Associated Papers
Structure of the human heparan-α-glucosaminide N-acetyltransferase (HGSNAT).
Navratna V et al.
Biorxiv : the Preprint Server for Biology, 2024
Epidemiology of Mucopolysaccharidoses Update.
Çelik B et al.
Diagnostics (basel, Switzerland), 2021
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).
Fedele AO et al.
Human Mutation, 2010
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.
Feldhammer M et al.
Plos One, 2009
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.
Feldhammer M et al.
Human Mutation, 2009
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