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

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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

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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

Cite this

Meikle, P. J., Ranieri, E., Simonsen, H., Rozaklis, T., Ramsay, S. L., Fuller, M., ... Whitfield, P. (2004). Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy. Pediatrics, 114(4), 909-16. https://doi.org/10.1542/peds.2004-0583