Sanfilippo Syndrome Type C: Mutation Spectrum in the Heparan Sulfate Acetyl-CoA: alpha-Glucosaminide N-Acetyltransferase (HGSNAT) Gene

Abstract

The article describes all known human alpha-Glucosaminide N-Acecyltransferase (HGSNAT) mutations identified in patients with mucoplysaccharidosis type IIIC.

Keywords

• MPS IIIC
• Sanfilippo syndrome type C
• HGSNAT
• N-acetyltransferase
• lysosome
• heparan sulfate
• mucopolysaccharidosis
• mutation analysis