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Tandem Mass Spectrometry-Based Multiplex Assays for α-Mannosidosis and Fucosidosis
Multiplex tandem mass spectrometry (MS/MS)-based enzyme activity assays for newborn screening (NBS) and diagnosis of lysosomal storage diseases (LSDs) in newborns, using dried blood spots (DBS) on newborn screening cards, have garnered much attention due to its sensitivity, high precision, and the c...
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| Pubblicato in: | Mol Genet Metab |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2019
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6710107/ https://ncbi.nlm.nih.gov/pubmed/31235216 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2019.05.016 |
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