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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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Publicado en:Mol Genet Metab
Autores principales: Kumar, Arun Babu, Hong, Xinying, Yi, Fan, Wood, Tim, Gelb, Michael H
Formato: Artigo
Lenguaje:Inglês
Publicado: 2019
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Acceso en línea: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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