Condition: Mucopolysaccharidosis Type IIIA
rs1046551417 in
SGSH gene and
Mucopolysaccharidosis Type IIIA
PMID 11182930 2000 Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.
PMID 27590925 2016 A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design.
PMID 21061399 2010 Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.
PMID 22976788 2012 Response to subspecialty training in preventive cardiology: the current status and discoverable fellowship programs.
PMID 24816101 2014 Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.
PMID 26648750 2015 Sanfilippo syndrome: causes, consequences, and treatments.
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 9158154 1997 Molecular defects in Sanfilippo syndrome type A.
PMID 9700599 1998 Of 39 patients, for whom we have uniform clinical details, 13 MPS IIIA patients who were homozygous for this common mutation had a more uniform but severe clinical phenotype than the remaining 21 or 5 patients, containing respectively one or no R245H alleles.
PMID 26787381 2016 A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA.
PMID 26331342 2016 Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene.
PMID 9285796 1997 Novel mutations in Sanfilippo A syndrome: implications for enzyme function.
PMID 17128482 2006 Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA.
PMID 28101780 2017 Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.
PMID 9744479 1998 Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.
PMID 9554748 1998 Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.
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 9401012 1997 As the combined frequency of the common mutations (R74C and R245H) in German and Polish populations exceeds 55%, screening for these two mutations will assist molecular genetic diagnosis of MPS IIIA and allow heterozygote testing in these populations.
PMID 16311287 2006 Strategies and clinical outcome of 250 cycles of Preimplantation Genetic Diagnosis for single gene disorders.
PMID 12000360 2002 Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA).
PMID 11793481 2002 Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.
PMID 10601282 1999 Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome.
PMID 15146460 2004 Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.
PMID 15902564 2005 Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene.
PMID 11343308 2001 Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.
PMID 15637719 2005 An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.
PMID 12702166 2003 Analysis of Sanfilippo A gene mutations in a large pedigree.
PMID 15146460 2004 We report here on expression studies of four novel mutations: c.318C>A (p.Ser106Arg), c.488T>C (p.Leu163Pro), c.571G>A (p.Gly191Arg), and c.1207_1209delTAC (p.Tyr403del), and five previously known mutations: c.220C>T (p.Arg74Cys), c.697C>T (p.Arg233X), c.1297C>T (p.Arg433Trp), c.1026dupC (p.Leu343fsX158), and c.1135delG (p.Val379fsX33) identified in MPSIIIA patients.
PMID 15542396 2004 Expression and functional characterization of human mutant sulfamidase in insect cells.
PMID 9401012 1997 As the combined frequency of the common mutations (R74C and R245H) in German and Polish populations exceeds 55%, screening for these two mutations will assist molecular genetic diagnosis of MPS IIIA and allow heterozygote testing in these populations.
PMID 24314109 2013 Natural history of Sanfilippo syndrome in Spain.
PMID 28844463 2017 Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series.
PMID 9401012 1997 Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).
PMID 10727844 2000 Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects.
PMID 11668611 2001 Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.
PMID 21204211 2011 Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.
PMID 24347096 2014 Treatment effect of coenzyme Q(10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease.
PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.
PMID 19099774 2008 [Postnatal and prenatal diagnosis of mucopolysaccharidosis type III (Sanfilippo syndrome)].
PMID 12702166 2003 This study places R433Q as a severe mutation underlying Sanfilippo A disease.
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 21671382 2011 The ability to predict the clinical course of MPS IIIA in patients with the p.Ser298Pro mutation, as well as the residual enzymatic activity, and the reduced stability of the mutant sulfamidase suggest that this subgroup of patients is especially well suited to early sulfamidase replacement therapy or treatment with selective pharmacological chaperones.
PMID 29023963 2017 Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.
PMID 25807448 2015 A multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo syndrome).
PMID 23084433 2012 Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III.
PMID 15146460 2004 We report here on expression studies of four novel mutations: c.318C>A (p.Ser106Arg), c.488T>C (p.Leu163Pro), c.571G>A (p.Gly191Arg), and c.1207_1209delTAC (p.Tyr403del), and five previously known mutations: c.220C>T (p.Arg74Cys), c.697C>T (p.Arg233X), c.1297C>T (p.Arg433Trp), c.1026dupC (p.Leu343fsX158), and c.1135delG (p.Val379fsX33) identified in MPSIIIA patients.
PMID 21963080 2011 Carotid intima-media thickness is increased in patients with mucopolysaccharidoses.
PMID 7493035 1995 Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome.
PMID 15146460 2004 We report here on expression studies of four novel mutations: c.318C>A (p.Ser106Arg), c.488T>C (p.Leu163Pro), c.571G>A (p.Gly191Arg), and c.1207_1209delTAC (p.Tyr403del), and five previously known mutations: c.220C>T (p.Arg74Cys), c.697C>T (p.Arg233X), c.1297C>T (p.Arg433Trp), c.1026dupC (p.Leu343fsX158), and c.1135delG (p.Val379fsX33) identified in MPSIIIA patients.
PMID 24875751 2014 Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia.
PMID 25557439 2015 Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses.
PMID 22002444 2012 Unfolded protein response is not activated in the mucopolysaccharidoses but protein disulfide isomerase 5 is deregulated.
PMID 11903343 2001 The frequency of common mutations among patients with mucopolysaccharidosis types I, II and IIIA diagnosed in Austria over the last 17 years.
PMID 19383612 2009 Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiology.
PMID 21910976 2011 Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients.
PMID 21455105 2011 Two-year follow-up of Sanfilippo Disease patients treated with a genistein-rich isoflavone extract: assessment of effects on cognitive functions and general status of patients.
PMID 21393040 2011 Combined Hurler and Sanfilippo syndrome in a sibling pair.
PMID 15146460 2004 We report here on expression studies of four novel mutations: c.318C>A (p.Ser106Arg), c.488T>C (p.Leu163Pro), c.571G>A (p.Gly191Arg), and c.1207_1209delTAC (p.Tyr403del), and five previously known mutations: c.220C>T (p.Arg74Cys), c.697C>T (p.Arg233X), c.1297C>T (p.Arg433Trp), c.1026dupC (p.Leu343fsX158), and c.1135delG (p.Val379fsX33) identified in MPSIIIA patients.
PMID 25113300 2014 Tachypnea of infancy as the first sign of Sanfilippo syndrome.
rs1488660868 in
SGSH;SLC26A11 gene and
Mucopolysaccharidosis Type IIIA
PMID 21910976 2011 Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients.
rs1250300189 in
SLC26A11;SGSH gene and
Mucopolysaccharidosis Type IIIA
PMID 22976768 2013 Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
PMID 24816101 2014 Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.