Sanfilippo syndrome: A mini-review
暂无分享,去创建一个
[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.