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Direct Multiplex Assay of Lysosomal Enzymes in Dried Blood Spots for Newborn Screening
BACKGROUND: Newborn screening for deficiency in the lysosomal enzymes that cause Fabry, Gaucher, Krabbe, Niemann–Pick A/B, and Pompe diseases is warranted because treatment for these syndromes is now available or anticipated in the near feature. We describe a multiplex screening method for all five...
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| Auteurs principaux: | , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2004
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3428798/ https://ncbi.nlm.nih.gov/pubmed/15292070 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1373/clinchem.2004.035907 |
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