Condition: MPS III C


rs1057518644 in HGSNAT gene and MPS III C PMID 27733599 2017 Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia.

PMID 17397050 2007 Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.

PMID 19479962 2009 Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.

PMID 20583299 2010 Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).

PMID 19823584 2009 Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.

PMID 18024218 2008 Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

PMID 20825431 2011 Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.

PMID 17033958 2006 Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 16960811 2006 Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C).

PMID 24767253 2014 Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

PMID 25491247 2014 Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations.

PMID 23301227 2013 The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation.

PMID 25859010 2015 Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).