Condition: Mucopolysaccharidosis III


rs1563366896 in HGSNAT gene and Mucopolysaccharidosis III PMID 18024218 2008 Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

PMID 26287674 2015 Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases.

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

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

PMID 18518886 2008 Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene.

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

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

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

rs104894598 in NAGLU gene and Mucopolysaccharidosis III PMID 23380547 2013 Mucopolysaccharidosis type IIIB mutations in Chinese patients: identification of two novel NAGLU mutations and analysis of two cases involving prenatal diagnosis.

PMID 9950362 1999 Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.

rs104894635 in SGSH gene and Mucopolysaccharidosis III PMID 9158154 1997 Molecular defects in Sanfilippo syndrome type A.

PMID 9700599 1998 Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands.

PMID 15542396 2004 Expression and functional characterization of human mutant sulfamidase in insect cells.

PMID 9554748 1998 Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.

PMID 21061399 2010 Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

PMID 18407553 2008 The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).

PMID 15146460 2004 Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.

PMID 9401012 1997 Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).

PMID 21671382 2011 Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.

PMID 22976768 2013 Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

PMID 21204211 2011 Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.

PMID 11182930 2000 Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.

PMID 11668611 2001 Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.

PMID 24875751 2014 Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia.

PMID 9285796 1997 Novel mutations in Sanfilippo A syndrome: implications for enzyme function.

PMID 11343308 2001 Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.