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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Principais autores:	Michael H. Gelb, Zoltan Lukacs, Enzo Ranieri, Peter C. J. I. Schielen
Formato:	Artigo
Idioma:	Inglês
Publicado em:	MDPI AG 2018-12-01
coleção:	International Journal of Neonatal Screening
Assuntos:	newborn screening lysosomal storage diseases cutoff values tandem mass spectrometry diagnosis dried blood spots enzymatic activity assays
Acesso em linha:	http://www.mdpi.com/2409-515X/5/1/1
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