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Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy

  • Peter J Meikle
  • , Enzo Ranieri
  • , Henrik Simonsen
  • , Tina Rozaklis
  • , Steve L Ramsay
  • , Maria Fuller
  • , Ernst Christensen
  • , Flemming Skovby
  • , John J Hopwood
  • , Phil Whitfield

科研成果: Article同行评审

107 引用 (Scopus)

摘要

To evaluate the use of protein markers using immune-quantification assays and of metabolite markers using tandem mass spectrometry for the identification, at birth, of individuals who have a lysosomal storage disorder.
源语言English
页(从-至)909-16
页数8
期刊Pediatrics
114
4
DOI
出版状态Published - 10月 2004

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