Enzyme replacement therapy for Gaucher disease

Bibliography

• Zimran A, Gelbart T, Westwood B, et al. High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. Am J Hum Genet 1991;49(4):855-9
   PubMed Web of Science ®Google Scholar
• Beutler E, Nguyen NJ, Henneberger MW, et al. Gaucher disease: gene frequencies in the Ashkenazi Jewish population. Am J Hum Genet 1993;52(1):85-8
   PubMed Web of Science ®Google Scholar
• Amaral O, Pinto E, Fortuna M, et al. Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese. Hum Mutat 1996;8(3):280-1
   PubMed Web of Science ®Google Scholar
• Meikle PJ, Hopwood JJ, Clague AE, et al. Prevalence of lysosomal storage disorders. JAMA 1999;281(3):249-54
   PubMed Web of Science ®Google Scholar
• Beutler E, Grabowski GA. Gaucher Disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th edition. New York: McGraw-Hill 2001; p. 3636
   Google Scholar
• Pelled D, Trajkovic-Bodennec S, Lloyd-Evans E, et al. Enhanced calcium release in the acute neuronopathic form of Gaucher disease. Neurobiol Dis 2005;18(1):83-8
   PubMed Web of Science ®Google Scholar
• Rose JS, Grabowski GA, Barnett SH, et al. Accelerated skeletal deterioration after splenectomy in Gaucher type 1 disease. AJR Am J Roentgenol 1982;139(6):1202-4
   PubMed Web of Science ®Google Scholar
• Schiffmann R, Mankin H, Dambrosia JM, et al. Decreased bone density in splenectomized Gaucher patients receiving enzyme replacement therapy. Blood Cells Mol Dis 2002;28(2):288-96
   PubMed Web of Science ®Google Scholar
• Zimran A, Elstein D, Schiffmann R, et al. Outcome of partial splenectomy for type I Gaucher disease. J Pediatr 1995;126(4):596-7
   PubMed Web of Science ®Google Scholar
• Shiloni E, Bitran D, Rachmilewitz E, et al. The role of splenectomy in Gaucher's disease. Arch Surg 1983;118(8):929-32
   PubMed Web of Science ®Google Scholar
• Samuel R, Katz K, Papapoulos SE, et al. Aminohydroxy propylidene bisphosphonate (APD) treatment improves the clinical skeletal manifestations of Gaucher's disease. Pediatrics 1994;94(3):385-9
   PubMed Web of Science ®Google Scholar
• Ciana G, Cuttini M, Bembi B. Short-term effects of pamidronate in patients with Gaucher's disease and severe skeletal involvement. N Engl J Med 1997;337(10):712
   PubMed Web of Science ®Google Scholar
• Wenstrup RJ, Bailey L, Grabowski GA, et al. Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy. Blood 2004;104(5):1253-7
   PubMed Web of Science ®Google Scholar
• Ringden O, Remberger M, Svahn BM, et al. Allogeneic hematopoietic stem cell transplantation for inherited disorders: experience in a single center. Transplantation 2006;81(5):718-25
   PubMed Web of Science ®Google Scholar
• Yabe H, Yabe M, Hattori K, et al. Secondary G-CSF mobilized blood stem cell transplantation without preconditioning in a patient with Gaucher disease: Report of a new approach which resulted in complete reversal of severe skeletal involvement. Tokai J Exp Clin Med 2005;30(1):77-82
   PubMedGoogle Scholar
• Ringden O, Groth CG, Erikson A, et al. Ten years' experience of bone marrow transplantation for Gaucher disease. Transplantation 1995;59(6):864-70
   PubMed Web of Science ®Google Scholar
• Chan KW, Wong LT, Applegarth D, et al. Bone marrow transplantation in Gaucher's disease: effect of mixed chimeric state. Bone Marrow Transplant 1994;14(2):327-30
   PubMed Web of Science ®Google Scholar
• Tsai P, Lipton JM, Sahdev I, et al. Allogenic bone marrow transplantation in severe Gaucher disease. Pediatr Res 1992;31(5):503-7
   PubMed Web of Science ®Google Scholar
• Ringden O, Groth CG, Erikson A, et al. Long-term follow-up of the first successful bone marrow transplantation in Gaucher disease. Transplantation 1988;46(1):66-70
   PubMed Web of Science ®Google Scholar
• Starer F, Sargent JD, Hobbs JR. Regression of the radiological changes of Gaucher's disease following bone marrow transplantation. Br J Radiol 1987;60(720):1189-95
   PubMed Web of Science ®Google Scholar
• Enquist IB, Nilsson E, Ooka A, et al. Effective cell and gene therapy in a murine model of Gaucher disease. Proceedings of the National Academy of Sciences of the United States of America 2006;103(37):13819-24
   Google Scholar
• Weinthal J, Nolta JA, Yu XJ, et al. Expression of human glucocerebrosidase following retroviral vector-mediated transduction of murine hematopoietic stem cells. Bone Marrow Transplant 1991;8(5):403-12
   PubMed Web of Science ®Google Scholar
• Correll PH, Colilla S, Dave HP, et al. High levels of human glucocerebrosidase activity in macrophages of long-term reconstituted mice after retroviral infection of hematopoietic stem cells. Blood 1992;80(2):331-6
   PubMed Web of Science ®Google Scholar
• Mceachern KA, Nietupski JB, Chuang WL, et al. AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease. J Gene Med 2006;8(6):719-29
   PubMed Web of Science ®Google Scholar
• Hong YB, Kim EY, Yoo HW, et al. Feasibility of gene therapy in Gaucher disease using an adeno-associated virus vector. J Hum Genet 2004;49(10):536-43
   PubMed Web of Science ®Google Scholar
• Kim EY, Hong YB, Lai Z, et al. Expression and secretion of human glucocerebrosidase mediated by recombinant lentivirus vectors in vitro and in vivo: implications for gene therapy of Gaucher disease. Biochem Biophys Res Commun 2004;318(2):381-90
   PubMed Web of Science ®Google Scholar
• Ohashi T, Boggs S, Robbins P, et al. Efficient transfer and sustained high expression of the human glucocerebrosidase gene in mice and their functional macrophages following transplantation of bone marrow transduced by a retroviral vector. Proceedings of the National Academy of Sciences of the United States of America 1992;89(23):11332-6
   Google Scholar
• Dunbar CE, Kohn DB, Schiffmann R, et al. Retroviral transfer of the glucocerebrosidase gene into CD34+ cells from patients with Gaucher disease: in vivo detection of transduced cells without myeloablation. Hum Gene Ther 1998;9(17):2629-40
   PubMed Web of Science ®Google Scholar
• Barranger JA, Rice EO, Dunigan J, et al. Gaucher's disease: studies of gene transfer to haematopoietic cells. Baillieres Clin Haematol 1997;10(4):765-78
   PubMedGoogle Scholar
• Fabrega S, Lehn P. Therapie genique des maladies de Gaucher et de Fabry: etat actuel et perspectives. J Soc Biol 2002;196(2):175-81
   PubMedGoogle Scholar
• Straus W. Changes in “droplet” fractions from rat kidney cells after intraperitoneal injection of egg white. J Biophys Biochem Cytol 1957;3(6):933-47
   PubMedGoogle Scholar
• De Duve C, Wattiaux R, De Duve C, et al. Functions of lysosomes. Annu Rev Physiol 1966;28:435-92
   PubMed Web of Science ®Google Scholar
• Hers HG, Hers HG. α-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease). Biochem J 1963;86:11-16
   PubMed Web of Science ®Google Scholar
• Lejeune N, Thines-Sempoux D, Hers HG, et al. Tissue fractionation studies. 16. Intracellular distribution and properties of alpha-glucosidases in rat liver. Biochem J 1963;86:16-21
   PubMed Web of Science ®Google Scholar
• De Duve C. From Cytases to Lysosomes. Federation Proceedings 1964;23:1045-9
   Google Scholar
• De Duve C, De Duve C. The significance of lysosomes in pathology and medicine. Proceedings of the Institute of Medicine of Chicago 1966;26(4):73-6
   Google Scholar
• Hug G, Schubert WK, Hug G, et al. Lysosomes in type II glycogenosis. Changes during administration of extract from Aspergillus Niger J Cell Biol 1967;35(1):C1-6
   PubMed Web of Science ®Google Scholar
• Brady RO, Pentchev PG, Gal AE, et al. Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase in Gaucher's disease. N Engl J Med 1974;291(19):989-93
   PubMed Web of Science ®Google Scholar
• Brady RO, Pentchev PG, Gal AE, et al. Enzyme replacement therapy for the sphingolipidoses. In: Volume B, Schneck L, eds. Current Trends in Sphingolipidoses and Allied Disorders New York: Plenum Press; 1976
   Google Scholar
• Brady RO, Barton NW. Enzyme replacement therapy for type 1 Gaucher disease. In: Desnick R, editors. Treatment of Genetic Diseases New York: Churchill Livingstone; 1991
   Google Scholar
• Furbish FS, Steer CJ, Barranger JA, et al. The uptake of native and desialylated glucocerebrosidase by rat hepatocytes and Kupffer cells. Biochem Biophys Res Commun 1978;81(3):1047-53
   PubMed Web of Science ®Google Scholar
• Achord DT, Brot FE, Bell CE, et al. Human β-glucuronidase: in vivo clearance and in vitro uptake by a glycoprotein recognition system on reticuloendothelial cells. Cell 1978;15(1):269-78
   PubMed Web of Science ®Google Scholar
• Stahl PD, Rodman JS, Miller MJ, et al. Evidence for receptor-mediated binding of glycoproteins, glycoconjugates, and lysosomal glycosidases by alveolar macrophages. Proceedings of the National Academy of Sciences of the United States of America 1978;75(3):1399-403
   Google Scholar
• Furbish FS, Steer CJ, Krett NL, et al. Uptake and distribution of placental glucocerebrosidase in rat hepatic cells and effects of sequential deglycosylation. Biochim Biophys Acta 1981;673(4):425-34
   PubMed Web of Science ®Google Scholar
• Murray GJ. Lectin-specific targeting of lysosomal enzymes to reticuloendothelial cells. Methods Enzymol 1987;149:25-42
   PubMed Web of Science ®Google Scholar
• Barton NW, Furbish FS, Murray GJ, et al. Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Proceedings of the National Academy of Sciences of the United States of America 1990;87(5):1913-6
   Google Scholar
• Barton NW, Brady RO, Dambrosia JM, et al. Replacement therapy for inherited enzyme deficiency–macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med 1991;324(21):1464-70
   PubMed Web of Science ®Google Scholar
• Grabowski GA, Barton NW, Pastores G, et al. Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med 1995;122(1):33-9
   PubMed Web of Science ®Google Scholar
• Friedman B, Vaddi K, Preston C, et al. A comparison of the pharmacological properties of carbohydrate remodeled recombinant and placental-derived β-glucocerebrosidase: implications for clinical efficacy in treatment of Gaucher disease. Blood 1999;93(9):2807-16
   PubMed Web of Science ®Google Scholar
• Murray GJ, Oliver KL, Jin FS, et al. Studies on the turnover of exogenous mannose-terminal glucocerebrosidase in rat liver lysosomes. J Cell Biochem 1995;57(2):208-17
   PubMed Web of Science ®Google Scholar
• Xu YH, Ponce E, Sun Y, et al. Turnover and distribution of intravenously administered mannose-terminated human acid β-glucosidase in murine and human tissues. Pediatr Res 1996;39(2):313-22
   PubMed Web of Science ®Google Scholar
• Bijsterbosch MK, Donker W, Van De Bilt H, et al. Quantitative analysis of the targeting of mannose-terminal glucocerebrosidase. Predominant uptake by liver endothelial cells. Eur J Biochem 1996;237(2):344-49
   PubMedGoogle Scholar
• Sato Y, Beutler E. Binding, internalization, and degradation of mannose-terminated glucocerebrosidase by macrophages. J Clin Invest 1993;91(5):1909-17
   PubMed Web of Science ®Google Scholar
• Murray GJ, Jin FS. Immunoelectron microscopic localization of mannose-terminal glucocerebrosidase in lysosomes of rat liver Kupffer cells. J Histochem Cytochem 1995;43(2):149-58
   PubMed Web of Science ®Google Scholar
• Mistry PK, Wraight EP, Cox TM. Therapeutic delivery of proteins to macrophages: implications for treatment of Gaucher's disease. Lancet 1996;348(9041):1555-9
   PubMed Web of Science ®Google Scholar
• Hollak CE, Aerts JM, Goudsmit R, et al. Individualised low-dose alglucerase therapy for type 1 Gaucher's disease. Lancet 1995;345(8963):1474-8
   PubMed Web of Science ®Google Scholar
• Zimran A, Elstein D, Kannai R, et al. Low-dose enzyme replacement therapy for Gaucher's disease: effects of age, sex, genotype, and clinical features on response to treatment. Am J Med 1994;97(1):3-13
   PubMed Web of Science ®Google Scholar
• Beutler E. Dosage-response in the treatment of Gaucher disease by enzyme replacement therapy. Blood Cells Mol Dis 2000;26(4):303-6
   PubMed Web of Science ®Google Scholar
• Wilson C, Spearing R, Teague L, et al. The outcome of clinical parameters in adults with severe Type I Gaucher disease using very low dose enzyme replacement therapy. Mol Genet Metab 2007;92(1-2):131-6
   PubMed Web of Science ®Google Scholar
• Zimran A, Hadas-Halpern I, Zevin S, et al. Low-dose high-frequency enzyme replacement therapy for very young children with severe Gaucher disease. Br J Haematol 1993;85(4):783-6
   PubMed Web of Science ®Google Scholar
• Elstein D, Abrahamov A, Hadas-Halpern I, et al. Low-dose low-frequency imiglucerase as a starting regimen of enzyme replacement therapy for patients with type I Gaucher disease. QJM 1998;91(7):483-8
   PubMedGoogle Scholar
• Altarescu G, Schiffmann R, Parker CC, et al. Comparative efficacy of dose regimens in enzyme replacement therapy of type I Gaucher disease. Blood Cells Mol Dis 2000;26(4):285-90
   PubMed Web of Science ®Google Scholar
• Mistry PK, Davies S, Corfield A, et al. Successful treatment of bone marrow failure in Gaucher's disease with low-dose modified glucocerebrosidase. QJM 1992;83(303):541-6
   PubMed Web of Science ®Google Scholar
• Zimran A, Elstein D, Levy-Lahad E, et al. Replacement therapy with imiglucerase for type 1 Gaucher's disease. Lancet 1995;345(8963):1479-80
   PubMed Web of Science ®Google Scholar
• Cohen IJ, Katz K, Kornreich L, et al. Low-dose high-frequency enzyme replacement therapy prevents fractures without complete suppression of painful bone crises in patients with severe juvenile onset type I Gaucher disease.. Blood Cells Mol Dis 1998;24(3):296-302
   PubMed Web of Science ®Google Scholar
• Marodi L. Low-dose versus high-frequency regimens in Gaucher's disease. Lancet 1995;346(8987):1434
   PubMedGoogle Scholar
• Migita M, Fukunaga Y, Ueda T, et al. Progression of bone disease without deterioration of hematological parameters in a child with Gaucher disease during low-dose glucocerebrosidase therapy. Nippon Ika Daigaku Zasshi – J Nippon Med Sch 1994;61(6):633-7
   PubMedGoogle Scholar
• Ueda T, Fukunaga Y, Migita M, et al. Improvement of bone disease with increased dose of glucocerebrosidase in a Gaucher disease patient who had a bone lesion presenting during low-dose enzyme replacement therapy Acta Paediatr Japonica 1996;38(3):260-4
   PubMedGoogle Scholar
• Beutler E. Enzyme replacement therapy for Gaucher's disease. Baillieres Clin Haematol 1997;10(4):751-63
   PubMedGoogle Scholar
• Beutler E, Demina A, Laubscher K, et al. The clinical course of treated and untreated Gaucher disease. A study of 45 patients. Blood Cells Mol Dis 1995;21(2):86-108
   PubMed Web of Science ®Google Scholar
• De Fost M, Hollak CE, Groener JE, et al. Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis. Blood 2006;108(3):830-5
   PubMed Web of Science ®Google Scholar
• Charrow J, Andersson HC, Kaplan P, et al. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med 2000;160(18):2835-43
   PubMed Web of Science ®Google Scholar
• Grabowski GA, Charrow J, Hollak CEM, et al. Analysis of enzyme replacement therapy dose-response relationships in patients with type 1 Gaucher disease. 56th Annual meeting of the American Society of Human Genetics. New Orleans, LA October 9–13 2006. [Abstract 2352/B page 410]. Available from: http://www.ashg.org/genetics/ashg/annmeet/2006/call/pdf/2390%20Abstracts,%206-per-page.pdf [Last accessed 26 October 2010]
   Google Scholar
• Grabowski GA, Kacena KA, Hollak CE, et al. Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genet Med 2008; In press
   Google Scholar
• Wenstrup RJ, Kacena KA, Kaplan P, et al. Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease. J Bone Miner Res 2007;22(1):119-26
   PubMed Web of Science ®Google Scholar
• Beutler E. Economic malpractice in the treatment of Gaucher's disease. Am J Med 1994;97(1):1-2
   PubMed Web of Science ®Google Scholar
• Beutler E, Garber AM. Alglucerase for Gaucher's disease: dose, costs and benefits. Pharmacoeconomics 1994;5(6):453-9
   PubMed Web of Science ®Google Scholar
• Beutler E. The cost of treating Gaucher disease. Nat Med 1996;2(5):523-4
   PubMed Web of Science ®Google Scholar
• Zimran A, Elstein D, Beutler E. Low-dose therapy trumps high-dose therapy again in the treatment of Gaucher disease. Blood 2006;108(3):802-3
   PubMed Web of Science ®Google Scholar
• Andersson HC, Charrow J, Kaplan P, et al. Individualization of long-term enzyme replacement therapy for Gaucher disease [erratum appears in Genet Med. 2005;76:460]. Genet Med 2005;7(2):105-10
   PubMed Web of Science ®Google Scholar
• Charrow J, Andersson HC, Kaplan P, et al. Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations. J Pediatr 2004;144(1):112-20
   PubMed Web of Science ®Google Scholar
• Weinreb NJ, Charrow J, Andersson HC, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med 2002;113(2):112-9
   PubMed Web of Science ®Google Scholar
• Fallet S, Grace ME, Sibille A, et al. Enzyme augmentation in moderate to life-threatening Gaucher disease. Pediatr Res 1992;31(5):496-502
   PubMed Web of Science ®Google Scholar
• Beutler E, Kay A, Saven A, et al. Enzyme replacement therapy for Gaucher disease. Blood 1991;78(5):1183-9
   PubMed Web of Science ®Google Scholar
• Figueroa ML, Rosenbloom BE, Kay AC, et al. A less costly regimen of alglucerase to treat Gaucher's disease. N Engl J Med 1992;327(23):1632-6
   PubMed Web of Science ®Google Scholar
• Pastores GM, Sibille AR, Grabowski GA. Enzyme therapy in Gaucher disease type 1: dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months. Blood 1993;82(2):408-16
   PubMed Web of Science ®Google Scholar
• Rosenthal DI, Doppelt SH, Mankin HJ, et al. Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics 1995;96(4 Pt 1):629-37
   PubMed Web of Science ®Google Scholar
• Hollak C, Maas M, Akkerman E, et al. Dixon quantitative chemical shift imaging is a sensitive tool for the evaluation of bone marrow responses to individualized doses of enzyme supplementation therapy in type 1 Gaucher disease. Blood Cells Mol Dis 2001;27(6):1005-12
   PubMed Web of Science ®Google Scholar
• Charrow J, Dulisse B, Grabowski GA, et al. The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease. Clin Genet 2007;71(3):205-11
   PubMed Web of Science ®Google Scholar
• Damiano AM, Pastores GM, Ware JE, JR. The health-related quality of life of adults with Gaucher's disease receiving enzyme replacement therapy: results from a retrospective study. Qual Life Res 1998;7(5):373-36
   PubMed Web of Science ®Google Scholar
• Hayes RP, Grinzaid KA, Duffey EB, et al. The impact of Gaucher disease and its treatment on quality of life. Qual Life Res 1998;7(6):521-34
   PubMed Web of Science ®Google Scholar
• Weinreb N, Barranger J, Packman S, et al. Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease. Clin Genet 2007;71(6):576-88
   PubMed Web of Science ®Google Scholar
• Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol 2004;41(4 Suppl 5):4-14
   PubMed Web of Science ®Google Scholar
• Charrow J, Esplin JA, Gribble TJ, et al. Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Arch Intern Med 1998;158(16):1754-60
   PubMed Web of Science ®Google Scholar
• Hughes D, Cappellini MD, Berger M, et al. Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease. Br J Haematol 2007;138(6):676-86
   PubMed Web of Science ®Google Scholar
• Vom Dahl S, Poll L, Di Rocco M, et al. Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients. Curr Med Res Opin 2006;22(6):1045-64
   PubMed Web of Science ®Google Scholar
• Weinreb NJ, Aggio MC, Andersson HC, et al. Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. [erratum appears in Semin Hematol. 2005;42(3):179]. Semin Hematol 2004;41(4 Suppl 5):15-22
   PubMed Web of Science ®Google Scholar
• Erikson A, Johansson K, Mansson JE, et al. Enzyme replacement therapy of infantile Gaucher disease. Neuropediatrics 1993;24(4):237-8
   PubMed Web of Science ®Google Scholar
• Migita M, Hamada H, Fujimura J, et al. Glucocerebrosidase level in the cerebrospinal fluid during enzyme replacement therapy – unsuccessful treatment of the neurological abnormality in type 2 Gaucher disease. Eur J Pediatr 2003;162(7-8):524-5
   PubMed Web of Science ®Google Scholar
• Takahashi T, Yoshida Y, Sato W, et al. Enzyme therapy in Gaucher disease type 2: an autopsy case. Tohoku J Exp Med 1998;186(2):143-9
   PubMed Web of Science ®Google Scholar
• Prows CA, Sanchez N, Daugherty C, et al. Gaucher disease: enzyme therapy in the acute neuronopathic variant. Am J Med Genet 1997;71(1):16-21
   PubMed Web of Science ®Google Scholar
• Tylki-Szymanska A, Czartoryska B. Enzyme replacement therapy in type III Gaucher disease. J Inherit Metab Dis 1999;22(2):203-4
   PubMed Web of Science ®Google Scholar
• Erikson A, Astrom M, Mansson JE. Enzyme infusion therapy of the Norrbottnian (type 3) Gaucher disease. Neuropediatrics 1995;26(4):203-7
   PubMed Web of Science ®Google Scholar
• Erikson A, Forsberg H, Nilsson M, et al. Ten years' experience of enzyme infusion therapy of Norrbottnian (type 3) Gaucher disease. Acta Paediatr 2006;95(3):312-7
   PubMed Web of Science ®Google Scholar
• Altarescu G, Hill S, Wiggs E, et al. The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease. J Pediatr 2001;138(4):539-47
   PubMed Web of Science ®Google Scholar
• Dobbelaere D, Sukno S, Defoort-Dhellemmes S, et al. Neurological outcome of a patient with Gaucher disease type III treated by enzymatic replacement therapy. J Inherit Metab Dis 1998;21(1):74-6
   PubMed Web of Science ®Google Scholar
• Schiffmann R, Heyes MP, Aerts JM, et al. Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease. Ann Neurol 1997;42(4):613-21
   PubMed Web of Science ®Google Scholar
• Vellodi A, Bembi B, De Villemeur TB, et al. Management of neuronopathic Gaucher disease: a European consensus. J InheritMetab Dis 2001;24(3):319-27
   PubMed Web of Science ®Google Scholar
• Davies EH, Erikson A, Collin-Histed T, et al. Outcome of type III Gaucher disease on enzyme replacement therapy: review of 55 cases. J Inherit Metab Dis 2007;30(6):935-42
   PubMed Web of Science ®Google Scholar
• Zimran A, Elstein D. No justification for very high-dose enzyme therapy for patients with type III Gaucher disease. J Inherit Metab Dis 2007;30(6):843-4
   PubMed Web of Science ®Google Scholar
• Starzyk K, Richards S, Yee J, et al. The long-term international safety experience of imiglucerase therapy for Gaucher disease. Mol Genet Metab 2007;90(2):157-63
   PubMed Web of Science ®Google Scholar
• Zhao H, Bailey LA, Grabowski GA. Enzyme therapy of Gaucher disease: clinical and biochemical changes during production of and tolerization for neutralizing antibodies. Blood Cells Mol Dis 2003;30(1):90-6
   PubMed Web of Science ®Google Scholar
• Germain DP, Kaneski CR, Brady RO. Mutation analysis of the acid β-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase. Mutat Res 2001;483(1-2):89-94
   PubMed Web of Science ®Google Scholar
• Brady RO, Murray GJ, Oliver KL, et al. Management of neutralizing antibody to Ceredase in a patient with type 3 Gaucher disease. Pediatrics 1997;100(6):E11
   PubMed Web of Science ®Google Scholar
• Ponce E, Moskovitz J, Grabowski G. Enzyme therapy in Gaucher disease type 1: effect of neutralizing antibodies to acid β-glucosidase. Blood 1997;90(1):43-8
   PubMed Web of Science ®Google Scholar
• Rosenberg M, Kingma W, Fitzpatrick MA, et al. Immunosurveillance of alglucerase enzyme therapy for Gaucher patients: induction of humoral tolerance in seroconverted patients after repeat administration. Blood 1999;93(6):2081-8
   PubMed Web of Science ®Google Scholar