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Volumn 359, Issue 1-2, 2005, Pages 205-206

Retrospective diagnosis of glycogen storage disease type II by use of a newborn-screening card [2]

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLUCOSIDASE;

EID: 23644452331     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cccn.2005.04.007     Document Type: Letter
Times cited : (11)

References (9)
  • 1
    • 0000995321 scopus 로고    scopus 로고
    • Glycogen storage disease type II: Acid a-glucosidase (acid maltase) deficiency
    • C.R. Scriver A.C. Beaudet W.S. Sly D. Valle 8th ed. McGraw-Hill New York
    • R. Hirschhorn Glycogen storage disease type II: acid a-glucosidase (acid maltase) deficiency C.R. Scriver A.C. Beaudet W.S. Sly D. Valle The metabolic and molecular bases of inherited disease 8th ed. 2000 McGraw-Hill New York 3389 3420
    • (2000) The Metabolic and Molecular Bases of Inherited Disease , pp. 3389-3420
    • Hirschhorn, R.1
  • 2
    • 0032698194 scopus 로고    scopus 로고
    • Human acid a-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type
    • A.G. Bijvoet, H. Van Hirtum, M.A. Kroos, E.H. Van de Kamp, O. Schoneveld, and P. Visser Human acid a-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type Hum Mol Genet 8 1999 2145 2153
    • (1999) Hum Mol Genet , vol.8 , pp. 2145-2153
    • Bijvoet, A.G.1    Van Hirtum, H.2    Kroos, M.A.3    Van De Kamp, E.H.4    Schoneveld, O.5    Visser, P.6
  • 3
    • 4644273798 scopus 로고    scopus 로고
    • Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening
    • Y. Li, C.R. Scott, N.A. Chamoles, A. Ghavami, B.M. Pinto, and F. Turecek Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening Clin Chem 50 2004 1785 1796
    • (2004) Clin Chem , vol.50 , pp. 1785-1796
    • Li, Y.1    Scott, C.R.2    Chamoles, N.A.3    Ghavami, A.4    Pinto, B.M.5    Turecek, F.6
  • 4
    • 4143095952 scopus 로고    scopus 로고
    • Glycogen storage disease type II: Enzymatic screening in dried blood spots on filter paper
    • N.A. Chamoles, G. Niizawa, M. Blanco, D. Gaggioli, and C. Casentini Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper Clin Chim Acta 347 2004 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
  • 6
    • 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
    • N.A. Chamoles, M. Blanco, D. Gaggioli, and C. Casentini Gaucher and Niemann-Pick diseases enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards Clin Chim Acta 317 2002 191 197
    • (2002) Clin Chim Acta , vol.317 , pp. 191-197
    • Chamoles, N.A.1    Blanco, M.2    Gaggioli, D.3    Casentini, C.4
  • 7
    • 0036184049 scopus 로고    scopus 로고
    • Tay-Sachs and Sandhoff diseases: Enzymatic diagnosis in dried blood spots on filter paper: Retrospective diagnoses in newborn-screening cards
    • N.A. Chamoles, M. Blanco, D. Gaggioli, and C. Casentini Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards Clin Chim Acta 318 2002 133 137
    • (2002) Clin Chim Acta , vol.318 , pp. 133-137
    • Chamoles, N.A.1    Blanco, M.2    Gaggioli, D.3    Casentini, C.4
  • 8
    • 0035202118 scopus 로고    scopus 로고
    • Hurler-like phenotype: Enzymatic diagnosis in dried blood spots on filter paper
    • N.A. Chamoles, M. Blanco, D. Gaggioli, and C. Casentini Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper Clin Chem 47 2001 780 781
    • (2001) Clin Chem , vol.47 , pp. 780-781
    • Chamoles, N.A.1    Blanco, M.2    Gaggioli, D.3    Casentini, C.4
  • 9
    • 0034970245 scopus 로고    scopus 로고
    • Fabry disease: Enzymatic diagnosis in dried blood spots on filter paper
    • N.A. Chamoles, M.B. Blanco, and D. Gaggioli Fabry disease: enzymatic diagnosis in dried blood spots on filter paper Clin Chim Acta 308 2001 195 196
    • (2001) Clin Chim Acta , vol.308 , pp. 195-196
    • Chamoles, N.A.1    Blanco, M.B.2    Gaggioli, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.