Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis I

BACKGROUND: Treatments now available for Mucopolysaccharidosis I require early detection for optimum therapy. Therefore, we have developed an assay appropriate for newborn screening of the activity of the relevant enzyme, α-l-iduronidase. METHODS: We synthesized a new α-l-iduronidase substrate that...

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Hlavní autoři: Blanchard, Sophie, Sadilek, Martin, Scott, C. Ronald, Turecek, Frantisek, Gelb, Michael H.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2008
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2891177/
https://ncbi.nlm.nih.gov/pubmed/19042989
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