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 language | English |
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Pages (from-to) | 909-16 |
Number of pages | 8 |
Journal | Pediatrics |
Volume | 114 |
Issue number | 4 |
DOIs | |
Publication status | Published - 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