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Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry

Yi F, Hong X, Kumar A B, et al

Molecular genetics and metabolism, 2018, 125(1-2): 59-63

With ongoing efforts to develop improved treatments for Sanfilippo Syndrome Type A (MPS-IIIA), a disease caused by the inability to degrade heparan sulfate in lysosomes, we sought to develop an enzymatic activity assay for the relevant enzyme, sulfamidase, that uses dried blood spots (DBS).

Chemicals Related in the Paper:

Catalog Number Product Name Structure CAS Number Price
ACM78832549 2-Naphthol-1,3,4,5,6,7,8-d7 2-Naphthol-1,3,4,5,6,7,8-d7 78832-54-9 Price

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