Newborn Screening for Lysosomal Storage Disorders: Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots

All worldwide newborn screening (NBS) for lysosomal storage diseases (LSDs) is performed as a first-tier test by measurement of lysosomal enzymatic activities in dried blood spots (DBS). The currently two available methodologies used for measurement of enzymatic activities are tandem mass spectromet...

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Foilsithe in:Int J Neonatal Screen
Main Authors: Gelb, Michael H., Lukacs, Zoltan, Ranieri, Enzo, Schielen, Peter C. J. I.
Formáid: Artigo
Teanga:Inglês
Foilsithe: MDPI 2018
Ábhair:
Review
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6448570/
https://ncbi.nlm.nih.gov/pubmed/30957052
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns5010001
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