Enzyme replacement and substrate reduction therapy for Gaucher disease

Cochrane Database of Systematic Reviews

Volumn 2015, Issue 3, 2015, Pages

  Shemesh, Elad ^a   Deroma, Laura ^b   Bembi, Bruno ^b   Deegan, Patrick ^c   Hollak, Carla ^d   Weinreb, Neal J ^e,f   Cox, Timothy M ^g  

^a MEDICAL CORPS   (Israel)

^b SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e University Research Foundation for Lysosomal Storage Diseases   (United States)

^f UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^g ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALGLUCERASE; C-C MOTIF CHEMOKINE 18; CHITOTRIOSIDASE; GLUCOSYLCERAMIDASE; IMIGLUCERASE; MIGLUSTAT; RECOMBINANT ENZYME; RECOMBINANT GLUCOCEREBROSIDASE; TALIGLUCERASE ALFA; UNCLASSIFIED DRUG; VELAGLUCERASE ALFA; 1 DEOXYNOJIRIMYCIN; ENZYME INHIBITOR; HEMOGLOBIN A; VELAGLUCERASE ALFA, HUMAN;

DIET THERAPY; DOSAGE SCHEDULE COMPARISON; DOSE RESPONSE; DRUG DOSE COMPARISON; DRUG EFFICACY; DRUG RESPONSE; DRUG SAFETY; ENZYME REPLACEMENT; EVIDENCE BASED MEDICINE; GAUCHER DISEASE; HEMOGLOBIN BLOOD LEVEL; HUMAN; LIVER SIZE; MAINTENANCE THERAPY; META ANALYSIS; MONOTHERAPY; NEUROPATHY; PLATELET COUNT; PRIORITY JOURNAL; QUASI EXPERIMENTAL STUDY; RANDOMIZED CONTROLLED TRIAL (TOPIC); REVIEW; SPLEEN SIZE; SUBSTRATE REDUCTION THERAPY; SYSTEMATIC REVIEW; ANALOGS AND DERIVATIVES; BLOOD; ENZYME SPECIFICITY; HEPATOMEGALY; METABOLISM; PROCEDURES; SPLENOMEGALY; THROMBOCYTE COUNT;

1-DEOXYNOJIRIMYCIN; ENZYME INHIBITORS; ENZYME REPLACEMENT THERAPY; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HEMOGLOBIN A; HEPATOMEGALY; HUMANS; PLATELET COUNT; RANDOMIZED CONTROLLED TRIALS AS TOPIC; SPLENOMEGALY; SUBSTRATE SPECIFICITY;

EID: 84940463486     PISSN: None     EISSN: 1469493X     Source Type: Journal    
DOI: 10.1002/14651858.CD010324.pub2     Document Type: Review

References (94)

1. Ben Turkia H, Gonzalez DE, Barton NW, Zimran A, Kabra M, Lukina EA, et al. Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease. American Journal of Hematology 2013;88(3):179-84. [PUBMED: 23400823]
2. Ben Turkia H, Gonzalez DE, Kabra M, Lukina EA, Giraldo P, Kisinovsky I, et al. Two-year safety and tolerability of velaglucerase alfa in patients with type 1 gaucher disease, including patients switched from imiglucerase: phase III trial HGT-GCB-039 and extension [abstract]. Blood 2011;118(21):Poster: 3214. [CENTRAL: 977632; CRS: 5500125000000576]
3. Ben Turkia H, Gonzalez DE, Zimran A, Kabra M, Lukina EA, Giraldo P, et al. Achievement of therapeutic goals in patients with type 1 gaucher disease (GD1) on velaglucerase alfa or imiglucerase: phase III trials HGT-GCB-039 and extension [abstract]. Journal of Inherited Metabolic Disease 2011;34 Suppl 3:S224, Abstract no: P-432. [CENTRAL: 977631; CRS: 5500125000000575]
4. Elstein D, Ben Turkia H, Gonzalez DE, Kabra M, Lukina EA, Giraldo P, et al. Bone mineral density in adults with type 1 gaucher disease receiving velaglucerase alfa 60 U/KG every other week: 2-year results [abstract]. Journal of Inherited Metabolic Disease 2012;35 Suppl 1:S150, Abstract no: P-410. [CENTRAL: 977634; CRS: 5500125000000578]
5. Zimran A, Kisinovsky I, Lukina EA, Elstein D, Zahrieh D, Crombez E, et al. Efficacy of long-term velaglucerase alfa on haematological and visceral parameters in patients with type 1 gaucher disease [abstract]. Journal of Inherited Metabolic Disease 2013;36 Suppl 2:S302, Abstract no: P-728. [CENTRAL: 977639; CRS: 5500125000000583]
6. de Fost M, Aerts JM, Groener JE, Maas M, Akkerman EM, Wiersma MG, et al. Low frequency maintenance therapy with imiglucerase in adult type I Gaucher disease: a prospective randomized controlled trial. Haematologica 2007;92(2):215-21. [PUBMED: 17296571]
7. Elstein D, Dweck A, Attias D, Hadas-Halpern I, Zevin S, Altarescu G, et al. Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement. Blood 2007;110(7):2296-301. [PUBMED: 17609429]
8. Elstein D, Heitner R, Dweck A, Attias D, Atarescu G, Zimran A. OGT 918 as substrate reduction therapy in type I gaucher disease [abstract]. 6th Meeting of the European Haematology Association; 2001 June 21-24; Frankfurt, Germany. 2001:Abstract no: 212. [CENTRAL: 593107; CRS: 5500100000003060]
9. Elstein D, Ben Turkia H, Gonzalez DE, Kabra M, Lukina EA, Giraldo P, et al. Bone mineral density in adults with type 1 gaucher disease receiving velaglucerase alfa 60 U/KG every other week: 2-year results [abstract]. Journal of Inherited Metabolic Disease 2012;35 Suppl 1:S150, Abstract no: P-410. [CENTRAL: 977634; CRS: 5500125000000578]
10. Gonzalez DE, Ben Dridi MF, Lukina E, Kisinovsky I, Ben Turkia H, Elstein D, et al. Clinically significant hemoglobin response observed within 3 months following treatment with velaglucerase alfa in patients with type 1 gaucher disease [abstract]. Journal of Inherited Metabolic Disease 2010;33 Suppl 1:S139, Abstract no: 442-P. [CENTRAL: 977630; CRS: 5500125000000574]
11. Gonzalez DE, Turkia HB, Lukina EA, Kisinovsky I, Dridi MF, Elstein D, et al. Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study. American Journal of Hematology 2013;88(3):166-71. [PUBMED: 23386328]
12. Zimran A, Kisinovsky I, Lukina EA, Elstein D, Zahrieh D, Crombez E, et al. Efficacy of long-term velaglucerase alfa on haematological and visceral parameters in patients with type 1 gaucher disease [abstract]. Journal of Inherited Metabolic Disease 2013;36 Suppl 2:S302, Abstract no: P-728. [CENTRAL: 977639; CRS: 5500125000000583]
13. Grabowski GA, Barton NW, Pastores G, Dambrosia JM, Banerjee TK, McKee MA, et al. Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Annals of Internal Medicine 1995;122(1):33-9. [PUBMED: 7985893]
14. Grabowski GA, Barton NW, Pastores G, Dambrosia JM, Banerjee TK, McKee MA, et al. Enzyme therapy in gaucher disease type 1: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources [abstract]. Blood 1994, issue Suppl:226a.
15. Kishnani PS, DiRocco M, Kaplan P, Mehta A, Pastores GM, Smith SE, et al. A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1. Molecular Genetics and Metabolism 2009;96(4):164-70. [PUBMED: 19195916]
16. Schiffmann R, Fitzgibbon EJ, Harris C, DeVile C, Davies EH, Abel L, et al. Randomized, controlled trial of miglustat in Gaucher's disease type 3. Annals of Neurology 2008;64(5):514-22. [PUBMED: 19067373]
17. Zimran A, Brill-Almon E, Chertkoff R, Petakov M, Blanco-Favela F, Munoz ET, et al. Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease. Blood 2011;118(22):5767-73. [PUBMED: 21900191]
18. Zimran A, Gonzalez-Rodriguez DE, Abrahamov A, Elstein D, Heitner R, Paz A, et al. A multicenter, double-blind, randomized safety and efficacy study of two dose levels of taliglucerase alfa in pediatric patients with gaucher disease [abstract]. Blood 2012;120(21):Abstract no: 2140. [CENTRAL: 977633; CRS: 5500125000000577]
19. Zimran A, Gonzalez-Rodriguez DE, Abrahamov A, Elstein D, Paz A, Brill-Almon E, et al. A multi-center, double-blind, randomized safety and efficacy study of two dose levels of taliglucerase alfa in pediatric patients with gaucher disease [abstract]. Journal of Inherited Metabolic Disease 2013;36 Suppl 2:S301, Abstract no: P-724. [CENTRAL: 977638; CRS: 5500125000000582]
20. Zimran A, Mehta A, Giraldo P, Rosenbaum H, Giona F, Amato D, et al. Long-term safety and efficacy data of taliglucerase alfa, a plant cell expressed recombinant glucocerebrosidase, in the treatment of naive gaucher disease patients [abstract]. Journal of Inherited Metabolic Disease 2012;35 Suppl 1:S11, Abstract no: O-032. [CENTRAL: 977635; CRS: 5500125000000579]
21. van Dussen L, Zimran A, Akkerman EM, Aerts JM, Petakov M, Elstein D, et al. Taliglucerase alfa leads to favorable bone marrow responses in patients with type I Gaucher disease. Blood cells, Molecules & Diseases 2013;50(3):206-11. [PUBMED: 23199589]
22. Elstein D, Abrahamov A, Hadas-Halpern I, Meyer A, Zimran A. Low-dose low-frequency imiglucerase as a starting regimen of enzyme replacement therapy for patients with type I Gaucher disease. QJM: Monthly Journal of the Association of Physicians 1998;91(7):483-8. [PUBMED: 9797931]
23. Wenstrup RJ, Bailey L, Grabowski GA, Moskovitz J, Oestreich AE, Wu W, et al. Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy. Blood 2004;104(5):1253-7. [CENTRAL: 489109; CRS: 5500100000002632; PUBMED: 15010365]
24. Zimran A, Pastores GM, Tylki-Szymanska A, Hughes DA, Elstein D, Mardach R, et al. Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase. American Journal of Hematology 2013;88(3):172-8. [PUBMED: 23339116]
25. Ben Turkia HMF, Lukina E, Amato D, Baris H, Dasouki M, Ghosn M, et al. Engage: a phase 3, randomized, double blind, placebo controlled, multi center study to investigate the efficacy and safety of eliglustat in adults with gaucher disease type 1: 9 month results [abstract]. Journal of Inherited Metabolic Disease 2013;36 Suppl 2:S268, Abstract no: P-596. [CENTRAL: 977640; CRS: 5500125000000584]
26. Dasouka M, Lukina E, Ben Dridi MF, Amato D, Baris H, Ghosn M, et al. Effects of oral eliglustat on bone disease in gaucher disease type 1: results from the randomized, placebo-controlled engage trial [abstract]. Journal of Inherited Metabolic Disease 2013;36 Suppl 2:S268, Abstract no: P-597. [CENTRAL: 977636; CRS: 5500125000000580]
27. Mistry PK, Lukina E, Ben Turkia H, Amato D, Baris H, Dasouki M, et al. Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1: The ENGAGE Randomized Clinical Trial. JAMA 2015;313(7):695-706.
28. Cox TM, Drelichman G, Cravo R, Balwani M, Burrow T, Martins AM, et al. Encore: a multi-national, randomized, controlled, open-label non-inferiority study comparing eliglustat to imiglucerase in gaucher disease type 1 (GD1) patients on enzyme replacement therapy (ERT) who have reached therapeutic goals [abstract]. Journal of Inherited Metabolic Disease 2013;36 Suppl 2:S268, Abstract no: P-598. [CENTRAL: 977637; CRS: 5500125000000581]
29. Aerts JM, Hollak CE, Boot RG, Groener JE, Maas M. Substrate reduction therapy of glycosphingolipid storage disorders. Journal of Inherited Metabolic Disease 2006;29(2-3):449-56. [PUBMED: 16763917]
30. Amiri M, Naim HY. Miglustat-induced intestinal carbohydrate malabsorption is due to the inhibition of alpha-glucosidases, but not beta-galactosidases. Journal of Inherited Metabolic Disease 2012;35(6):949-54. [PUBMED: 22976762]
31. Andersson H, Kaplan P, Kacena K, Yee J. Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1. Pediatrics 2008;122(6):1182-90. [PUBMED: 19047232]
32. Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, et al. Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease. New England Journal of Medicine 1991;324(21):1464-70. [PUBMED: 2023606]
33. Beutler E, Nguyen NJ, Henneberger MW, Smolec JM, McPherson RA, West C, et al. Gaucher disease: gene frequencies in the Ashkenazi Jewish population. American Journal of Human Genetics 1993;52(1):85-8. [PUBMED: 8434610]
34. Beutler E. Gaucher disease: multiple lessons from a single gene disorder. Acta Paediatrica (Oslo, Norway: 1992). Supplement 2006;95(451):103-9. [PUBMED: 16720474]
35. Biegstraaten M, Mengel E, Marodi L, Petakov M, Niederau C, Giraldo P, et al. Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study. Brain: a Journal of Neurology 2010;133(10):2909-19. [PUBMED: 20693542]
36. Black N. Why we need observational studies to evaluate the effectiveness of health care. BMJ (Clinical research ed.) 1996;312(7040):1215-8. [PUBMED: 8634569]
37. Brady RO, Kanfer JN, Bradley RM, Shapiro D. Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease. The Journal of Clinical Investigation July;45(7):1112-5.
38. Bultron G, Kacena K, Pearson D, Boxer M, Yang R, Sathe S, et al. The risk of Parkinson's disease in type 1 Gaucher disease. Journal of Inherited Metabolic Disease 2010;33(2):167-73. [PUBMED: 20177787]
39. Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, et al. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Archives of Internal Medicine 2000;160(18):2835-43. [PUBMED: 11025794]
40. Cherin P, Sedel F, Mignot C, Schupbach M, Gourfinkel-An I, Verny M, et al. Neurological manifestations of type 1 Gaucher's disease: Is a revision of disease classification needed? [Les manifestations neurologiques de la maladie de Gaucher de type 1: vers une remise en cause de la classification actuelle?]. Revue Neurologique 2006;162(11):1076-83. [PUBMED: 17086144]
41. Chetrit EB, Alcalay RN, Steiner-Birmanns B, Altarescu G, Phillips M, Elstein D, et al. Phenotype in patients with Gaucher disease and Parkinson disease. Blood Cells, Molecules & Diseases 2013;50(3):218-21. [PUBMED: 23265741]
42. Cole JA, Taylor JS, Hangartner TN, Weinreb NJ, Mistry PK, Khan A. Reducing selection bias in case-control studies from rare disease registries. Orphanet Journal of Rare Diseases 2011;6:61. [PUBMED: 21910867]
43. Conradi N, Kyllerman M, Mansson JE, Percy AK, Svennerholm L. Late-infantile Gaucher disease in a child with myoclonus and bulbar signs: neuropathological and neurochemical findings. Acta Neuropathologica 1991;82(2):152-7. [PUBMED: 1718128]
44. Cox T, Lachmann R, Hollak C, Aerts J, van Weely S, Hrebicek M, et al. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 2000;355(9214):1481-5. [PUBMED: 10801168]
45. Cox TM, Aerts JM, Andria G, Beck M, Belmatoug N, Bembi B, et al. The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement. Journal of Inherited Metabolic Disease 2003;26(6):513-26. [PUBMED: 14605497]
46. Cox TM. Eliglustat tartrate, an orally active glucocerebroside synthase inhibitor for the potential treatment of Gaucher disease and other lysosomal storage diseases. Current Opinion in Investigational Drugs 2010;11(10):1169-81. [PUBMED: 20872320]
47. 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. Quality of Life Research: an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation 1998;7(5):373-86. [PUBMED: 9691718]
48. de Fost M, Hollak CE, Groener JE, Aerts JM, Maas M, Poll LW, 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: 16527890]
49. Deeks J, Higgins J, Altman D. Chapter 9 Analysing data and undertaking meta-analysis. In: Higgins JPT, Green S (editors). Cochrane Handbook for Systematic Reviews of Interventions Version 5.1.0 [updated March 2011]. The Cochrane Collaboration, 2011. Available from www.cochrane-handbook.org.
50. Deroma L, Sechi A, Dardis A, Macor D, Liva G, Ciana G, et al. Did the temporary shortage in supply of imiglucerase have clinical consequences? Retrospective observational study on 34 italian Gaucher type I patients. JIMD reports 2013;7:117-22. [PUBMED: 23430505]
51. Dietz HC. New therapeutic approaches to mendelian disorders. The New England journal of medicine 2010;363(9):852-63. [PUBMED: 20818846]
52. Elbourne DR, Altman DG, Higgins JP, Curtin F, Worthington HV, Vail A. Meta-analyses involving cross-over trials: methodological issues. International Journal of Epidemiology 2002;31(1):140-9.
53. Genzyme/Sanofi. Prescribed ERT infusions [personal communication]. Email to: Neal Weinreb 2013.
54. Gerstein HC, Bosch J, Dagenais GR, Díaz R, Jung H, Maggioni AP, et al. Basal insulin and cardiovascular and other outcomes in dysglycemia. New England Journal of Medicine 2012;367(4):319-28.
55. Giraldo P, Irun P, Alfonso P, Dalmau J, Fernandez-Galan MA, Figueredo A, et al. Evaluation of Spanish Gaucher disease patients after a 6-month imiglucerase shortage. Blood Cells, Molecules & Diseases 2011;46(1):115-8. [PUBMED: 20934891]
56. Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerney-Leo A, Sidransky E. Parkinsonism among Gaucher disease carriers. Journal of Medical Genetics 2004;41(12):937-40. [PUBMED: 15591280]
57. Goldblatt J, Fletcher JM, McGill J, Szer J, Wilson M. Enzyme replacement therapy "drug holiday": results from an unexpected shortage of an orphan drug supply in Australia. Blood cells, Molecules & Diseases 2011;46(1):107-10. [PUBMED: 20684886]
58. Grabowski GA. Gaucher disease: gene frequencies and genotype/phenotype correlations. Genetic testing 1997;1(1):5-12. [PUBMED: 10464619]
59. Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet 2008;372(9645):1263-71.
60. Grabowski GA, Kacena K, Cole JA, Hollak CE, Zhang L, Yee J, et al. Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genetics in Medicine: Official Journal of the American College of Medical Genetics 2009;11(2):92-100. [PUBMED: 19265748]
61. Higgins JPT, Altman DG (editors). Chapter 8: Assessing risk of bias in included studies. In: Higgins JPT, Green S (editors). Cochrane Handbook for Systematic Reviews of Interventions Version 5.1.0 [updated March 2011]. The Cochrane Collaboration, 2011. Available from www.cochrane-handbook.org.
62. Hollak CE, vom Dahl S, Aerts JM, Belmatoug N, Bembi B, Cohen Y, et al. Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease. Blood Cells, Molecules & Diseases 2010;44(1):41-7. [PUBMED: 19804996]
63. Hollak CE, Aerts JM, Ayme S, Manuel J. Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders. Orphanet Journal of Rare Diseases 2011;6:16. [PUBMED: 21496291]
64. Hollak CE. An evidence-based review of the potential benefits of taliglucerase alfa in the treatment of patients with Gaucher disease. Core Evidence 2012;7:15-20. [PUBMED: 22654679]
65. Hughes DA, Mlilligan A, Mehta A. Home therapy for lysosomal storage disorders. British Journal of Nursing 2007;16(22):1386-9.
66. Inokuchi J, Radin NS. Preparation of the active isomer of 1-phenyl-2-decanoylamino-3-morpholino-1-propanol, inhibitor of murine glucocerebroside synthetase. Journal of Lipid Research 1987;28(5):565-71. [PUBMED: 2955067]
67. Kaplan P, Andersson HC, Kacena KA, Yee JD. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Archives of Pediatrics & Adolescent Medicine 2006;160(6):603-8. [PUBMED: 16754822]
68. Kauli R, Zaizov R, Lazar L, Pertzelan A, Laron Z, Galatzer A, et al. Delayed growth and puberty in patients with Gaucher disease type 1: natural history and effect of splenectomy and/or enzyme replacement therapy. Israel Medical Association Journal 2000;2(2):158-63. [PUBMED: 10804944]
69. Khan A, Hangartner T, Weinreb NJ, Taylor JS, Mistry PK. Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: a study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry. Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research 2012;27(8):1839-48. [PUBMED: 22692814]
70. Krumholz HM, Ross JS, Gross CP, Emanuel EJ, Hodshon B, Ritchie JD, et al. A historic moment for open science: the yale university open data access project and medtronic. Annals of Internal Medicine 2013;158(12):910-1. [PUBMED: 23778908]
71. Kuter DJ, Mehta A, Hollak CE, Giraldo P, Hughes D, Belmatoug N, et al. Miglustat therapy in type 1 Gaucher disease: clinical and safety outcomes in a multicenter retrospective cohort study. Blood Cells, Molecules & Diseases 2013;51(2):116-24. [PUBMED: 23683771]
72. Langeveld M, de Fost M, Aerts JM, Sauerwein HP, Hollak CE. Overweight, insulin resistance and type II diabetes in type I Gaucher disease patients in relation to enzyme replacement therapy. Blood Cells, Molecules & Diseases 2008;40(3):428-32. [PUBMED: 17950007]
73. Lee RE. The pathology of Gaucher disease. Progress in Clinical and Biological Research 1982;95:177-217. [PUBMED: 7122634]
74. Lukina E, Watman N, Arreguin EA, Dragosky M, Iastrebner M, Rosenbaum H, et al. Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study. Blood 2010;116(20):4095-8. [PUBMED: 20713962]
75. McEachern KA, Fung J, Komarnitsky S, Siegel CS, Chuang WL, Hutto E, et al. A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease. Molecular Genetics and Metabolism 2007;91(3):259-67. [PUBMED: 17509920]
76. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999;281(3):249-54. [PUBMED: 9918480]
77. 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: 8950883]
78. Mistry PK, Deegan P, Vellodi A, Cole JA, Yeh M, Weinreb NJ. Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis. British Journal of Haematology 2009;147(4):561-70. [PUBMED: 19732054]
79. Mistry PK, Weinreb NJ, Kaplan P, Cole JA, Gwosdow AR, Hangartner T. Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults. Blood Cells, Molecules & Diseases 2011;46(1):66-72. [PUBMED: 21112800]
80. Nathan DM, Buse JB, Kahn SE, Krause-Steinrauf H, Larkin ME, Staten M, et al. Rationale and Design of the Glycemia Reduction Approaches in Diabetes: A Comparative Effectiveness Study (GRADE). Diabetes Care 2013;36(8):2254-61. [PUBMED: 23690531]
81. Oulaidi F, Front-Deschamps S, Gallienne E, Lesellier E, Ikeda K, Asano N, et al. Second-generation iminoxylitol-based pharmacological chaperones for the treatment of Gaucher disease. ChemMedChem 2011;6(2):353-61. [PUBMED: 21275057]
82. Pastores GM. Recombinant glucocerebrosidase (imiglucerase) as a therapy for Gaucher disease. BioDrugs: Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy 2010;24(1):41-7. [PUBMED: 20055531]
83. Platt FM, Neises GR, Dwek RA, Butters TD. N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. The Journal of Biological Chemistry 1994;269(11):8362-5. [PUBMED: 8132559]
84. Resnick D, Bozic KJ. Meta-analysis of Trials of Recombinant Human Bone Morphogenetic Protein-2: What Should Spine Surgeons and Their Patients Do With This Information?. Annals of Internal Medicine 2013;158(12):912-3. [PUBMED: 23778909]
85. Rosenbloom BE, Weinreb NJ, Zimran A, Kacena KA, Charrow J, Ward E. Gaucher disease and cancer incidence: a study from the Gaucher Registry. Blood 2005;105(12):4569-72. [PUBMED: 15718419]
86. Rosenbloom B, Balwani M, Bronstein JM, Kolodny E, Sathe S, Gwosdow AR, et al. The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher Registry. Blood Cells, Molecules & Diseases 2011;46(1):95-102. [PUBMED: 21067946]
87. Rosenbloom BE, Weinreb NJ. Gaucher disease: a comprehensive review. Critical Reviews in Oncogenesis 2013;18(3):163-75. [PUBMED: 23510062]
88. Sidransky E. Gaucher disease: complexity in a "simple" disorder. Molecular Genetics and Metabolism 2004;83(1-2):6-15. [PUBMED: 15464415]
89. Starzyk K, Richards S, Yee J, Smith SE, Kingma W. The long-term international safety experience of imiglucerase therapy for Gaucher disease. Molecular Genetics and Metabolism 2007;90(2):157-63. [PUBMED: 17079176]
90. Stein P, Malhotra A, Haims A, Pastores GM, Mistry PK. Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy. Journal of Inherited Metabolic Disease 2010;33(6):769-74. [PUBMED: 20683668]
91. Stowens DW, Teitelbaum SL, Kahn AJ, Barranger JA. Skeletal complications of Gaucher disease. Medicine 1985;64(5):310-22. [PUBMED: 4033409]
92. Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, 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. American Journal of Medicine 2002;113(2):112-9. [PUBMED: 12133749]
93. Zimran A, Altarescu G, Elstein D. Nonprecipitous changes upon withdrawal from imiglucerase for Gaucher disease because of a shortage in supply. Blood Cells, Molecules & Diseases 2011;46(1):111-4. [PUBMED: 20542712]
94. Zimran A, Altarescu G, Elstein D. Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease. Blood cells, molecules & diseases 2013;50(2):134-7. [PUBMED: 23085429]