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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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Detalhes bibliográficos
Publicado no:Mol Genet Metab
Main Authors: Kumar, Arun Babu, Hong, Xinying, Yi, Fan, Wood, Tim, Gelb, Michael H
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
Assuntos:
Acesso em linha: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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