×
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
Mucopolysaccharidosis III
0.890
CausalMutation
CLINVAR
Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia.
24875751 2014
×
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
Mucopolysaccharidosis III
0.890
CausalMutation
CLINVAR
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
22976768 2013
×
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
Mucopolysaccharidosis III
0.890
CausalMutation
CLINVAR
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.
21204211 2011
×
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
Mucopolysaccharidosis III
0.890
CausalMutation
CLINVAR
Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.
21671382 2011
×
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
Mucopolysaccharidosis III
0.890
CausalMutation
CLINVAR
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.
21061399 2010
×
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
Mucopolysaccharidosis III
0.890
CausalMutation
CLINVAR
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
18407553 2008
×
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
Mucopolysaccharidosis III
0.890
CausalMutation
CLINVAR
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.
15146460 2004
×
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
Mucopolysaccharidosis III
0.890
CausalMutation
CLINVAR
Expression and functional characterization of human mutant sulfamidase in insect cells.
15542396 2004
×
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
Mucopolysaccharidosis III
0.890
CausalMutation
CLINVAR
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.
11668611 2001
×
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
Mucopolysaccharidosis III
0.890
CausalMutation
CLINVAR
Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.
11343308 2001
×
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
Mucopolysaccharidosis III
0.890
CausalMutation
CLINVAR
Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.
11182930 2000
×
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
Mucopolysaccharidosis III
0.890
CausalMutation
CLINVAR
Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands.
9700599 1998
×
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
Mucopolysaccharidosis III
0.890
CausalMutation
CLINVAR
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.
9554748 1998
×
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
Mucopolysaccharidosis III
0.890
CausalMutation
CLINVAR
Molecular defects in Sanfilippo syndrome type A.
9158154 1997
×
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
Mucopolysaccharidosis III
0.890
CausalMutation
CLINVAR
Novel mutations in Sanfilippo A syndrome: implications for enzyme function.
9285796 1997
×
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
Mucopolysaccharidosis III
0.890
CausalMutation
CLINVAR
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).
9401012 1997
×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
Mucopolysaccharidosis III
0.850
CausalMutation
CLINVAR
Mucopolysaccharidosis type IIIB mutations in Chinese patients: identification of two novel NAGLU mutations and analysis of two cases involving prenatal diagnosis.
23380547 2013
×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
Mucopolysaccharidosis III
0.850
CausalMutation
CLINVAR
Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.
9950362 1999
×
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
Mucopolysaccharidosis III
0.800
CausalMutation
CLINVAR
Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases.
26287674 2015
×
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
Mucopolysaccharidosis III
0.800
CausalMutation
CLINVAR
Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.
20825431 2011
×
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
Mucopolysaccharidosis III
0.800
CausalMutation
CLINVAR
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).
20583299 2010
×
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
Mucopolysaccharidosis III
0.800
CausalMutation
CLINVAR
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.
19823584 2009
×
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
Mucopolysaccharidosis III
0.800
CausalMutation
CLINVAR
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.
19479962 2009
×
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
Mucopolysaccharidosis III
0.800
CausalMutation
CLINVAR
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.
18024218 2008
×
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
Mucopolysaccharidosis III
0.800
CausalMutation
CLINVAR
Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene.
18518886 2008