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Volumn 32, Issue 5, 2012, Pages 319-323

Analysis of acid sphingomyelinase activity in dried blood spots using tandem mass spectrometry

Author keywords

Acid sphingomyelinase; Dried blood spot; Lysosomal enzyme; Tandem mass spectrometry

Indexed keywords


EID: 84865956004     PISSN: 22343806     EISSN: 22343814     Source Type: Journal    
DOI: 10.3343/alm.2012.32.5.319     Document Type: Article
Times cited : (17)

References (8)
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    • Schuchman EH and Desnick RJ. Niemann-Pick Disease Types A and B: acid sphingomyelinase defciencies. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B, eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill, 2001:3589-610.
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  • 2
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    • The demographics and distribution of type B Niemann-Pick disease: Novel mutations lead to new genotype/phenotype correlations
    • DOI 10.1086/345074
    • Simonaro CM, Desnick RJ, McGovern MM, Wasserstein MP, Schuchman EH. The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. Am J Hum Genet 2002;71:1413-9. (Pubitemid 36015894)
    • (2002) American Journal of Human Genetics , vol.71 , Issue.6 , pp. 1413-1419
    • Simonaro, C.M.1    Desnick, R.J.2    McGovern, M.M.3    Wasserstein, M.P.4    Schuchman, E.H.5
  • 3
    • 77953019480 scopus 로고    scopus 로고
    • Niemann-Pick disease type C
    • Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis 2010;5:16.
    • (2010) Orphanet J Rare Dis , vol.5 , pp. 16
    • Vanier, M.T.1
  • 4
    • 77649223760 scopus 로고    scopus 로고
    • The pathogenesis and treatment of acid sphingomyelinase-defcient Niemann-Pick disease
    • Schuchman EH. The pathogenesis and treatment of acid sphingomyelinase- defcient Niemann-Pick disease. Int J Clin Pharmacol Ther 2009;47(S1):S48-57.
    • (2009) Int J Clin Pharmacol Ther , vol.47 , Issue.S1
    • Schuchman, E.H.1
  • 5
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    • A fluorescence-based, high-performance liquid chromatographic assay to determine acid sphingomyelinase activity and diagnose types A and B Niemann-Pick disease
    • DOI 10.1016/S0003-2697(02)00629-2
    • He X, Chen F, Dagan A, Gatt S, Schuchman EH. A fuorescence-based, high-performance liquid chromatographic assay to determine acid sphingomyelinase activity and diagnose types A and B Niemann-Pick disease. Anal Biochem 2003;314:116-20. (Pubitemid 36299026)
    • (2003) Analytical Biochemistry , vol.314 , Issue.1 , pp. 116-120
    • He, X.1    Chen, F.2    Dagan, A.3    Gatt, S.4    Schuchman, E.H.5
  • 6
    • 33745108808 scopus 로고    scopus 로고
    • Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders
    • DOI 10.1007/s10545-006-0265-4
    • Gelb MH, Turecek F, Scott CR, Chamoles NA. Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. J Inherit Metab Dis 2006;29:397-404. (Pubitemid 43880641)
    • (2006) Journal of Inherited Metabolic Disease , vol.29 , Issue.2-3 , pp. 397-404
    • Gelb, M.H.1    Turecek, F.2    Scott, C.R.3    Chamoles, N.A.4
  • 7
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    • Neonatal screening for lysosomal storage disorders: Feasibility and incidence from a nationwide study in Austria
    • Mechtler T P, Stary S, Metz TF, De Jesüs VR, Greber-Platzer S, Pollak A, et al. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet 2012;379:335-41.
    • (2012) Lancet , vol.379 , pp. 335-341
    • Mechtler, T.P.1    Stary, S.2    Metz, T.F.3    De Jesüs, V.R.4    Greber-Platzer, S.5    Pollak, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.