|1.||Mucopolysaccharidosis III (Sanfilippo Syndrome)
|2.||Mucopolysaccharidosis IV (Morquio Syndrome)
|3.||Mucopolysaccharidosis VII (Sly Syndrome)
|5.||Lysosomal Storage Diseases (Lysosomal Storage Disease)
|1.||Sanberg, Paul R: 7 articles (01/2014 - 12/2003)|
|2.||Garbuzova-Davis, Svitlana: 6 articles (01/2011 - 12/2003)|
|3.||Willing, Alison E: 5 articles (01/2014 - 12/2003)|
|4.||Pshezhetsky, Alexey V: 4 articles (02/2015 - 01/2009)|
|5.||Hopwood, John J: 4 articles (01/2010 - 11/2004)|
|6.||Heard, Jean Michel: 3 articles (02/2015 - 11/2004)|
|7.||Ohmi, Kazuhiro: 3 articles (02/2015 - 04/2007)|
|8.||Heldermon, Coy D: 3 articles (09/2014 - 01/2007)|
|9.||Giugliani, Roberto: 3 articles (09/2014 - 05/2010)|
|10.||Neufeld, Elizabeth F: 3 articles (01/2011 - 07/2002)|
12/07/1999 - "The phenotype of the alpha-N-acetylglucosaminidase-deficient mice is sufficiently similar to that of patients with the Sanfilippo syndrome type B to make these mice a good model for study of pathophysiology and for development of therapy."
05/01/2010 - "Over 100 different mutations in the NAGLU gene have been identified in Sanfilippo syndrome type B patients; however, no large deletions have been reported. "
07/01/2009 - "Our results demonstrate the advantages of intravenously administering hUCB cells into a mouse model of Sanfilippo Syndrome type B, the advantages probably a result of Naglu delivery to enzyme-deficient organs."
01/01/2008 - "These data demonstrated the essential function in Arabidopsis consistent with the contribution of NAGLU to the Sanfilippo syndrome in human. "
11/10/2004 - "We observed relevant behaviors in the mouse model of Sanfilippo syndrome type B (MPSIIIB), in which the gene coding for alpha-N-acetylglucosaminidase (NaGlu) is invalidated. "
01/01/2012 - "21 patients were included: 7 in Group 1 (MPS II: 3, MPS III-B: 2, MPS IV-A: 2), 6 in Group 2 (MPS I: 3; MPS VI: 3), and 8 in Group 3 (MPS I: 3, MPS II: 4, MPS VI: 1). "
05/01/2010 - "ERT radically changed the setting for treatment of mucopolysaccharidosis I, II and VI in the last decade., Benefits can even be extended soon to MPS IV A (ERT for this condition is already in clinical development), with prediction for treatment of MPS III A and the cognitive deficit in MPS II by administration of the enzyme directly into the central nervous system (CNS). "
12/01/1997 - "An incidence of approximately 1 in 76,000 live births was obtained for MPS 1H (Hurler phenotype); 1 in 280,000 for MPS 1 H/S (Hurler/Scheie phenotype); 1 in 140,000 live births (1 in 72,000 male live births) for MPS II (Hunter syndrome); 1 in 280,000 for MPS III (Sanfilippo syndrome) and 1 in 76,000 for MPS IV A (Morquio syndrome type A). "
01/01/2005 - "The cumulative incidence for MPS II (Hunter syndrome) was estimated as 0.64 cases per 100,000 births (1.3 cases per 100,000 male live births); that for MPS III (Sanfilippo syndrome types A, B and C) as 1.57 cases in 100,000 births; that for MPS IV A (Morquio syndrome) as 0.38 cases in 100,000; and that for MPS VI (Maroteaux-Lamy syndrome) as 0.23 cases per 100,000 births. "
12/15/2003 - "An incidence of approximately 1 in 107,000 live births was obtained for MPS IH (Hurler phenotype); 1 in 320,000 live births (1 in 165,000 male live births) for MPS II (Hunter Syndrome); 1 in 58,000 for MPS III (Sanfilippo Syndrome); 1 in 640,000 for MPS IVA (Morquio Syndrome type A), and 1 in 320,000 for MPS VI (Maroteaux-Lamy Syndrome). "
04/01/2008 - "The aim of this study was to examine urinary GAG concentration, hair morphology, and cognitive function in patients receiving genistin treatment for Sanfilippo syndrome (MPS type III). "
04/01/2008 - "This pilot study found some improvements in GAG concentration, hair morphology, and cognitive function in these pediatric patients with Sanfilippo syndrome treated with genistin-rich soy isoflavone extract for 1 year. "
04/01/2008 - "Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: An open-label, pilot study in 10 pediatric patients."
|4.||Heparitin Sulfate (Heparan Sulfate)IBA
01/01/2015 - "Sanfilippo syndrome is a rare lysosomal storage disorder caused by an impaired degradation of heparan sulfate (HS). "
01/01/2015 - "Crosstalk between 2 organelles: Lysosomal storage of heparan sulfate causes mitochondrial defects and neuronal death in mucopolysaccharidosis III type C."
03/01/2013 - "Sanfilippo disease (Mucopolysaccharidosis III) is a neurodegenerative lysosomal disorder characterized by accumulation of the glycosaminoglycan heparan sulfate (HS). "
11/01/1984 - "Fractionation and characterization of urinary heparan sulfate excreted by patients with Sanfilippo syndrome."
10/15/1974 - "[Characteristics of urinary heparan sulfate in 5 cases of Sanfilippo's syndrome]."
|5.||N-sulfoglucosamine sulfohydrolase (sulfamidase)IBA
01/01/2010 - "These diseases exhibit widespread pathology yet result from a single gene deficiency, in the case of Sanfilippo syndrome the lysosomal enzyme sulfamidase. "
01/01/2001 - "This spontaneous mouse mutant is an excellent model for MPS III A in humans as this disease often arises due to a missense mutation in lysosomal sulfamidase."
01/01/2001 - "We now show that the sulfamidase gene of the MPS III A mouse carries a novel mutation (G91A) that gives an amino acid change (D31N) likely to interfere with the coordination of a divalent metal ion in the active site of this sulfatase. "
01/01/2001 - "We have previously identified a mouse with low sulfamidase activity and symptoms and pathologies typical of MPS III A (Bhaumik, M., Muller, V. J., Rozaklis, T., Johnson, L., Dobrenis, K., Bhattacharyya, R., Wurzelmann, S., Finamore, P., Hopwood, J. "
01/01/2001 - "A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant."
07/01/2001 - "Deficiency of any one of these enzymes results in a single clinical phenotype known as Sanfilippo syndrome. "
03/01/2013 - "Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal storage disorder, caused by a deficiency in one of four enzymes involved in the catabolism of the glycosaminoglycan heparan sulphate. "
01/01/2013 - "Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of heparan sulphate. "
01/01/2007 - "Sanfilippo syndrome type D is an autosomal recessive lysosomal storage disease that is caused by a deficiency of N-acetylglucosamine-6-sulphatase, one of the enzymes involved in the catabolism of heparan sulphate. "
04/15/2001 - "These enzymes, when defective in affected children, lead to the lysosomal storage disease known as Sanfilippo syndrome. "
01/01/2015 - "Patients with Sanfilippo syndrome may have comparatively low urinary glycosaminoglycans levels resulting in false negative urinary assay. "
01/01/2014 - "Repeated biochemical testing at age 11 and 13 revealed increased levels of glycosaminoglycans confirming the diagnosis of Sanfilippo syndrome type A. "
01/01/1981 - "Sanfilippo B syndrome (MPS III B): case report with analysis of CSF mucopolysaccharides and conjunctival biopsy."
11/01/1977 - "The characterization of intracellularly stored glycosaminoglycans from organs of a patient suffering from mucopolysaccharidosis III A (Sanfilippo A disease) is described. "
11/01/1970 - "Brain glycosaminoglycans and glycosaminoglycan sulphotransferase in Sanfilippo syndrome."
01/01/2006 - "Based on mucopolysacchariduria and the deficiency of N-acetylglucosaminidase, the diagnosis of Sanfilippo syndrome type B was made. "
07/01/1972 - "Cultured skin fibroblasts from two patients with Sanfilippo syndrome, Type B were strikingly deficient in alpha-acetylglucosaminidase activity (alpha-2-acetamido-2-deoxy-D-glucoside acetamidodeoxyglucohydrolase, EC 3.2.1.X). "
07/01/1972 - "Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients."
01/01/2011 - "Sanfilippo syndrome type B (MPS IIIB) is characterized by profound mental retardation in childhood, dementia and death in late adolescence; it is caused by deficiency of α-N-acetylglucosaminidase and resulting lysosomal storage of heparan sulfate. "
01/01/2011 - "Sanfilippo syndrome type B (MPS III B) is caused by a deficiency of α-N-acetylglucosaminidase enzyme, leading to accumulation of heparan sulfate within lysosomes and eventual progressive cerebral and systemic multiple organ abnormalities. "
12/01/2010 - "Mucopolysaccharidosis type IIIB (MPS IIIB, Sanfilippo syndrome type B) is a lysosomal storage disorder caused by deficiency of the enzyme N-acetyl-α-D-glucosaminidase (NAGLU). "
05/01/2010 - "Sanfilippo syndrome type B (MPS IIIB) is a lysosomal storage disease resulting from a deficiency of N-acetyl-glucosaminidase (NAGLU) activity. "
01/01/2007 - "Mucopolysaccharidosis (MPS) IIIB (Sanfilippo Syndrome type B) is caused by a deficiency in the lysosomal enzyme N-acetyl-glucosaminidase (Naglu). "
09/01/2013 - "Mucopolysaccharidosis type IIIB (MPS IIIB) or Sanfilippo Syndrome type B is a lysosomal storage disease resulting from the deficiency of N-acetyl glucosaminidase (NAGLU) activity. "
|10.||heparan sulfate sulfataseIBA
04/15/2000 - "Sanfilippo syndrome type A or mucopolysaccharidosis IIIA (MPS IIIA) results from the deficiency of the enzyme heparan N-sulfatase (NS, EC 22.214.171.124), required for the degradation of heparan sulfate. "
01/01/2001 - "Sanfilippo syndrome type III A (Mucopolysaccharidosis (MPS) III A) is a rare, autosomal recessive, lysosomal storage disease, characterized by the accumulation of heparan sulfate and the loss of function of lysosomal heparan N-sulfatase activity. "
12/01/1999 - "Mucopolysaccharidosis type III A (MPS III A, Sanfilippo syndrome) is a rare, autosomal recessive, lysosomal storage disease characterized by accumulation of heparan sulfate secondary to defective function of the lysosomal enzyme heparan N- sulfatase (sulfamidase). "
09/01/2014 - "Sanfilippo Syndrome or Mucopolysaccharidosis Ill (MPS Ill) is a group of lysosomal storage diseases resulting from a deficiency of one of four lysosomal enzymes: Type A - heparan N-sulfatase (SGSH), Type B - a-N-acetylglucosaminidase (NAGLU), Type C - acetyl CoA a-glucosaminide acetyltransferase (HGSNAT) and Type D - N-acetylglucosamine-6-sulfatase (GNS). "
|1.||Transplantation (Transplant Recipients)
|2.||Enzyme Replacement Therapy
|3.||Investigational Therapies (Experimental Therapy)
|5.||Hematopoietic Stem Cell Transplantation
11/01/2004 - "This is a review of the clinical responses and prospectus of new therapies following use of allogeneic hematopoietic stem cell transplantation for the treatment of the following disorders: Hurlers syndrome (MPS 1-H), globoid cell leukodystrophy (GLD; Krabbes disease), adrenoleukodystrophy, metachromatic leukodystrophy, Wolmans disease, I-cell disease (mucolipidosis II; MLS-II), alpha-mannosidosis, fucosidosis, Niemann-Pick B/A disease, Slys disease (MPS VII), Gauchers disease (Gaucher-II-III), Battens disease, Farbers disease, Sanfilippo syndrome (MPS-III), Hunters disease (MPS-II), Maroteaux-Lamy syndrome (MPS-VI), and aspartylglucosaminuria (AGU). "