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Volumn 54, Issue 10, 2008, Pages 1725-1728

Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry

Author keywords

[No Author keywords available]

Indexed keywords

ENZYME;

EID: 54049125089     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2008.104711     Document Type: Article
Times cited : (164)

References (10)
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    • (2001) The metabolic and molecular bases of inherited disease
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    • Newborn screening for Pompe disease: Synthesis of the evidence and development of screening recommendations
    • Kemper AR, Hwu W-L, Lloyd-Puryear M, Kishnani PS. Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations. Pediatrics 2007;120:e1327-e34.
    • (2007) Pediatrics , vol.120
    • Kemper, A.R.1    Hwu, W.-L.2    Lloyd-Puryear, M.3    Kishnani, P.S.4
  • 4
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    • Niemann-Pick disease types A and B: Sphingomyelinase deficiencies
    • Scriver CR, Beaudet AL, Sly WS, Valle D, editors, 8th ed. New York NY, McGraw-Hill;
    • Schuchman EH, Desnick RJ. Niemann-Pick disease types A and B: sphingomyelinase deficiencies. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York (NY): McGraw-Hill; 2000:3589-610.
    • (2000) The metabolic and molecular bases of inherited disease , pp. 3589-3610
    • Schuchman, E.H.1    Desnick, R.J.2
  • 5
    • 0036629206 scopus 로고    scopus 로고
    • A fluorescence-based, high-throughput sphingomyelin assay for the analysis of Niemann-Pick disease and other disorders of sphingomyelin metabolism
    • He X, Chen F, McGovern MM, Schuchman EH. A fluorescence-based, high-throughput sphingomyelin assay for the analysis of Niemann-Pick disease and other disorders of sphingomyelin metabolism. Anal Biochem 2002;306:115-23.
    • (2002) Anal Biochem , vol.306 , pp. 115-123
    • He, X.1    Chen, F.2    McGovern, M.M.3    Schuchman, E.H.4
  • 6
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    • An enzymatic assay for quantifying sphingomyelin in tissue and plasma from humans and mice with Niemann-Pick disease
    • He X, Chen F, Gatt S, Schuchman EH. An enzymatic assay for quantifying sphingomyelin in tissue and plasma from humans and mice with Niemann-Pick disease. Anal Biochem 2001;293:204-11.
    • (2001) Anal Biochem , vol.293 , pp. 204-211
    • He, X.1    Chen, F.2    Gatt, S.3    Schuchman, E.H.4
  • 7
    • 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
  • 8
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    • Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots
    • Kallwass H, Carr C, Gerrein J, Titlow M, Pomponio R, Deeksha B, et al. Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots. Mol Genet Metab 2007;90:449-52.
    • (2007) Mol Genet Metab , vol.90 , pp. 449-452
    • Kallwass, H.1    Carr, C.2    Gerrein, J.3    Titlow, M.4    Pomponio, R.5    Deeksha, B.6
  • 9
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    • Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alphaglucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease
    • Zhang H, Kallwass H, Young SP, Carr C, Dai J, Kishnani PS, Millington DS, et al. Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alphaglucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease. Genet Med 2006;8:302-6.
    • (2006) Genet Med , vol.8 , pp. 302-306
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.