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

Research output: Contribution to journalArticlepeer-review

85 Citations (Scopus)

Abstract

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.
Original languageEnglish
Pages (from-to)909-16
Number of pages8
JournalPediatrics
Volume114
Issue number4
DOIs
Publication statusPublished - Oct 2004

Keywords

  • Antibodies, Monoclonal
  • Antigens, CD
  • Biological Markers
  • Glycosphingolipids
  • Humans
  • Infant, Newborn
  • Lysosomal Storage Diseases
  • Lysosome-Associated Membrane Glycoproteins
  • Mass Spectrometry
  • Neonatal Screening
  • Oligosaccharides
  • Retrospective Studies
  • Saposins
  • Sensitivity and Specificity

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