset Pompe disease: Curse or cure?
    • Willems J, Petros A, Brierley J. Enzyme replacement therapy for infantile-onset Pompe disease: curse or cure? Neurology 2008;71:380-381.
    • (2008) Neurology , vol.71 , pp. 380-381
    • Willems, J.1    Petros, A.2    Brierley, J.3
  • 5
    • 0041570135 scopus 로고    scopus 로고
    • Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency
    • Wary C, Laforet P, Eymard B, et al. Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency. Neuromuscul Disord 2003;13:545-553.
    • (2003) Neuromuscul Disord , vol.13 , pp. 545-553
    • Wary, C.1    Laforet, P.2    Eymard, B.3
  • 6
    • 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, Gaggioli D, Casentini C. Glycogen storage disease type II: enzymatic screening in dried blood spots 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
  • 7
    • 77954370184 scopus 로고    scopus 로고
    • Newborn screening of lysosomal storage disorders
    • Marsden D, Levy H. Newborn screening of lysosomal storage disorders. Clin Chem 2010;56:1071-1079.
    • (2010) Clin Chem , vol.56 , pp. 1071-1079
    • Marsden, D.1    Levy, H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.