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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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| Główni autorzy: | , , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
2012
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| Hasła przedmiotowe: | |
| Dostęp 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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