Cystathionine β-synthase deficiency:: Diagnosis and early management of patients detected by tandem mass spectrometry newborn screening

被引:0
|
作者
Wilcken, B.
Martin, A.
McGill, J. J.
Peters, H.
机构
[1] Child Hosp Westmead, Sydney, NSW, Australia
[2] Princess Margaret Hosp, Perth, WA, Australia
[3] Royal Child Hosp, Brisbane, Qld, Australia
[4] Royal Child Hosp, Melbourne, Vic, Australia
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:7 / 7
页数:1
相关论文
共 50 条
  • [31] Tandem mass spectrometry and newborn screening: Pilot data and review
    Filiano, JJ
    Bellimer, SG
    Kunz, PL
    [J]. PEDIATRIC NEUROLOGY, 2002, 26 (03) : 201 - 204
  • [32] Newborn screening for mucopolysaccharidoses by GAG assay with tandem mass spectrometry
    Tomatsu, Shunji
    Kubaski, Francyne
    Mason, Robert W.
    Giugliani, Roberto
    Yamaguchi, Seiji
    Suzuki, Yasuyuki
    [J]. MOLECULAR GENETICS AND METABOLISM, 2018, 123 (02) : S139 - S139
  • [33] Economic Evaluation of Tandem Mass Spectrometry Newborn Screening in Australia
    Norman, Richard
    Haas, Marion
    Chaplin, Meredyth
    Joy, Pamela
    Wilcken, Bridget
    [J]. PEDIATRICS, 2009, 123 (02) : 451 - 457
  • [34] Application of tandem mass spectrometry to biochemical genetics and newborn screening
    Carpenter, KH
    Wiley, V
    [J]. CLINICA CHIMICA ACTA, 2002, 322 (1-2) : 1 - 10
  • [35] Newborn screening by tandem mass spectrometry - Ethical and social issues
    Avard, Denise
    Vallance, Hilary
    Greenberg, Cheryl
    Potter, Beth
    [J]. CANADIAN JOURNAL OF PUBLIC HEALTH-REVUE CANADIENNE DE SANTE PUBLIQUE, 2007, 98 (04): : 284 - 286
  • [36] METHYLESTERIFICATION OF GLUTARYLCARNITINE AFFECTING NEWBORN SCREENING BY TANDEM MASS SPECTROMETRY
    Maeda, Y.
    Ito, T.
    Nakayama, H.
    Nakajima, Y.
    Kurono, Y.
    Togari, H.
    Sugiyama, N.
    [J]. MOLECULAR GENETICS AND METABOLISM, 2009, 98 (1-2) : 104 - 104
  • [37] Tandem Mass Spectrometry in Newborn Screening: CLSI Solves the Puzzle
    Hoffman, Gary L.
    [J]. LABMEDICINE, 2010, 41 (10): : 628 - 629
  • [38] Newborn screening for mucopolysaccharidoses by GAG assay with tandem mass spectrometry
    Tomatsu, Shunji
    Stapleton, Molly
    Mason, Robert
    [J]. MOLECULAR GENETICS AND METABOLISM, 2019, 126 (02) : S145 - S145
  • [39] NEWBORN SCREENING BY TANDEM MASS SPECTROMETRY: HARMONIZATION OF PRACTICE AND PERFORMANCE
    Mei, J. V.
    Meredith, N. K.
    Bell, C. J.
    De Jesus, V. R.
    Lim, T. H.
    Adam, B. W.
    Hannon, W. H.
    [J]. MOLECULAR GENETICS AND METABOLISM, 2009, 98 (1-2) : 119 - 119
  • [40] Newborn screening by tandem mass spectrometry (MS-MS)
    Sweetman, L
    [J]. CLINICAL CHEMISTRY, 1996, 42 (03) : 345 - 346