Bibliography
- Lowry RB, Renwick DH. Relative frequency of the Hurler and Hunter syndromes. N Engl J Med 1971;284(4):221-2
- Lowry RB, Applegarth DA, Toone JR, et al. An update on the frequency of mucopolysaccharide syndromes in British Columbia. Hum Genet 1990;85(3):389-90
- Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999;281(3):249-54
- Nelson J. Incidence of the mucopolysaccharidoses in Northern Ireland. Hum Genet 1997;101(3):355-8
- Nelson J, Crowhurst J, Carey B, Greed L. Incidence of the mucopolysaccharidoses in Western Australia. Am J Med Genet 2003;123(3):310-3
- Neufeld EF, Muenzer. Jute mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, et al., editors. The Metabolic and Molecular Bases of Inherited Diseases 8th edition. New York: McGraw-Hill 2001. p. 3421-52
- Parkinson-Lawrence E, Turner C, Hopwood J, Brooks D. Analysis of normal and mutant iduronate-2-sulphatase conformation. Biochem J 2005;386(Pt 2):395-400
- McKinnis E, Sulzbacher S, Rutledge JC, et al. Bone marrow transplantation in Hunter syndrome. J Peds 1996;129(1):145-8
- Guffon N, Froissart R, Philippe N, Maire I. Outcome of bone marrow transplantation in eight patients with Hunter disease. J Inherit Metab Dis 2001;24:172
- Vellodi A, Young E, Cooper A, et al. Long-term follow-up following bone marrow transplantation for Hunter disease. J Inherit Metab Dis 1999;22:638-48
- Freeman C, Hopwood J. Lysosomal degradation of heparin and heparan sulphate. Adv Exp Med Biol 1992;313:121-34
- Clarke LA. The mucopolysaccharidoses: a success of molecular medicine. Expert Rev Mol Med 2008;In Press
- Contains prescribing information for idursulfatase. Available from: http://www.elaprase.com
- Rasheed S, Nelson-Rees WA, Toth EM, et al. Characterization of a newly derived human sarcoma cell line (HT-1080). Cancer 1974;33(4):1027-33
- Muenzer J, Wraith JE, Beck M, et al. A Phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med 2006;8:465-73
- Bielicki J, Hopwood JJ, Wilson PJ, Anson DS. Recombinant human iduronate-2-sulphatase: correction of mucopolysaccharidosis-type II fibroblasts and characterization of the purified enzyme. Biochem J 1993;289(Pt 1):241-6
- Ghosh D. Human sulfatases: a structural perspective to catalysis. Cell Mol Life Sci 2007;64(15):2013-22
- Bielicki J, Freeman C, Clements PR, Hopwood JJ. Human liver iduronate-2-sulphatase. Purification, characterization and catalytic properties. Biochem J 1990;271(1):75-86
- Wilson PJ, Morris CP, Anson DS, et al. Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. Proc Natl Acad Sci USA 1990;87:8531-5
- Wilson PJ, Meaney CA, Hopwood JJ, Morris CP. Sequence of the human iduronate 2-sulfatase (IDS) gene. Genomics 1993;17:773-5
- Timms KM, Lu F, Shen Y, et al. 130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus. PCR Methods Applic 1995;5(1):71-8
- Cudry S, Froissart R, Bouton O, et al. The 2.1-, 5.4- and 5.7-kb transcripts of the IDS gene are generated by diferent polyadenylation signals. Biochem Biophys Acta 1999;1447:35-42
- Kornfeld S. Trafficking of lysosomal enzymes in normal and disease states. J Clin Invest 1986;77:1-6
- Garcia AR, Dacosta JM, Pan J, et al. Preclinical dose ranging studies for enzyme replacement therapy with idursulfase in a knock-out mouse model of MPS II. Mol Genet Metab 2007;91:183-90
- Muenzer J, Gucsavas-Calikoglu M, McCandless SE, et al. A Phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome). Mol Genet Metab 2007;90:329-37
- Wraith JE, Clarke LA, Beck M, et al. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr 2004;144:581-8
- Kakkis ED, Muenzer J, Tiller GE, et al. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 2001;344:182-8
- Harmatz P, Ketteridge D, Giugliani R, et al. Direct comparison of measures of endurance, mobility, and joint function during enzyme replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. Peds 2005;115:e681-9
- Harmatz P, Giugliani R, Schwartz I, 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. J Pediatr 2006;148:533-9
- Contains a link to the Department of Health best practice guidance document entitled: guidelines for the investigation and management of mucopolysaccharidosis type II. Available from: http://www.dh.gov.uk
- Walkley SU, March PA. Biology of neuronal dysfunction in storage disorders. J Inher Metab Dis 1993;16:284-7
- Walkley SU. Secondary accumulation of gangliosides in lysosomal storage disorders. Semin Cell Dev Biol 2004;15:433-44
- McGlynn R, Dobrenis K, Walkley SU. Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders. J Comp Neurol 2004;480:415-26