An overview on bone manifestations in Gaucher disease

Wiener Medizinische Wochenschrift

Volumn 160, Issue 23-24, 2010, Pages 609-624

  Mikosch, Peter ^a   Hughes, Derralynn ^b  

^a GENERAL HOSPITAL KLAGENFURT   (Austria)

^b ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

Avascular bone necrosis; Bone crisis; Gaucher disease; Osteomyelitis; Osteoporosis

Indexed keywords

ALKALINE PHOSPHATASE BONE ISOENZYME; ALPHA GLUCOSIDASE INHIBITOR; AMINO TERMINAL TELOPEPTIDE; BISPHOSPHONIC ACID DERIVATIVE; CALCITONIN; CARBOXY TERMINAL TELOPEPTIDE; CATHEPSIN K; COLECALCIFEROL; COLONY STIMULATING FACTOR 1; CYCLOOXYGENASE 2; DEOXYPYRIDINOLINE; ELIGLUSTAT TARTRATE; GENZ 112638; GLUCOSYLCERAMIDE; HYDROXYPROLINE; IMIGLUCERASE; INTERLEUKIN 10; INTERLEUKIN 18; MIGLUSTAT; OSTEOCALCIN; OSTEOPROTEGERIN; PARATHYROID HORMONE[1-34]; PYRIDINOLINE; RALOXIFENE; RECOMBINANT ENZYME; RECOMBINANT GLUCOCEREBROSIDASE; STRONTIUM RANELATE; TUMOR NECROSIS FACTOR ALPHA; UNCLASSIFIED DRUG; UNINDEXED DRUG; VELAGLUCERASE ALFA; VITAMIN D;

ARTHROPLASTY; ARTICLE; AVASCULAR NECROSIS; BONE BIOPSY; BONE DENSITOMETRY; BONE DENSITY; BONE DISEASE; BONE INFARCT; BONE MALFORMATION; BONE METABOLISM; BONE PAIN; BONE RADIOGRAPHY; BONE SCINTISCANNING; CD4+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CYTOKINE RELEASE; DRUG MEGADOSE; ENZYME REPLACEMENT; ERLENMEYER FLASK DEFORMITY; FRACTURE; GAUCHER DISEASE; GROWTH RETARDATION; HUMAN; HYDROXYPROLINE URINE LEVEL; IMMOBILIZATION; JAW OSTEONECROSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOMYELITIS; OSTEOPENIA; OSTEOPOROSIS; OSTEOSCLEROSIS; POSTMENOPAUSE OSTEOPOROSIS; QUALITY OF LIFE; SPLENECTOMY; VITAMIN BLOOD LEVEL;

BIOPSY; BONE AND BONES; BONE DENSITY CONSERVATION AGENTS; BONE DISEASES; COMBINED MODALITY THERAPY; CYTOKINES; DIAGNOSIS, DIFFERENTIAL; DIPHOSPHONATES; ENZYME REPLACEMENT THERAPY; GAUCHER DISEASE; HUMANS; MAGNETIC RESONANCE IMAGING; MOBILITY LIMITATION; OSTEOMYELITIS; OSTEONECROSIS; OSTEOPOROSIS; QUALITY OF LIFE; SPINAL DISEASES; SPINE;

EID: 78751473041     PISSN: 00435341     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10354-010-0841-y     Document Type: Article

References (98)

1. A Mehta 2006 Epidemiology and natural history of Gaucher's disease Eur J Intern Med 17 S2 S5 1:CAS:528:DC%2BD28XhtVagt7zK 10.1016/j.ejim.2006.07.005 17011471 (Pubitemid 44441904)
2. DP Germain 2004 Gaucher's disease: a paradigm for interventional genetics Clin Genet 65 77 86 1:STN:280:DC%2BD2c%2FpvFSnsw%3D%3D 10.1111/j.0009-9163. 2004.00217.x 14984463 (Pubitemid 38220108)
3. Walton-Bowen K, Mantick N. Gaucher Registry Annual Aggregate Data Report. 2000
4. M de Fost CJM van Noesel JM Aerts, et al. 2008 Persistent bone disease in adult type 1 Gaucher disease despite increasing doses of enzyme replacement therapy Haematologica 93 1119 1120 1:CAS:528:DC%2BD1cXhsVWis7nK 10.3324/haematol.12651 18519519 (Pubitemid 351957043)
5. MJ Allen BJ Meyer AM Khokher, et al. 1997 Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: increased release of interleukin-6 and interleukin-10 QJM 90 19 25 1:STN:280:DyaK2s3kslCmug%3D%3D 9093585
6. V Barak M Acker B Nisman, et al. 1999 Cytokines in Gaucher's disease Eur Cytokine Netw 10 205 210 1:CAS:528:DyaK1MXlsFWiurk%3D 10400826
7. CE Hollak L Evers JM Aerts, et al. 1997 Elevated levels of M-CSF, sCD14 and IL8 in type 1 Gaucher disease Blood Cells Mol Dis 23 201 212 1:STN:280:DyaK2szotlelsw%3D%3D 10.1006/bcmd.1997.0137 9236158 (Pubitemid 27469455)
8. M Yoshino Y Watanabe Y Tokunaga, et al. 2007 Roles of specific cytokines in bone remodelling and hematopoisis in Gaucher disease Pediatr Int 49 959 965 1:CAS:528:DC%2BD1cXpslGmsw%3D%3D 10.1111/j.1442-200X.2007.02502.x 18045304 (Pubitemid 350197159)
9. M Lichtenstein A Zimran M Horowitz 1997 Cytokine mRNA in Gaucher disease Blood Cells Mol Dis 23 395 401 1:CAS:528:DyaK1cXhsF2gtrs%3D 10.1006/bcmd.1997. 0156 9446753 (Pubitemid 28123721)
10. PM Campeau M Rafei MN Boivin, et al. 2009 Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome Blood 114 3134 3135 10.1182/blood-2009-02-205708
11. M Abe K Hiura J Wilde, et al. 2002 Role for macrophage inflammatory protein (MIP)-1α and MIP-1β in the development of osteolytic in multiple myeloma Blood 100 2195 2302 1:CAS:528:DC%2BD38Xnt1yhsb4%3D 12200385
12. MJ Breemen M de Fost JS Voerman, et al. 2007 Increased plasma macrophage inflammatory protein (MIP)-1alpha and MIP-1beta levels in type 1 Gaucher disease Biochim Biophys Acta 1772 788 796 17499484
13. L Lacerda FA Arosa R Lacerda, et al. 1999 T cell numbers relate to bone involvement in Gaucher disease Blood Cells Mol Dis 25 130 138 1:STN:280:DyaK1MzhslyhtA%3D%3D 10.1006/bcmd.1999.0237 10389595 (Pubitemid 29298192)
14. W Sipos P Pietschmann M Rauner, et al. 2009 Pathophysiology of osteoporosis Wiener Med Wochenschr 159 230 234 10.1007/s10354-009-0647-y
15. S Piran A Roberts MA Patterson, et al. 2009 The clinical course of untreated Gaucher disease in 22 patients over 10 years: haematological and skeletal manifestations Blood Cells Mol Dis 43 289 293 10.1016/j.bcmd.2009.08. 002 19793665
16. P Giraldo V Salano JI Perez-Calvo, et al. 2005 Spanish Group on Gaucher Disease. Quality of life to type 1 Gaucher disease: Spanish experience Qual Life Res 14 453 462 10.1007/s11136-004-0794-y 15892434 (Pubitemid 40576395)
17. RJ Wenstrup M Roca-Espiau NJ Weinreb, et al. 2002 Skeletal aspects of Gaucher disease: a review Br J Radiol 75 Suppl 1 A2 A12 12036828
18. B Bembi G Ciana E Mengel, et al. 2002 Bone complications in children with Gaucher disease Br J Radiol 75 Suppl 1 A37 A44 12036831
19. PG Sido C Drugan V Cret, et al. 2007 Outcome of enzyme replacement therapy in patients with Gaucher disease type I. The Romanian experience J Inherit Metab Dis 30 783 789 1:CAS:528:DC%2BD2sXhtFCgsr3P 10.1007/s10545-007- 0621-z (Pubitemid 47559891)
20. MA Faden D Krakow F Ezgu, et al. 2009 The Erlenmeyer flask bone deformity in the skeletal dysplasias Am J Med Gen A 149A 1334 1345 1:CAS:528: DC%2BD1MXotFSgu7Y%3D 10.1002/ajmg.a.32253
21. G Pastores S Wallenstein RJ Desnick, et al. 1996 Bone density in type 1 Gaucher disease J Bone Min Res 11 1801 1807 1:STN:280:DyaK2s%2FntlSnsw%3D%3D 10.1002/jbmr.5650111125
22. MT Moran JP Schofield AR Hayman, et al. 2000 Pathologic gene expresion in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K Blood 96 1969 1978 1:CAS:528:DC%2BD3cXmt1Olsr4%3D 10961902
23. M Watanabe M Yanagisawa S Sonobe, et al. 1984 An adult form of Gaucher's disease with a huge tumour formation of the right tibia Int Orthop 8 195 202 1:STN:280:DyaL2M7ls1Kjsw%3D%3D 10.1007/BF00269916 6530316 (Pubitemid 15125130)
24. H Ozturk M Unsal U Aydingoz, et al. 1998 Pseudotumor formation in tibia in Gaucher's disease Eur J Radiol 26 284 286 1:STN:280:DyaK1c3kvFegug%3D%3D 10.1016/S0720-048X(97)01158-3 9587757 (Pubitemid 28168348)
25. G Hermann R Shapiro F Abdelwahab, et al. 1994 Extraosseous extension of Gaucher cell deposits mimicking malignancy Skelet Radiol 23 253 256 1:STN:280:DyaK2czjslajtQ%3D%3D 10.1007/BF02412357
26. LW Poll JA Koch S vom Dahl, et al. 2000 Type I Gaucher disease: extraosseous extension of skeletal disease Skeletal Radiol 29 15 21 1:STN:280:DC%2BD3c7jtVKlug%3D%3D 10.1007/s002560050003 10663584
27. LW Poll JA Koch S vom Dahl, et al. 2000 Extraosseous manifestation of Gaucher's disease type I: MR and histological appearance Eur Radiol 10 1660 1663 1:STN:280:DC%2BD3crgtVOgtA%3D%3D 10.1007/s003300000446 11044944
28. DW Stowens SL Teitelbaum AJ Kahn, et al. 1985 Skeletal complications of Gaucher disease Medicine 64 310 322 1:STN:280:DyaL2M3psFeksQ%3D%3D 10.1097/00005792-198509000-00003 4033409
29. C Drugan G Jebeleanu P Grigorescu-Sido, et al. 2002 Biochemical markers of bone turnover as tools in the evaluation of skeletal involvement in patients with type 1 Gaucher disease Blood Cells Mol Dis 28 13 20 1:CAS:528: DC%2BD38XjvFeiuw%3D%3D 10.1006/bcmd.2001.0479 11814307 (Pubitemid 34408983)
30. G Ciana C Martini A Leopaldi, et al. 2003 Bone marker alterations in patients with type 1 Gaucher disease Calcif Tissue Int 72 185 189 1:CAS:528:DC%2BD3sXitFCgtr8%3D 10.1007/s00223-001-2072-0 12522660 (Pubitemid 36919522)
31. G Ciana R Addobbati G Tamaro, et al. 2005 Gaucher disease and bone: laboratory and skeletal mineral density variations during a long period of enzyme replacement therapy J Inherit Metab Dis 28 723 732 1:CAS:528: DC%2BD2MXpvVWqu74%3D 10.1007/s10545-005-0032-y 16151904 (Pubitemid 41349260)
32. KB Sims GM Pastores NJ Weinreb, et al. 2008 Improvement of bone disease by imiglucerase (Cerecyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study Clin Genet 73 430 440 1:STN:280:DC%2BD1c3jvFCmsw%3D%3D 10.1111/j.1399-0004.2008. 00978.x 18312448 (Pubitemid 351517258)
33. R Schiffmann H Mankin JM Dambrosia, et al. 2002 Decreased bone density in splenectomized Gaucher patients receiving enzyme replacement therapy Blood Cells Mol Dis 28 288 296 10.1006/bcmd.2002.0517 12064924 (Pubitemid 34743762)
34. CE Fiore R Barone P Pennisi, et al. 2002 Bone ultrasonometry, bone density, and bone turnover markers in type 1 Gaucher disease J Bone Miner Metab 20 24 38 10.1007/s774-002-8444-1 (Pubitemid 34101093)
35. MS Parisi SR Mastaglia A Bagur, et al. 2008 Body composition and bone metabolism in young Gaucher disease type I patients treated with imiglucerase Eur J Med Res 13 31 38 1:CAS:528:DC%2BD1cXkt1yjtLo%3D 18226995
36. P Mikosch M Reed R Baker, et al. 2008 Changes of bone metabolism in seven patients with Gaucher disease treated consecutively with imiglucerase and miglustat Calcif Tissue Int 83 43 54 1:CAS:528:DC%2BD1cXhtVSgurjP 10.1007/s00223-008-9143-4 18553043
37. I Magal E Lebel G Altarescu, et al. 2006 Serum levels of osteoprotegerin and osteoprotegerin polymorphisms in Gaucher disease Br J Haematol 133 93 97 1:CAS:528:DC%2BD28XktFaktbk%3D 16512834
38. P Mikosch M Reed H Stettner, et al. 2009 Patients with Gaucher disease living in England show a high prevalence of vitamin D insufficiency with correlation to osteodensitometry Mol Genet 96 113 120 1:CAS:528: DC%2BD1MXitVOrtbY%3D
39. S Vom Dahl L Poll M Di Rocco, et al. 2006 Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients Curr Med Res Opin 22 1045 1064 1:CAS:528:DC%2BD28XnsFGhsb0%3D 10.1185/030079906X104623 16846538 (Pubitemid 44000726)
40. M Maas LW Poll MR Terk 2002 Imaging and quantifying skeletal involvement in Gaucher disease Br J Radiol 75 Suppl 1 A13 A24 12036829
41. C Hollak M Maas E Akkerman, et al. 2001 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 27 1005 1012 1:STN:280:DC%2BD387js1Wisw%3D%3D 10.1006/bcmd.2001.0474 11831867 (Pubitemid 34163969)
42. M Maas CE Hollak EM Akkermann, et al. 2002 Quantification of skeletal involvement in adults with type 1 Gaucher's disease: fat fraction measured by Dixon quantitative chemical shift imaging as a valid parameter Am J Roentgenol 179 961 965
43. M Maas C van Kuijk J Stoker, et al. 2003 Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging - initial experience Radiology 229 554 561 10.1148/radiol.2292020296 14526090 (Pubitemid 37310846)
44. M Roca J Mota P Alfonso, et al. 2007 S-MRI score: a simple method for assessing bone marrow involvement in Gaucher disease Eur J Radiol 52 132 137 10.1016/j.ejrad.2006.11.024 (Pubitemid 46413626)
45. EJ Vlieger M Maas EM Akkerman, et al. 2002 Vertebral disc ration as a parameter for bone marrow involvement J Comput Assit Tomogr 26 843 848 10.1097/00004728-200209000-00031 (Pubitemid 35423395)
46. LW Poll JA Koch S vom Dahl, et al. 2001 Magnetic resonance imaging of bone marrow changes in Gaucher disease during enzyme replacement therapy: first German long-term results Skelet Radiol 30 496 503 1:STN:280: DC%2BD3MrktVOitw%3D%3D 10.1007/s002560100375 (Pubitemid 32894331)
47. LW Poll M Maas MR Terk, et al. 2002 Response of Gaucher bone disease to enzyme replacement therapy Br J Radiol 75 Suppl 1 A25 A36 1:CAS:528: DC%2BD38Xlt1Oku7c%3D 12036830
48. PL Robertson M Maas J Goldblatt 2007 Semiquantitive assessment of skeletal response to enzyme replacement therapy for Gaucher's disease using the bone marrow burden score Am J Roentgenol 188 1521 1528 10.2214/AJR.06.1410 (Pubitemid 46866853)
49. P Giraldo P Alfonso K Atutxa, et al. 2009 Real-world clinical experience with long term miglustat maintenance therapy in type 1 Gaucher disease: the ZAGAL project Haematologica 94 1771 1775 1:CAS:528:DC%2BC3cXhsVSitb0%3D 10.3324/haematol.2009.008078 19608672
50. M Mass T Hangartner G Mariani, et al. 2008 Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease Skelet Radiol 37 185 188 10.1007/s00256-007-0425-0
51. P Mikosch S Kohlfürst HJ Gallowitsch, et al. 2008 Is there a role for scintigraphic imaging of bone manifestations in Gaucher disease? Nuklearmedizin 47 239 247 1:STN:280:DC%2BD1M%2FoslKltA%3D%3D 19057797
52. TR Bilchik S Heyman 1992 Skeletal scintigraphy of pseudo-osteomyelitis in Gaucher's disease. Two case reports and a review of the literature Clin Nucl Med 17 279 282 1:STN:280:DyaK383ktVyqtQ%3D%3D 10.1097/00003072-199204000-00003 1572115
53. G Mariani M Filocamo F Giona, et al. 2003 Severity of bone marrow involvement in patients with Gaucher's disease evaluated by scintigraphy with 99mTc-sestamibi J Nucl Med 44 1253 1262 12902415
54. G Mariani N Molea L La Civita, et al. 1996 Scintigraphic findings on 99mTc-MDP, 99mTc-sestamibi and 99mTc-HMPAO images in Gaucher's disease Eur J Nucl Med 23 466 470 1:STN:280:DyaK287ns1Cjuw%3D%3D 10.1007/BF01247378 8612670 (Pubitemid 26118336)
55. Mariani G, Erba PA. Radionuclide evaluation of Gaucher disease. In: Futerman T, Zimran A (eds) Gaucher disease. CRC Press, Boca Raton, FL, 2007, pp 283-315
56. Z Rudzki K Okoń M Machaczka, et al. 2003 Enzyme replacement therapy reduces Gaucher cell burden but may accelerate osteopenia in patients with type I disease - histological study Eur J Haematol 70 273 281 1:CAS:528:DC%2BD3sXkt1Sjurs%3D 10.1034/j.1600-0609.2003.00047.x 12694162 (Pubitemid 36560524)
57. RJ Wenstrup KA Kacena P Kaplan, et al. 2007 Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease J Bone Miner Res 21 119 126
58. NJ Weinreb MC Aggio HC Andersson, et al. 2004 International Collaborative Gaucher Group (ICGG). Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients Semin Hematol 41 Suppl 5 15 22 10.1053/j.seminhematol.2004.07.010 15468046 (Pubitemid 39311678)
59. J Charrow JA Esplin TJ Gribble, et al. 1998 Gaucher disease - recommendations on diagnosis, evaluation and monitoring Arch Intern Med 158 1754 1760 1:STN:280:DyaK1cvgvV2rtg%3D%3D 10.1001/archinte.158.16.1754 9738604 (Pubitemid 28421418)
60. Beck M, vom Dahl S, Mengel E, et al. Leitlinie zu Morbus Gaucher. Arbeitsgemeinschaft für Pädiatrische Speichererkrankungen in der Deutschen Gesellschaft für Kinder- und Jugendmedizin ( www.aps-med.de )
61. S Baim CR Wilson EM Lewiecki, et al. 2005 Precision assessment and radiation safety for dual-energy X-ray absorptiometry: position paper of the International Society for Clinical Densitometry J Clin Densitom 8 371 378 10.1385/JCD:8:4:371 16311420
62. SL Morgan W Abercrombie JY Lee 2003 Need for precision studies at individual institutions and assessment of size of regions of interest on serial DXA scans J Clin Densitom 6 97 101 10.1385/JCD:6:2:97 12794231 (Pubitemid 36693803)
63. DP Dimai 2009 Diagnostik der Osteoporose Wien Med Wochenschr 159 241 246 10.1007/s10354-009-0657-9 19484207
64. AB Mehta S Lewis C Laverey 2003 Treatment of lysosomal storage disorders BMJ 327 462 463 10.1136/bmj.327.7413.462 12946951
65. GM Pastores NJ Weinreb H Aerts, et al. 2004 Therapeutic goals in the treatment of Gaucher disease Semin Hematol 41 4 14 10.1053/j.seminhematol.2004. 07.009 15468045 (Pubitemid 39311677)
66. GA Grabowski NW Barton G Pastores, et al. 1995 Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant resources Ann Intern Med 122 33 39 1:STN:280:DyaK2M%2FnslaisA%3D%3D 7985893
67. D Elstein A Abrahamov I Hadas-Halpern, et al. 1998 Low-dose low-frequency imiglucerase as a starting regimen of enzyme replacement therapy for patients with type I Gaucher disease QJM 91 483 488 1:STN:280:DyaK1M%2FhsVKltw%3D%3D 10.1093/qjmed/91.7.483 9797931
68. CE Hollak JM Aerts R Goudsmit, et al. 1995 Individualised low-dose alglucerase therapy for type 1 Gaucher disease Lancet 345 1474 1478 1:CAS:528:DyaK28XjvFCg 10.1016/S0140-6736(95)91037-9 7769902
69. GM Pastores AR Sibille GA Grabowski 1993 Enzyme therapy in Gaucher disease type 1: dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months Blood 82 408 416 1:STN:280:DyaK3szitVCiug%3D%3D 8392397
70. M de Fost CE Hollak JE Groener, et al. 2006 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 108 850 855 10.1182/blood-2005-12-5072 (Pubitemid 44154614)
71. J Tóth FZ Szücs K Benkö, et al. 2003 Enzyme replacement therapy in Gaucher disease: monitoring visceral and bone changes with MRI Orv Hetil 144 749 755 12778625
72. J Charrow B Dulisse GA Grabowski, et al. 2007 The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease Clin Genet 71 205 211 1:STN:280:DC%2BD2s7htVaruw%3D%3D 10.1111/j.1399-0004.2007.00769.x 17309642 (Pubitemid 46322658)
73. NJ Weinreb J Charrow HC Andersson, et al. 2002 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 113 112 119 1:CAS:528:DC%2BD38XlsVKru74%3D 10.1016/S0002-9343(02)01150-6 12133749 (Pubitemid 34804747)
74. N Weinreb J Barranger S Packman, et al. 2007 Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease Clin Genet 71 576 588 1:STN:280:DC%2BD2szislynuw%3D%3D 10.1111/j.1399-0004.2007.00811.x 17539908 (Pubitemid 46831953)
75. E Lebel A Dweck AJ Foldes, et al. 2004 Bone density changes with enzyme therapy in Gaucher disease J Bone Miner Metab 22 597 601 10.1007/s00774-004- 0529-8 15490271 (Pubitemid 39517881)
76. B Bembi M Zanatta M Carrozzi, et al. 1994 Enzyme replacement treatment in type 1 and type 3 Gaucher's disease Lancet 344 1679 1682 1:STN:280: DyaK2M%2FovFCluw%3D%3D 10.1016/S0140-6736(94)90462-6 7996964 (Pubitemid 24371101)
77. H Andersson P Kaplan K Kacena J Yee 2008 Eight-year outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1 Pediatrics 122 1182 1190 10.1542/peds.2007-2144 19047232
78. G Drelichman E Ponce N Basack, et al. 2007 Clinical concequences of interrupting enzyme replacement therapy in children with type 1 Gaucher disease J Pediatr 151 197 201 1:CAS:528:DC%2BD2sXnvF2gtrs%3D 10.1016/j.jpeds.2007.02.057 17643778 (Pubitemid 47069396)
79. P Giraldo P Latre P Alfonso, et al. 2006 Short-term effect of miglustat in every day clinical use in treatment-naive or previously treated patients with type 1 Gaucher's disease Haematologica 91 703 706 1:CAS:528: DC%2BD28Xls1SrtLk%3D 16627252
80. D Elstein C Hollak JM Aerts, et al. 2004 Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease J Inherit Metab Dis 27 757 766 1:CAS:528:DC%2BD2cXovVOjsLw%3D 10.1023/B:BOLI.0000045756.54006.17 15505381 (Pubitemid 39433603)
81. GM Pastores NL Barnett EH Kolodny 2005 An open-label, non-comparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment Clin Ther 27 1215 1227 1:CAS:528:DC%2BD2MXhtFWgurfM 10.1016/j.clinthera.2005.08.004 16199246 (Pubitemid 41393915)
82. G Pastores D Elstein M Hrebicek, et al. 2007 Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational open-label studies Clin Ther 29 1645 1654 1:CAS:528: DC%2BD2sXhtFyjt7jK 10.1016/j.clinthera.2007.08.006 17919546 (Pubitemid 47494543)
83. S Fukomoto T Iwamoto E Sakai, et al. 2006 Current topics in pharmacological research on bone metabolism: osteoclast differentiation regulated by glycoshingolipids J Pharmacol Sci 100 195 200 10.1254/jphs. FMJ05004X3
84. Peterschmitt J, Lukina E, Watman NP, et al. Genz-112638 for Gaucher Disease Type 1: Phase 2 Clinical Trial Results After 18 Months of Treatment. 51st ASH Annual Meeting and Exposition, New Orleans, December 2009, Abstract 1349
85. RJ Wenstrup L Bailey GA Grabowski, et al. 2004 Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy Blood 104 1253 1257 1:CAS:528:DC%2BD2cXnt1ekur0%3D 10.1182/blood-2003- 11-3854 15010365 (Pubitemid 39166496)
86. AA Khan GK Sańdor E Dore, et al. 2008 Canadian consensus practice guidelines for bisphosphonate associated osteonecrosis of the jaw J Rheumatol 35 1391 1397 18528958
87. V Vassiliou N Tselis D Kardamakis 2010 Osteonecrosis of the jaws: clinicopathologic and radiologic characteristics, preventive and therapeutic strategies Strahlenther Onkol 186 367 373 10.1007/s00066-010-2066-9 20437019
88. M Pazianas P Miller WA Blumentals, et al. 2007 A review of the literature on osteonecrosis of the jaw in patients with osteoporosis treated with oral bisphosphonates: prevalence, risk factors, and clinical characteristics Clin Ther 29 1548 1558 1:CAS:528:DC%2BD2sXhtFyjt7jM 10.1016/j.clinthera.2007.08.008 17919538 (Pubitemid 47500128)
89. A Goss M Bartold P Sambrook, et al. 2010 The nature and frequncy of bisphosphonate-associated osteonecrosis of the jaws in dental implant patients: a South Australian case series J Oral Maxillofac Surg 68 337 343 10.1016/j.joms.2009.09.037 20116705
90. Wilde F, Heufelder M, Winter K, et al. The role of surgical therapy in the management of intravenous bisphosphonates-related osteonecrosis of the jaw. Oral Surg Oral Med oral Pathol Oral Radiol Endod, 2010 July 31 (Epub ahead of print)
91. KF Lutsky NC Tejwani 2007 Orthopaedic manifestations of Gaucher disease Bull NYU Hosp Jt Dis 65 37 42 17539760
92. RM Javier E Hachulla 2007 Osteoarticular manifestations of Gaucher disease in adults: pathophysiology and treatment Presse Med 36 1971 1984 10.1016/j.lpm.2007.04.012 17498916 (Pubitemid 350122938)
93. E Lebel M Phillips D Elstein, et al. 2009 Poor results of drilling in early stages of juxta-articular osteonecrosis in 12 joints affected by Gaucher disease Acta Orthop 80 201 204 10.3109/17453670902930032 19404804
94. P Mattsson S Larsson 2003 Stability of internally fixed femoral neck fractures augmented with resorbable cement. A prospective randomized study using radiostereometry Scand J Surg 92 215 219 1:STN:280:DC%2BD3srgsFWnsA%3D%3D 14582545
95. WH Rijnen JW Gardeniers BW Schreurs, et al. 2007 Impacted bone and calcium phosphate cement for repair of femoral head defects: a pilot study Clin Orthop Relat Res 459 216 221 10.1097/BLO.0b013e3180373138 17308484 (Pubitemid 46878220)
96. VY Ng JF Granger TJ Ellis 2010 Calcium phosphate cement to prevent collapse in avascular necrosis of the femoral head Med Hypotheses 74 725 726 1:CAS:528:DC%2BC3cXjtFyjsr0%3D 10.1016/j.mehy.2009.10.039 19948381
97. RF DeMayo AH Haims MC McRae, et al. 2008 Correlation of MRI-based bone marrow burden score with genotype and spleen status in Gaucher's disease AJR 191 115 123 10.2214/AJR.07.3550 18562733 (Pubitemid 351955212)
98. H Ida OM Rennert S Kato, et al. 1999 Severe skeletal complications in Japanese patients with type 1 Gaucher disease J Inherit Metab Dis 22 63 73 1:STN:280:DyaK1M7mvFyhtw%3D%3D 10.1023/A:1005451300167 10070619 (Pubitemid 29078132)