Sanfilippo syndrome : causes , consequences , and treatments

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[1]  O. Bodamer,et al.  Newborn Screening for Lysosomal Storage Disorders , 2016, Journal of Pediatric Genetics.

[2]  G. Andria,et al.  Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders. , 2015, Molecular therapy : the journal of the American Society of Gene Therapy.

[3]  N. Shomron,et al.  Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) , 2015, Human molecular genetics.

[4]  T. Dierks,et al.  Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III). , 2015, Human molecular genetics.

[5]  G. Węgrzyn,et al.  Modulation of expression of genes involved in glycosaminoglycan metabolism and lysosome biogenesis by flavonoids , 2015, Scientific Reports.

[6]  P. Trim,et al.  Evaluation of enzyme dose and dose-frequency in ameliorating substrate accumulation in MPS IIIA Huntaway dog brain , 2015, Journal of Inherited Metabolic Disease.

[7]  A. Ballabio,et al.  Lysosomal storage diseases: from pathophysiology to therapy. , 2015, Annual review of medicine.

[8]  A. Pshezhetsky,et al.  Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model. , 2015, Brain : a journal of neurology.

[9]  A. Pshezhetsky,et al.  Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations , 2014, Orphanet Journal of Rare Diseases.

[10]  P. Meikle,et al.  Distribution of Heparan Sulfate Oligosaccharides in Murine Mucopolysaccharidosis Type IIIA , 2014, Metabolites.

[11]  J. Esko,et al.  Demystifying heparan sulfate-protein interactions. , 2014, Annual review of biochemistry.

[12]  A. Ballabio,et al.  Lysosomal adaptation: how the lysosome responds to external cues. , 2014, Cold Spring Harbor perspectives in biology.

[13]  M. Poe,et al.  Natural history of Sanfilippo syndrome type A , 2014, Journal of Inherited Metabolic Disease.

[14]  P. Trim,et al.  A simple method for early age phenotype confirmation using toe tissue from a mouse model of MPS IIIA. , 2014, Rapid communications in mass spectrometry : RCM.

[15]  Andrea Ballabio,et al.  The Phytoestrogen Genistein Modulates Lysosomal Metabolism and Transcription Factor EB (TFEB) Activation* , 2014, The Journal of Biological Chemistry.

[16]  A. Ballabio,et al.  Intracerebral administration of adeno-associated viral vector serotype rh.10 carrying human SGSH and SUMF1 cDNAs in children with mucopolysaccharidosis type IIIA disease: results of a phase I/II trial. , 2014 .

[17]  J. Esko,et al.  Glycan-based biomarkers for mucopolysaccharidoses. , 2014, Molecular genetics and metabolism.

[18]  P. Stenson,et al.  The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine , 2013, Human Genetics.

[19]  Jeong-An Gim,et al.  Structure and Expression Analyses of SVA Elements in Relation to Functional Genes , 2013, Genomics & informatics.

[20]  T. Shimada,et al.  Newborn screening and diagnosis of mucopolysaccharidoses. , 2013, Molecular genetics and metabolism.

[21]  M. Maas,et al.  High prevalence of femoral head necrosis in Mucopolysaccharidosis type III (Sanfilippo disease): a national, observational, cross-sectional study. , 2013, Molecular genetics and metabolism.

[22]  A. Ballabio,et al.  A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA , 2013, EMBO molecular medicine.

[23]  J. Martina,et al.  Rag GTPases mediate amino acid–dependent recruitment of TFEB and MITF to lysosomes , 2013, The Journal of cell biology.

[24]  T. Walther,et al.  The Transcription Factor TFEB Links mTORC1 Signaling to Transcriptional Control of Lysosome Homeostasis , 2012, Science Signaling.

[25]  R. D'Hooge,et al.  Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice , 2012, Proceedings of the National Academy of Sciences.

[26]  Yong Chen,et al.  MTORC1 functions as a transcriptional regulator of autophagy by preventing nuclear transport of TFEB , 2012, Autophagy.

[27]  J. Cooper,et al.  Neuropathology in Mouse Models of Mucopolysaccharidosis Type I, IIIA and IIIB , 2012, PloS one.

[28]  J. Hopwood,et al.  Abnormal Gangliosides are Localized in Lipid Rafts in Sanfilippo (MPS3a) Mouse Brain , 2012, Neurochemical Research.

[29]  M. Gelb,et al.  New substrates and enzyme assays for the detection of mucopolysaccharidosis III (Sanfilippo Syndrome) types A, B, C, and D by tandem mass spectrometry. , 2012, Bioconjugate chemistry.

[30]  A. Ballabio,et al.  A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB , 2012, The EMBO journal.

[31]  R. Löwer,et al.  The non-autonomous retrotransposon SVA is trans-mobilized by the human LINE-1 protein machinery , 2011, Nucleic acids research.

[32]  J. Esko,et al.  Disease-Specific Non-Reducing End Carbohydrate Biomarkers for Mucopolysaccharidoses , 2011, Nature chemical biology.

[33]  A. Ballabio,et al.  Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways. , 2011, Human molecular genetics.

[34]  A. Sinha,et al.  Characterization of the Biosynthesis, Processing and Kinetic Mechanism of Action of the Enzyme Deficient in Mucopolysaccharidosis IIIC , 2011, PloS one.

[35]  A. Ballabio,et al.  Transcriptional Activation of Lysosomal Exocytosis Promotes Cellular Clearance , 2011, Developmental cell.

[36]  D. Corey,et al.  Regulation of TFEB and V-ATPases by mTORC1 , 2011, The EMBO journal.

[37]  J. Hopwood,et al.  Impact of high-dose, chemically modified sulfamidase on pathology in a murine model of MPS IIIA , 2011, Experimental Neurology.

[38]  M. Grootenhuis,et al.  Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome) , 2011, Orphanet journal of rare diseases.

[39]  Andrea Ballabio,et al.  TFEB Links Autophagy to Lysosomal Biogenesis , 2011, Science.

[40]  P. Meikle,et al.  Screening patients referred to a metabolic clinic for lysosomal storage disorders , 2011, Journal of Medical Genetics.

[41]  S. Raoul,et al.  Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes. , 2011, Molecular therapy : the journal of the American Society of Gene Therapy.

[42]  D. Zafeiriou,et al.  Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece , 2011, American journal of medical genetics. Part A.

[43]  G. Węgrzyn,et al.  Genistein Improves Neuropathology and Corrects Behaviour in a Mouse Model of Neurodegenerative Metabolic Disease , 2010, PloS one.

[44]  R. Wevers,et al.  Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype‐phenotype correlations , 2010, Annals of neurology.

[45]  A. Ballabio,et al.  Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders , 2010, The EMBO journal.

[46]  J. Fletcher,et al.  Trans-generational exposure to low levels of rhodamine B does not adversely affect litter size or liver function in murine mucopolysaccharidosis type IIIA. , 2010, Molecular genetics and metabolism.

[47]  R. Wevers,et al.  Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype , 2010, Journal of Inherited Metabolic Disease.

[48]  S. Dréano,et al.  A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis , 2010, Proceedings of the National Academy of Sciences.

[49]  A. Pshezhetsky,et al.  Analysis of the Biogenesis of Heparan Sulfate Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Provides Insights into the Mechanism Underlying Its Complete Deficiency in Mucopolysaccharidosis IIIC* , 2010, The Journal of Biological Chemistry.

[50]  H. Omran,et al.  Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations b , 2010, Human mutation.

[51]  G. Węgrzyn,et al.  Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice. , 2009, Molecular genetics and metabolism.

[52]  A. Pshezhetsky,et al.  Protein Misfolding as an Underlying Molecular Defect in Mucopolysaccharidosis III Type C , 2009, PloS one.

[53]  Valerio Embrione,et al.  A Gene Network Regulating Lysosomal Biogenesis and Function , 2009, Science.

[54]  W. Hwu,et al.  Incidence of the mucopolysaccharidoses in Taiwan, 1984–2004 , 2009, American journal of medical genetics. Part A.

[55]  J. Månsson,et al.  Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence , 2008, Acta paediatrica.

[56]  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.

[57]  T. Dierks,et al.  Arylsulfatase G, a Novel Lysosomal Sulfatase* , 2008, Journal of Biological Chemistry.

[58]  G. Węgrzyn,et al.  Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: An open-label, pilot study in 10 pediatric patients. , 2008, Current therapeutic research, clinical and experimental.

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

[60]  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.

[61]  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.

[62]  J. Hopwood,et al.  Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome) , 2007, Human mutation.

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

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

[65]  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.

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

[67]  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.

[68]  J. Fletcher,et al.  Inhibition of Glycosaminoglycan Synthesis Using Rhodamine B in a Mouse Model of Mucopolysaccharidosis Type IIIA , 2006, Pediatric Research.

[69]  J. Hopwood,et al.  Characterization of a C57BL/6 congenic mouse strain of mucopolysaccharidosis type IIIA , 2006, Brain Research.

[70]  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.

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

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

[73]  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.

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

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

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

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

[78]  J. Thompson,et al.  A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-α-D-glucosaminidase deficiency in Schipperke dogs , 2003, Journal of Inherited Metabolic Disease.

[79]  T. Dierks,et al.  Multiple Sulfatase Deficiency Is Caused by Mutations in the Gene Encoding the Human Cα-Formylglycine Generating Enzyme , 2003, Cell.

[80]  A. Ballabio,et al.  The Multiple Sulfatase Deficiency Gene Encodes an Essential and Limiting Factor for the Activity of Sulfatases , 2003, Cell.

[81]  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.

[82]  A. Ballabio,et al.  Molecular and biochemical characterisation of a novel sulphatase gene: Arylsulfatase G (ARSG) , 2002, European Journal of Human Genetics.

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

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

[85]  J. Hopwood,et al.  Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients. , 2001, Molecular genetics and metabolism.

[86]  U. Giger,et al.  Molecular basis of mucopolysaccharidosis type IIIB in emu (Dromaius novaehollandiae): an avian model of Sanfilippo syndrome type B. , 2001, Genomics.

[87]  C. Scriver,et al.  The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001 , 2001, Journal of Inherited Metabolic Disease.

[88]  J. Hopwood,et al.  Mucopolysaccharidosis IIIA (Sanfilippo syndrome) in a New Zealand Huntaway dog with ataxia , 2000, New Zealand veterinary journal.

[89]  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.

[90]  Peter Finamore,et al.  A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome). , 1999, Glycobiology.

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

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

[93]  J. Hopwood,et al.  Glycosaminoglycan accumulation and excretion in the mucopolysaccharidoses: characterization and basis of a diagnostic test for MPS. , 1998, Molecular genetics and metabolism.

[94]  R. Matalon,et al.  Sulfamidase Deficiency in a Family of Dachshunds: A Canine Model of Mucopolysaccharidosis IIIA (Sanfilippo A) , 1998, Pediatric Research.

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

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

[97]  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.

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

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

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

[101]  T. Selmer,et al.  A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency , 1995, Cell.

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

[103]  P. Meikle,et al.  Human acetyl-coenzyme A:alpha-glucosaminide N-acetyltransferase. Kinetic characterization and mechanistic interpretation. , 1995, The Biochemical journal.

[104]  M. Hayden,et al.  Murine α-l-Iduronidase: cDNA isolation and expression , 1994 .

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

[106]  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.

[107]  J. Thompson,et al.  N-acetylglucosamine 6-sulphatase deficiency in a Nubian goat: A model of Sanfilippo syndrome type D (mucopolysaccharidosis IIID) , 1992, Journal of Inherited Metabolic Disease.

[108]  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.

[109]  C. P. Morris,et al.  Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. , 1990, Proceedings of the National Academy of Sciences of the United States of America.

[110]  J. Hopwood,et al.  Human liver iduronate-2-sulphatase. Purification, characterization and catalytic properties. , 1989, The Biochemical journal.

[111]  C. P. Morris,et al.  Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase. , 1988, Biochemical and biophysical research communications.

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

[113]  J. Hopwood,et al.  Human liver N-acetylglucosamine-6-sulphate sulphatase. Purification and characterization. , 1987, The Biochemical journal.

[114]  J. Hopwood,et al.  Human liver N-acetylglucosamine-6-sulphate sulphatase. Catalytic properties. , 1987, The Biochemical journal.

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

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

[117]  J. Hopwood,et al.  Human liver sulphamate sulphohydrolase. Determinations of native protein and subunit Mr values and influence of substrate agylcone structure on catalytic properties. , 1986, The Biochemical journal.

[118]  D. Brooks,et al.  Human alpha-L-iduronidase. 1. Purification, monoclonal antibody production, native and subunit molecular mass. , 1985, European journal of biochemistry.

[119]  K. Bame,et al.  Acetyl coenzyme A: alpha-glucosaminide N-acetyltransferase. Evidence for a transmembrane acetylation mechanism. , 1985, The Journal of biological chemistry.

[120]  A. Fensom,et al.  4‐methylumbelliferyl α‐N‐acetylglucosaminidase activity for diagnosis of Sanfilippo B disease , 1985 .

[121]  J. Hopwood,et al.  Detection of the Sanfilippo D syndrome by the use of a radiolabeled monosaccharide sulfate as the substrate for the estimation of N-acetylglucosamine-6-sulfate sulfatase. , 1984, Analytical biochemistry.

[122]  J. Hopwood,et al.  Detection of the Sanfilippo type B syndrome using radiolabelled oligosaccharides as substrates for the estimation of alpha-N-acetylglucosaminidase. , 1982, Clinica chimica acta; international journal of clinical chemistry.

[123]  J. Hopwood,et al.  Sulphamidase activity in leucocytes, cultured skin fibroblasts and amniotic cells: diagnosis of the Sanfilippo A syndrome with the use of radiolabelled disaccharide substrate. , 1981, Clinical science.

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

[125]  J. Hopwood,et al.  The diagnosis of the Sanfilippo C syndrome, using monosaccharide and oligosaccharide substrates to assay acetyl-CoA: 2-amino-2-deoxy-alpha-glucoside N-acetyltransferase activity. , 1981, Clinica chimica acta; international journal of clinical chemistry.

[126]  K. von Figura,et al.  Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation. , 1980, Proceedings of the National Academy of Sciences of the United States of America.

[127]  K. von Figura,et al.  Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts. , 1978, Proceedings of the National Academy of Sciences of the United States of America.

[128]  K. Figura.  Human α‐N‐Acetylglucosaminidase , 1977 .

[129]  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.

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

[131]  R. Matalon,et al.  Sanfilippo A syndrome: sulfamidase deficiency in cultured skin fibroblasts and liver. , 1974, The Journal of clinical investigation.

[132]  H. Kresse,et al.  Mucopolysaccharidosis 3 A (Sanfilippo A disease): deficiency of a heparin sulfamidase in skin fibroblasts and leucocytes. , 1973, Biochemical and biophysical research communications.

[133]  J. O'brien.  Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients. , 1972, Proceedings of the National Academy of Sciences of the United States of America.

[134]  H. Kresse,et al.  The Sanfilippo A corrective factor. Purification and mode of action. , 1972, The Journal of biological chemistry.

[135]  C. W. Hall,et al.  Biochemical heterogeneity of the Sanfilippo syndrome: preliminary characterization of two deficient factors. , 1971, Biochemical and biophysical research communications.

[136]  R. Good,et al.  Mental retardation associated with acid mucopolysacchariduria (heparitin sulfate type) , 1963 .

[137]  D. Millington,et al.  Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI. , 2011, Molecular genetics and metabolism.

[138]  Andrea Ballabio,et al.  A block of autophagy in lysosomal storage disorders. , 2008, Human molecular genetics.

[139]  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.

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

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

[142]  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.

[143]  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.

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

[145]  J. Hopwood,et al.  Human liver glucuronate 2-sulphatase. Purification, characterization and catalytic properties. , 1989, The Biochemical journal.

[146]  R. Desnick,et al.  Human α-L-Iduronidase , 1984 .

[147]  R W Farndale,et al.  A direct spectrophotometric microassay for sulfated glycosaminoglycans in cartilage cultures. , 1982, Connective tissue research.

[148]  J. Hopwood,et al.  High-resolution electrophoresis of urinary glycosaminoglycans: an improved screening test for the mucopolysaccharidoses. , 1982, Analytical biochemistry.