Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial.
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DOI: 10.1016/j.ymgme.2018.10.006
Abstract: BACKGROUND Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA) is a lysosomal disorder wherein deficient heparan-N-sulfatase (HNS) activity results in the accumulation of heparan sulfate in the central nervous system and is associated with progressive neurodegeneration… read more here.
Keywords: trial; syndrome type; heparan sulfatase; sanfilippo syndrome ... See more keywords