Laronidase (Aldurazyme^®): enzyme replacement therapy for mucopolysaccharidosis type I

Bibliography

• Clarke LA. The mucopolysaccharidoses: a success of molecular medicine. Expert Rev Mol Med 2008;10(1):e1. Published online 18 Jan 2008, doi:10.1017/S1462399408000550
   PubMedGoogle Scholar
• Baehner F, Schmiedeskamp C, Krummenauer F, et al. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis 2005;28(6):1011-7
   PubMed Web of Science ®Google Scholar
• Pastores GM, Arn P, Beck M, et al. The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with mucopolysaccharidosis type I. Mol Genet Metab 2007;91(1):37-47
   PubMed Web of Science ®Google Scholar
• Rempel BP, Clarke LA, Withers SG. A homology model for human α-L-iduronidase: insights into human disease. Mol Genet Metab 2005;85(1):28-37
   PubMed Web of Science ®Google Scholar
• Matte U, Yogalingam G, Brooks D, et al. Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. Mol Genet Metab 2003;78(1):37-43
   PubMed Web of Science ®Google Scholar
• Sugawara K, Saito S, Ohno K, et al. Structural study on mutant α-L-iduronidases: insight into mucopolysaccharidosis type I. J Hum Genet 2008: published online 14 March 2008, doi:10.1007/s10038-008-0272-4
   Google Scholar
• Hinek A, Wilson SE. Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly. Am J Pathol 2000;156(3):925-38
   PubMed Web of Science ®Google Scholar
• 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(4):415-26
   PubMed Web of Science ®Google Scholar
• Ohmi K, Greenberg DS, Rajavel KS, et al. Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB. Proc Natl Acad Sci USA 2003;100(4):1902-7
   PubMed Web of Science ®Google Scholar
• Fuller M, Brooks DA, Evangelista M, et al. Prediction of neuropathology in mucopolysaccharidosis I patients. Mol Genet Metab 2005;84(1):18-24
   PubMed Web of Science ®Google Scholar
• Fratantoni JC, Hall CW, Neufeld EF. Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science 1968;162(853):570-2
   PubMed Web of Science ®Google Scholar
• Hobbs JR, Hugh-Jones K, Barrett AJ, et al. Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation. Lancet 1981;2(8249):709-12
   PubMed Web of Science ®Google Scholar
• Shull RM, Helman RG, Spellacy E, et al. Morphologic and biochemical studies of canine mucopolysaccharidosis I. Am J Pathol 1984;114(3):487-95
   PubMed Web of Science ®Google Scholar
• Shull RM, Kakkis ED, McEntee MF, et al. Enzyme replacement in a canine model of Hurler syndrome. Proc Natl Acad Sci USA 1994;91(26):12937-41
   PubMed Web of Science ®Google Scholar
• Kakkis ED, McEntee MF, Schmidtchen A, et al. Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I. Biochem Mol Med 1996;58(2):156-67
   PubMedGoogle Scholar
• Kakkis ED, Schuchman E, He X, et al. Enzyme replacement therapy in feline mucopolysaccharidosis I. Mol Genet Metab 2001;72(3):199-208
   PubMed Web of Science ®Google Scholar
• Kakkis E, McEntee M, Vogler C, et al. Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I. Mol Genet Metab 2004;83(1-2):163-74
   PubMed Web of Science ®Google Scholar
• Dickson P, McEntee M, Vogler C, et al. Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid. Mol Genet Metab 2007;91(1):61-8
   PubMed Web of Science ®Google Scholar
• Kakkis E, Lester T, Yang R, et al. Successful induction of immune tolerance to enzyme replacement therapy in canine mucopolysaccharidosis I. Proc Natl Acad Sci USA 2004;101(3):829-34
   PubMed Web of Science ®Google Scholar
• Kakkis ED, Muenzer J, Tiller GE, et al. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 2001;344(3):182-8
   PubMed Web of Science ®Google Scholar
• Taylor JA, Gibson GJ, Brooks DA, et al. α-L-iduronidase in normal and mucopolysaccharidosis-type-I human skin fibroblasts. Biochem J 1991;274(Pt 1):263-8
   PubMed Web of Science ®Google Scholar
• Sifuentes M, Doroshow R, Hoft R, et al. A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab 2007;90(2):171-80
   PubMed Web of Science ®Google Scholar
• Kakavanos R, Turner CT, Hopwood JJ, et al. Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I. Lancet 2003;361(9369):1608-13
   PubMed Web of Science ®Google Scholar
• 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 α-L-iduronidase (laronidase). J Pediatr 2004;144(5):581-8
   PubMed Web of Science ®Google Scholar
• Wraith JE, Beck M, Lane R, et al. Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human α-L-iduronidase (laronidase). Pediatrics 2007;120(1):e37-46. Published online 4 June 2007, doi:10.1542/peds.2006-2156
   PubMed Web of Science ®Google Scholar
• Hirth A, Berg A, Greve G. Successful treatment of severe heart failure in an infant with Hurler syndrome. J Inherit Metab Dis 2007;30(5):820
   PubMed Web of Science ®Google Scholar
• Thomas JA, Jacobs S, Kierstein J, et al. Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome. J Inherit Metab Dis 2006;29(6):762
   PubMedGoogle Scholar
• Kloska A, Bohdanowicz J, Konopa G, et al. Changes in hair morphology of mucopolysaccharidosis I patients treated with recombinant human α-L-iduronidase (laronidase, Aldurazyme). Am J Med Genet A 2005;139(3):199-203
   PubMedGoogle Scholar
• Grewal SS, Wynn R, Abdenur JE, et al. Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome. Genet Med 2005;7(2):143-6
   PubMed Web of Science ®Google Scholar
• Randall DR, Sinclair GB, Colobong KE, et al. Heparin cofactor II-thrombin complex in MPS I: a biomarker of MPS disease. Mol Genet Metab 2006;88(3):235-43
   PubMed Web of Science ®Google Scholar
• Staba SL, Escolar ML, Poe M, et al. Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N Engl J Med 2004;350(19):1960-9
   PubMed Web of Science ®Google Scholar
• Prasad VK, Kurtzberg J. Emerging trends in transplantation of inherited metabolic diseases. Bone Marrow Transplant 2008;41(2):99-108
   PubMed Web of Science ®Google Scholar
• Jakóbkiewicz-Banecka J, Wegrzyn A, Wegrzyn G. Substrate deprivation therapy: a new hope for patients suffering from neuronopathic forms of inherited lysosomal storage diseases. J Appl Genet 2007;48(4):383-8
   PubMed Web of Science ®Google Scholar
• Hein LK, Bawden M, Muller VJ, et al. α-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. J Mol Biol 2004;338(3):453-62
   PubMed Web of Science ®Google Scholar
• Keeling KM, Brooks DA, Hopwood JJ, et al. Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of α-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation. Hum Mol Genet 2001;10(3):291-9
   PubMed Web of Science ®Google Scholar