New Substrates and Enzyme Assays for the Detection of Mucopolysaccharidosis III (Sanfilippo Syndrome) Types A, B, C and D by Tandem Mass Spectrometry

The clinical phenotype of Sanfilippo Syndrome is caused by one of four enzyme deficiencies that are associated with a defect in mucopolysaccharide metabolism. The four subtypes (A, B, C, and D) are each caused by an enzyme deficiency involved in the degradation of heparan sulfate. We have developed...

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Autori principali: Wolfe, Brian J., Ghomashchi, Farideh, Kim, Tim, Abam, Cynthia A., Sadilek, Martin, Jack, Rhona, Thompson, Jerry N., Scott, C. Ronald, Gelb, Michael H., Turecek, Frantisek
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2012
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3310265/
https://ncbi.nlm.nih.gov/pubmed/22372747
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1021/bc200609x
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