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

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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Bibliographic Details
Main Authors: Michael H. Gelb, Zoltan Lukacs, Enzo Ranieri, Peter C. J. I. Schielen
Format: Article
Language:English
Published: MDPI AG 2018-12-01
Series:International Journal of Neonatal Screening
Subjects:
newborn screening
lysosomal storage diseases
cutoff values
tandem mass spectrometry
diagnosis
dried blood spots
enzymatic activity assays
Online Access:http://www.mdpi.com/2409-515X/5/1/1

Internet

http://www.mdpi.com/2409-515X/5/1/1

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