A Tandem Mass Spectrometry Triplex Assay for the Detection of Fabry, Pompe, and Mucopolysaccharidosis-I (Hurler)

BACKGROUND: We sought to develop a tandem mass spectrometry assay in which the enzymatic activities of 3 lysosomal enzymes (α-glucosidase, α-galactosidase A, and α-l-iduronidase) could be quantified in dried blood spots by using a single assay buffer. METHODS: A 3-mm dried blood spot punch was incub...

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Hlavní autoři: Duffey, Trisha A., Bellamy, Garland, Elliott, Susan, Fox, Angela C., Glass, Michael, Turecek, Frantisek, Gelb, Michael H., Scott, C. Ronald
Médium: Artigo
Jazyk:Inglês
Vydáno: 2010
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3442157/
https://ncbi.nlm.nih.gov/pubmed/20940330
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1373/clinchem.2010.152009
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