Sanfilippo syndrome: A mini-review

[1]  F. D. Nidiffer,et al.  Developmental and degenerative patterns associated with cognitive, behavioural and motor difficulties in the Sanfilippo syndrome: an epidemiological study. , 2008, Journal of mental deficiency research.

[2]  A. Pshezhetsky,et al.  Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. , 2008, Molecular genetics and metabolism.

[3]  A. Ballabio,et al.  Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes. , 2007, Human molecular genetics.

[4]  T. Braulke,et al.  Scoring Evaluation of the Natural Course of Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome Type A) , 2007, Pediatrics.

[5]  P. Kaplan,et al.  Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene. , 2007, Archives of neurology.

[6]  D. Mahuran,et al.  Lending a helping hand, screening chemical libraries for compounds that enhance β‐hexosaminidase A activity in GM2 gangliosidosis cells , 2007, The FEBS journal.

[7]  S. Ishii,et al.  Active‐site‐specific chaperone therapy for Fabry disease , 2007, The FEBS journal.

[8]  J. Fletcher,et al.  Improvement in behaviour after substrate deprivation therapy with rhodamine B in a mouse model of MPS IIIA. , 2007, Molecular genetics and metabolism.

[9]  M. Patterson,et al.  Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study , 2007, The Lancet Neurology.

[10]  M. Haskins,et al.  Gene therapy for mucopolysaccharidosis , 2007, Expert opinion on biological therapy.

[11]  U. Moog,et al.  Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems? , 2007, American journal of medical genetics. Part C, Seminars in medical genetics.

[12]  W. Sly,et al.  Epinephrine enhances lysosomal enzyme delivery across the blood–brain barrier by up-regulation of the mannose 6-phosphate receptor , 2007, Proceedings of the National Academy of Sciences.

[13]  L. Jenkinson,et al.  Quantitation of urinary glycosaminoglycans using dimethylene blue as a screening technique for the diagnosis of mucopolysaccharidoses - an evaluation , 2007, Annals of clinical biochemistry.

[14]  A. Fischer,et al.  Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failure , 2007, Bone Marrow Transplantation.

[15]  A. Ballabio,et al.  Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome) , 2007, Human mutation.

[16]  J. Muenzer,et al.  Significantly increased lifespan and improved behavioral performances by rAAV gene delivery in adult mucopolysaccharidosis IIIB mice , 2007, Gene Therapy.

[17]  A. Ballabio,et al.  SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies. , 2007, The Biochemical journal.

[18]  J. Hopwood,et al.  Injection of recombinant human sulfamidase into the CSF via the cerebellomedullary cistern in MPS IIIA mice. , 2007, Molecular genetics and metabolism.

[19]  S. Castaldo,et al.  Cytokines, neurotrophins, and oxidative stress in brain disease from mucopolysaccharidosis IIIB , 2007, Journal of neuroscience research.

[20]  T. Hudson,et al.  Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). , 2006, American journal of human genetics.

[21]  J. Callahan,et al.  Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). , 2006, American journal of human genetics.

[22]  J. Kurtzberg,et al.  Neurophysiologic assessment of mucopolysaccharidosis III , 2006, Clinical Neurophysiology.

[23]  C. Eng,et al.  A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome) , 2006, Genetics in Medicine.

[24]  J. Wittes,et al.  Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. , 2006, The Journal of pediatrics.

[25]  D. Pozo,et al.  Impairment of the melatonin rhythm in children with Sanfilippo syndrome , 2006, Journal of pineal research.

[26]  F. Krummenauer,et al.  Cumulative incidence rates of the mucopolysaccharidoses in Germany , 2005, Journal of Inherited Metabolic Disease.

[27]  M. Delatycki,et al.  Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study , 2005, Archives of Disease in Childhood.

[28]  C. Beesley,et al.  Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB) , 2005, Journal of Inherited Metabolic Disease.

[29]  P. Sanberg,et al.  Transplantation of human umbilical cord blood cells benefits an animal model of Sanfilippo syndrome type B. , 2005, Stem cells and development.

[30]  O. Gabrielli,et al.  An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene , 2005, American journal of medical genetics. Part A.

[31]  J. Hopwood Prenatal diagnosis of Sanfilippo syndrome , 2005, Prenatal diagnosis.

[32]  S. Walkley,et al.  Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders , 2004, The Journal of comparative neurology.

[33]  P. Meikle,et al.  Disease-Specific Markers for the Mucopolysaccharidoses , 2004, Pediatric Research.

[34]  W. Sly,et al.  Developmentally regulated mannose 6-phosphate receptor-mediated transport of a lysosomal enzyme across the blood-brain barrier. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[35]  S. Ryazantsev,et al.  Retrovirally transduced bone marrow has a therapeutic effect on brain in the mouse model of mucopolysaccharidosis IIIB. , 2004, Molecular genetics and metabolism.

[36]  P. Savas,et al.  Intracerebral injection of sulfamidase delays neuropathology in murine MPS-IIIA. , 2004, Molecular genetics and metabolism.

[37]  S. Walkley Secondary accumulation of gangliosides in lysosomal storage disorders. , 2004, Seminars in cell & developmental biology.

[38]  M. Poe,et al.  Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. , 2004, The New England journal of medicine.

[39]  Joseph Muenzer,et al.  Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). , 2004, The Journal of pediatrics.

[40]  J. Vanneste,et al.  Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters , 2004, Journal of Neurology.

[41]  O. Amaral,et al.  Prevalence of lysosomal storage diseases in Portugal , 2004, European Journal of Human Genetics.

[42]  C. Beesley,et al.  Sanfilippo B syndrome: molecular defects in Greek patients , 2004, Clinical genetics.

[43]  J. Nelson,et al.  Incidence of the mucopolysaccharidoses in Western Australia , 2003, American journal of medical genetics. Part A.

[44]  P. Natale,et al.  Analysis of Sanfilippo A gene mutations in a large pedigree , 2003, Clinical genetics.

[45]  S. Ryazantsev,et al.  Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[46]  C. Peters,et al.  Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines , 2003, Bone Marrow Transplantation.

[47]  M. Delatycki,et al.  Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians , 2002, Clinical genetics.

[48]  F. Gomez-Pinilla,et al.  Attenuated plasticity in neurons and astrocytes in the mouse model of Sanfilippo syndrome type B , 2002, Journal of neuroscience research.

[49]  N. Inaba,et al.  Ultrastructural and cytochemical characterization of human cord blood cells , 2002, Medical Electron Microscopy.

[50]  Chieh-Wen Shen,et al.  Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA) , 2002, Clinical genetics.

[51]  T. Coşkun,et al.  Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B , 2002, Human mutation.

[52]  W. Lien,et al.  Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB) , 2002, Journal of medical genetics.

[53]  R. Linhardt,et al.  Heparin-protein interactions. , 2002, Angewandte Chemie.

[54]  J. Hopwood,et al.  Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications , 2001, Human mutation.

[55]  K. Bame Heparanases: endoglycosidases that degrade heparan sulfate proteoglycans. , 2001, Glycobiology.

[56]  A. Chabás,et al.  Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations , 2001, Journal of Inherited Metabolic Disease.

[57]  C. Beesley,et al.  Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations , 2000, Journal of medical genetics.

[58]  R. Dwek,et al.  Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis , 2000, The Lancet.

[59]  J. Hopwood,et al.  Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects. , 2000, Biochimica et biophysica acta.

[60]  D. Applegarth,et al.  Incidence of Inborn Errors of Metabolism in British Columbia, 1969–1996 , 2000, Pediatrics.

[61]  M. Fanselow,et al.  Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[62]  J. E. Wraith,et al.  Bone marrow transplantation in mucopolysaccharidosis type IIIA: A comparison of an early treated patient with his untreated sibling , 1999, Journal of Inherited Metabolic Disease.

[63]  R. A. Wevers,et al.  The frequency of lysosomal storage diseases in The Netherlands , 1999, Human Genetics.

[64]  P. Meikle,et al.  Prevalence of lysosomal storage disorders. , 1999, JAMA.

[65]  W. Kleijer,et al.  Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel α-N-acetylglucosaminidase gene mutations , 1999, Journal of medical genetics.

[66]  C. Beesley,et al.  Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). , 1998, Journal of medical genetics.

[67]  J. Stone,et al.  Urine Analysis in the Diagnosis of Mucopolysaccharide Disorders , 1998, Annals of clinical biochemistry.

[68]  W. Sly,et al.  Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation , 1998, Bone Marrow Transplantation.

[69]  J. Nelson,et al.  Incidence of the mucopolysaccharidoses in Northern Ireland , 1997, Human Genetics.

[70]  D. Sillence,et al.  Human Mucopolysaccharidosis IIID: Clinical, Biochemical, Morpholgical and Immunohistochemical Characteristics , 1997, Journal of neuropathology and experimental neurology.

[71]  J. Hopwood,et al.  Novel mutations in Sanfilippo A syndrome: implications for enzyme function. , 1997, Human molecular genetics.

[72]  H. Scott,et al.  Molecular defects in Sanfilippo syndrome type A. , 1997, Human molecular genetics.

[73]  A. Schmidtchen,et al.  The molecular basis of Sanfilippo syndrome type B. , 1996, Proceedings of the National Academy of Sciences of the United States of America.

[74]  P. Kaplan,et al.  Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. , 1996, Blood.

[75]  M. Bax,et al.  SLEEP PROBLEMS IN CHILDREN WITH SANFILIPPO SYNDROME , 1996, Developmental medicine and child neurology.

[76]  H. Scott,et al.  Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B). , 1996, Human molecular genetics.

[77]  A. Hoogeveen,et al.  A fluorimetric enzyme assay for the diagnosis of sanfilippo disease type A (MPS IIIA) , 1996, Journal of Inherited Metabolic Disease.

[78]  C. P. Morris,et al.  Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome , 1995, Nature Genetics.

[79]  S. Walkley,et al.  GM2 ganglioside and pyramidal neuron dendritogenesis , 1995, Neurochemical Research.

[80]  M. Bax,et al.  Behaviour in mucopolysaccharide disorders. , 1995, Archives of disease in childhood.

[81]  L. Lockman,et al.  Microglia: The Effector Cell for Reconstitution of the Central Nervous System following Bone Marrow Transplantation for Lysosomal and Peroxisomal Storage Diseases , 1995, Cell transplantation.

[82]  W. Kleijer,et al.  Prenatal diagnosis of sanfilippo disease type C using a simple fluorometric enzyme assay , 1994, Prenatal diagnosis.

[83]  W. Kleijer,et al.  A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS IIID) , 1993, Journal of Inherited Metabolic Disease.

[84]  J. E. Wraith,et al.  Management of mucopolysaccharidosis type III. , 1993 .

[85]  A. M. Boer,et al.  A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease C (MPS III C) , 1993, Journal of Inherited Metabolic Disease.

[86]  M. New,et al.  Bone marrow transplantation for Sanfilippo disease type B , 1992, Journal of Inherited Metabolic Disease.

[87]  R. Wevers,et al.  Measuring urinary glycosaminoglycans in the presence of protein: an improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue. , 1992, Clinical chemistry.

[88]  T. Kaji,et al.  Rhodamine B inhibition of glycosaminoglycan production by cultured human lip fibroblasts. , 1991, Toxicology and applied pharmacology.

[89]  R. Lowry,et al.  An update on the frequency of mucopolysaccharide syndromes in British Columbia , 1990, Human Genetics.

[90]  C. P. Morris,et al.  Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14 , 1988, Human Genetics.

[91]  K. Bame,et al.  Genetic evidence for transmembrane acetylation by lysosomes. , 1986, Science.

[92]  K. Bame,et al.  Acetyl-coenzyme A:alpha-glucosaminide N-acetyltransferase. Evidence for an active site histidine residue. , 1986, The Journal of biological chemistry.

[93]  H. Conrad,et al.  A sulfatase specific for glucuronic acid 2-sulfate residues in glycosaminoglycans. , 1985, The Journal of biological chemistry.

[94]  J. Hopwood,et al.  Urinary excretion of sulphated N-acetylhexosamines in patients with various mucopolysaccharidoses. , 1985, The Biochemical journal.

[95]  K. Figura,et al.  Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C) , 1981, Clinical genetics.

[96]  H. Henderson,et al.  A method for the determination of amniotic-fluid glycosaminoglycans and its application to the prenatal diagnosis of Hurler and Sanfilippo diseases. , 1977, Clinica chimica acta; international journal of clinical chemistry.

[97]  J. Convit,et al.  Inhibition of leucocytic lysosomal enzymes by glycosaminoglycans in vitro. , 1975, The Biochemical journal.

[98]  A. Linker,et al.  Distinction Among Four Forms of Hurler's Syndrome.∗ † , 1964, Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine.

[99]  G. Węgrzyn,et al.  Substrate deprivation therapy: a new hope for patients suffering from neuronopathic forms of inherited lysosomal storage diseases , 2010, Journal of Applied Genetics.

[100]  M. Filocamo,et al.  Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID). , 2007, Molecular genetics and metabolism.

[101]  G. Węgrzyn,et al.  Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses , 2006, European Journal of Human Genetics.

[102]  C. Di Domenico,et al.  Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA. , 2006, Human Genetics.

[103]  Robert A Hegele,et al.  Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase. , 2003, Genomics.

[104]  A. Tessitore,et al.  Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients. , 2000, Human genetics.

[105]  J. Hopwood,et al.  Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes , 1999, European Journal of Human Genetics.

[106]  E. Aronovich,et al.  Genotype-phenotype correspondence in Sanfilippo syndrome type B. , 1998, American journal of human genetics.

[107]  A. Schmidtchen,et al.  NAGLU mutations underlying Sanfilippo syndrome type B. , 1998, American journal of human genetics.

[108]  D. Grinberg,et al.  Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients , 1998, Human mutation.

[109]  S. Esposito,et al.  Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations , 1998, Human mutation.

[110]  J. Hopwood,et al.  Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A) , 1997, Human mutation.

[111]  H. Scott,et al.  Structure and sequence of the human sulphamidase gene. , 1996, DNA research : an international journal for rapid publication of reports on genes and genomes.

[112]  V. Cool,et al.  Poor cognitive outcome of eleven children with Sanfilippo syndrome after bone marrow transplantation and successful engraftment , 1995 .

[113]  D. Frappaz,et al.  Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation. , 1995, Lancet.

[114]  L. Kjellén,et al.  Proteoglycans: structures and interactions. , 1991, Annual review of biochemistry.

[115]  J. J. van de Kamp,et al.  Follow-up on seven adult patients with mild Sanfilippo B-disease. , 1987, American journal of medical genetics.

[116]  A. Fensom,et al.  4-Methylumbelliferyl alpha-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease. , 1985, Clinical genetics.