메뉴 건너뛰기




Volumn 28, Issue 8, 2014, Pages 1131-1139

A column-switching HPLC-MS/MS method for mucopolysaccharidosis type I analysis in a multiplex assay for the simultaneous newborn screening of six lysosomal storage disorders

Author keywords

Column switching HPLC MS; Dried blood spot; Lysosomal storage disorders; MPS I; Newborn screening

Indexed keywords

BLOOD; DIAGNOSIS; ENZYME ACTIVITY; SCREENING;

EID: 84904468893     PISSN: 02693879     EISSN: 10990801     Source Type: Journal    
DOI: 10.1002/bmc.3133     Document Type: Article
Times cited : (12)

References (16)
  • 1
    • 79955814605 scopus 로고    scopus 로고
    • The preparation and storage of dried-blood spot quality control materials for lysosomal storage disease screening tests
    • Adam BW, Orsini JJ Jr, Martin M, Hall EM, Zobel SD, Caggana M and Hannon WH. The preparation and storage of dried-blood spot quality control materials for lysosomal storage disease screening tests. Clinical Biochemistry 2011; 44(8-9): 704-710.
    • (2011) Clinical Biochemistry , vol.44 , Issue.8-9 , pp. 704-710
    • Adam, B.W.1    Orsini Jr, J.J.2    Martin, M.3    Hall, E.M.4    Zobel, S.D.5    Caggana, M.6    Hannon, W.H.7
  • 2
    • 54049092492 scopus 로고    scopus 로고
    • Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry
    • Dajnoki A, Muhl A, Fekete G, Keutzer J, Orsini J, Dejesus V, Zhang XK and Bodamer OA. Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry. Clinical Chemistry 2008; 54(10): 1624-1629.
    • (2008) Clinical Chemistry , vol.54 , Issue.10 , pp. 1624-1629
    • Dajnoki, A.1    Muhl, A.2    Fekete, G.3    Keutzer, J.4    Orsini, J.5    Dejesus, V.6    Zhang, X.K.7    Bodamer, O.A.8
  • 3
    • 78449270842 scopus 로고    scopus 로고
    • Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
    • Duffey TA, Sadilek M, Scott CR, Turecek F and Gelb MH. Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Analytical Chemistry 2010; 82(22): 9587-9591.
    • (2010) Analytical Chemistry , vol.82 , Issue.22 , pp. 9587-9591
    • Duffey, T.A.1    Sadilek, M.2    Scott, C.R.3    Turecek, F.4    Gelb, M.H.5
  • 4
    • 84863229523 scopus 로고    scopus 로고
    • Use of tandem mass spectrometry for newborn screening of 6 lysosomal storage disorders in a Korean population
    • Han M, Jun SH, Song SH, Park KU, Kim JQ and Song J. Use of tandem mass spectrometry for newborn screening of 6 lysosomal storage disorders in a Korean population. Korean Journal of Laboratory Medicine 2011; 31(4): 250-256.
    • (2011) Korean Journal of Laboratory Medicine , vol.31 , Issue.4 , pp. 250-256
    • Han, M.1    Jun, S.H.2    Song, S.H.3    Park, K.U.4    Kim, J.Q.5    Song, J.6
  • 5
    • 77949645566 scopus 로고    scopus 로고
    • The application of multiplexed, multi-dimensional ultra-high-performance liquid chromatography/tandem mass spectrometry to the high-throughput screening of lysosomal storage disorders in newborn dried bloodspots
    • Kasper DC, Herman J, De Jesus VR, Mechtler TP, Metz TF and Shushan B. The application of multiplexed, multi-dimensional ultra-high-performance liquid chromatography/tandem mass spectrometry to the high-throughput screening of lysosomal storage disorders in newborn dried bloodspots. Rapid Communications in Mass Spectrometry 2010; 24(7): 986-994.
    • (2010) Rapid Communications in Mass Spectrometry , vol.24 , Issue.7 , pp. 986-994
    • Kasper, D.C.1    Herman, J.2    De Jesus, V.R.3    Mechtler, T.P.4    Metz, T.F.5    Shushan, B.6
  • 6
    • 68049098194 scopus 로고    scopus 로고
    • New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry
    • La Marca G, Casetta B, Malvagia S, Guerrini R and Zammarchi E. New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry. Analytical Chemistry 2009; 81(15): 6113-6121.
    • (2009) Analytical Chemistry , vol.81 , Issue.15 , pp. 6113-6121
    • La Marca, G.1    Casetta, B.2    Malvagia, S.3    Guerrini, R.4    Zammarchi, E.5
  • 15
    • 17744388985 scopus 로고    scopus 로고
    • Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns
    • Wang D, Eadala B, Sadilek M, Chamoles NA, Turecek F, Scott CR and Gelb MH. Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns. Clinical Chemistry 2005; 51(5): 898-900.
    • (2005) Clinical Chemistry , vol.51 , Issue.5 , pp. 898-900
    • Wang, D.1    Eadala, B.2    Sadilek, M.3    Chamoles, N.A.4    Turecek, F.5    Scott, C.R.6    Gelb, M.H.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.