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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Detalles Bibliográficos
Autores principales: Gelb, Michael H., Lukacs, Zoltan, Ranieri, Enzo, Schielen, Peter C. J. I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6448570/
https://www.ncbi.nlm.nih.gov/pubmed/30957052
http://dx.doi.org/10.3390/ijns5010001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6448570/
https://www.ncbi.nlm.nih.gov/pubmed/30957052
http://dx.doi.org/10.3390/ijns5010001

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