Tandem mass spectrometry-based multiplex assays for α-mannosidosis and fucosidosis.
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DOI: 10.1016/j.ymgme.2019.05.016
Abstract: 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… read more here.
Keywords: fucosidosis; mannosidosis fucosidosis; mass spectrometry; mannosidosis ... See more keywords