Associated Papers
Structure of the human heparan-α-glucosaminide N-acetyltransferase (HGSNAT).
Navratna V et al.
Biorxiv : the Preprint Server for Biology, 2024
NONSYNDROMIC RETINITIS PIGMENTOSA WITH BILATERAL RETINAL NEOVASCULARIZATION DUE TO HGSNAT MUTATION.
Carrera W et al.
Retinal Cases & Brief Reports, 2023
Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease.
Martins C et al.
Human Mutation, 2019
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
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.
Fedele AO et al.
Human Mutation, 2007
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