2-Naphthol-1,3,4,5,6,7,8-d7

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).