REFERENCES
1. Roh J, Subramanian S, Weinreb NJ, Kartha RV. Gaucher disease-more than just a rare lipid storage disease. J Mol Med. 2022;100:499-518.
2. Grabowski GA, Kishnani PS, Alcalay RN, et al. Challenges in Gaucher disease: perspectives from an expert panel. Mol Genet Metab. 2025;145:109074.
3. Weinreb NJ, Camelo JS, Charrow J, Mcclain MR, Mistry P, Belmatoug N. Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment. Mol Genet Metab. 2021;132:100-11.
4. Weinreb NJ, Goker-alpan O, Kishnani PS, et al. The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here? Mol Genet Metab. 2022;136:4-21.
5. Marcucci G, Zimran A, Bembi B, et al. Gaucher disease and bone manifestations. Calcif Tissue Int. 2014;95:477-94.
6. Hughes D, Mikosch P, Belmatoug N, et al. Gaucher disease in bone: from pathophysiology to practice. J Bone Miner Res. 2019;34:996-1013.
7. Hernandez CJ, Van Der Meulen MC. Understanding bone strength is not enough. J Bone Miner Res. 2017;32:1157-62.
8. Zebaze R, Ebeling PR. Disorganization and Musculoskeletal diseases: novel insights into the enigma of unexplained bone abnormalities and fragility fractures. Curr Osteoporos Rep. 2022;21:154-66.
9. Gupta N, Patel H, Kasmenn M, et al. Temporal and regional trends of fractures in the United States: a review of the global burden of disease database. J Orthop. 2025;62:207-15.
10. Weinreb NJ. The international cooperative Gaucher group (ICCG) Gaucher registry. Best Pract Res Clin Haematol. 2023;36:101522.
11. 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;160:2835.
12. Deegan PB, Pavlova E, Tindall J, et al. Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy. Medicine. 2011;90:52-60.
13. Javier R, Hachulla E, Rose C, et al. Vertebral fractures in Gaucher disease type I: data from the French “Observatoire” on Gaucher disease (FROG). Osteoporos Int. 2010;22:1255-61.
14. Stirnemann J, Vigan M, Hamroun D, et al. The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients. Orphanet J Rare Dis. 2012;7:77.
15. Xu B, Radojčić MR, Anderson DB, et al. Trends in prevalence of fractures among adults in the United States, 1999-2020: a population-based study. Int J Surg. 2024;110:721-32.
16. Deegan P, Khan A, Camelo JS, Batista JL, Weinreb N. The International Collaborative Gaucher Group GRAF (gaucher risk assessment for fracture) score: a composite risk score for assessing adult fracture risk in imiglucerase-treated Gaucher disease type 1 patients. Orphanet J Rare Dis. 2021;16:92.
17. 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. J Bone Miner Res. 2012;27:1839-48.
18. Weinreb NJ, Cappellini MD, Cox TM, et al. A validated disease severity scoring system for adults with type 1 Gaucher disease. Genet Med. 2010;12:44-51.
19. Weinreb NJ, Finegold DN, Feingold E, et al. Evaluation of disease burden and response to treatment in adults with type 1 gaucher disease using a validated disease severity scoring system (DS3). Orphanet J Rare Dis. 2015;10:64.
20. Mistry PK, Batista JL, Andersson HC, et al. Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher registry. Am J Hematol. 2017;92:929-39.
21. Charlson M, Szatrowski TP, Peterson J, Gold J. Validation of a combined comorbidity index. J Clin Epidemiol. 1994;47:1245-51.
22. Pan Z, Zeng J, Li T, et al. Age-adjusted Charlson comorbidity index is associated with the risk of osteoporosis in older fall-prone men: a retrospective cohort study. BMC Geriatr. 2024;24:413.
23. Kahwati LC, Kistler CE, Booth G, et al. Screening for osteoporosis to prevent fractures: a systematic evidence review for the US preventive services task force. JAMA. 2025;333:509.
24. Gewiess J, Albers CE, Keel MJB, Frihagen F, Rommens PM, Bastian JD. Chronic pelvic insufficiency fractures and their treatment. Arch Orthop Trauma Surg. 2024;145:76.
25. Stiles AR, Jung S, Evard R, et al. Recognizing Gaucher disease in the fifth decade and beyond: a retrospective case study in patients of Ashkenazi Jewish descent. Rare Dis Orphan Drugs J. 2025;4:34.
26. Zimran A, Gross E, West C, Sorge J, Kubitz M, Beutler E. Prediction of severity of Gaucher’s disease by identification of mutations at dna leveL. Lancet. 1989;334:349-52.
27. Di Rocco M, Giona F, Carubbi F, et al. A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease. Haematologica. 2008;93:1211-8.
28. Lollert A, Laudemann K, Mengel E, et al. Retrospective analysis of whole-body magnetic resonance imaging of bone manifestations in long-term treated patients with Gaucher disease type 1. Klin Padiatr. 2018;231:52-9.
29. Paskulin LD, Starosta RT, Bertholdo D, Vairo FP, Vedolin L, Schwartz IVD. Bone marrow burden score is not useful as a follow-up parameter in stable patients with type 1 Gaucher disease after 5 years of treatment. Blood Cells Mol Dis. 2021;90:102591.
30. Lai JK, Robertson PL, Goh C, Szer J. Intraobserver and interobserver variability of the bone marrow burden (BMB) score for the assessment of disease severity in Gaucher disease. Possible impact of reporting experience. Blood Cells Mol Dis. 2018;68:121-5.
31. Ganz ML, Stern S, Ward A, et al. A new framework for evaluating the health impacts of treatment for Gaucher disease type 1. Orphanet J Rare Dis. 2017;12:38.
32. Hoong CWS, Saul D, Khosla S, Sfeir JG. Advances in the management of osteoporosis. BMJ. 2025;390:e081250.
33. Andrade-campos MM, De Frutos LL, Cebolla JJ, et al. Identification of risk features for complication in Gaucher’s disease patients: a machine learning analysis of the Spanish registry of Gaucher disease. Orphanet J Rare Dis. 2020;15:256.
34. Vilaca T, Schini M, Lui L, et al. The relationship between treatment-related changes in total hip BMD measured after 12, 18, and 24 mo and fracture risk reduction in osteoporosis clinical trials: the FNIH-ASBMR-SABRE project. J Bone Miner Res. 2024;39:1434-42.
35. Chen P, Miller PD, Delmas PD, Misurski DA, Krege JH. Change in lumbar spine BMD and vertebral fracture risk reduction in teriparatide-treated postmenopausal women with osteoporosis. J Bone Miner Res. 2006;21:1785-90.
36. Austin M, Yang Y, Vittinghoff E, et al. ; for the FREEDOM Trial. Relationship between bone mineral density changes with denosumab treatment and risk reduction for vertebral and nonvertebral fractures. J Bone Miner Res. 2012;27:687-93.
37. Graeff C, Campbell GM, Peña J, et al. Administration of romosozumab improves vertebral trabecular and cortical bone as assessed with quantitative computed tomography and finite element analysis. Bone. 2015;81:364-9.
38. Damm T, Libanati C, Peña J, et al. Romosozumab significantly improves vertebral cortical bone mass and structure compared with teriparatide, whereas both treatments increase vertebral trabecular bone mass similarly: high-resolution quantitative computed tomography analyses of randomized controlled trial results in postmenopausal women with low bone mineral density. JBMR Plus. 2025;9:ziaf119.
39. Deegan P, Lau H, Elstein D, et al. Long-term treatment of Gaucher disease with velaglucerase alfa in ERT-Naïve patients from the gaucher outcome survey (GOS) registry. J Clin Med. 2024;13:2782.
40. Elstein D, Belmatoug N, Bembi B, et al. Twelve years of the gaucher outcomes survey (GOS): insights, achievements, and lessons learned from a Global patient registry. JCM. 2024;13:3588.
41. Meddeb Z, Ben Younes N, Abida H, et al. Bone involvement in Gaucher disease: data from a North African registry. Reumatol Clin. 2025;21:501996.
42. Luettel DM, Terluk MR, Roh J, Weinreb NJ, Kartha RV. Emerging biomarkers in Gaucher disease. In: Advances in Clinical Chemistry. Elsevier; 2025. pp. 1-56.
43. Wenstrup RJ, Bailey L, Grabowski GA, et al. Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy. Blood. 2004;104:1253-7.
45. International Osteoporosis Foundation. Risk factors for Osteoporosis. Available from: https://www.osteoporosis.foundation/patients/about-osteoporosis/risk-factors. [Last accessed on 26 Mar 2026].
46. Katz K, Cohen IJ, Ziv N, Grunebaum M, Zaizov R, Yosipovitch Z. Fractures in children who have Gaucher disease. J Bone Joint Surg Am. 1987;69:1361-70.
47. Lutsky KF, Tejwani NC. Orthopaedic manifestations of Gaucher disease. Bull NYU Hosp Jt Dis. 2007;65:37-42.
48. Binnetoglu E, Komurcu E, Sen H, Kizildag B. Gaucher disease with pathological femoral neck fracture. BMJ Case Rep. 2013;2013:bcr2013200260.
49. Stowens DW, Teitelbaum SL, Kahn AJ, Barranger JA. Skeletal complications of Gaucher disease. Medicine. 1985;64:310-22.
50. Lebel E, Itzchaki M, Hadas-halpern I, Zimran A, Elstein D. Outcome of total hip arthroplasty in patients with Gaucher disease. J Arthroplasty. 2001;16:7-12.
51. Lebel E, Elstein D, Zimran A, Itzchaki M. Cementless total hip arthroplasties in Gaucher disease: long-term follow-up. Am J Orthop. 2009;38:130-2.
52. Cohen D, Kogan D, Rubin A, Zimran A, Lebel E. Longevity of total hip arthroplasty implants in patients with Gaucher disease. HIP International. 2019;30:147-51.
53. Bubbar V, Heras FL, Amato D, Pritzker KPH, Gross AE. Total hip replacement in Gaucher’s disease: effects of enzyme replacement therapy. J Bone Joint Surg Br. 2009;91-B:1623-7.
54. Grass A, Riemer E, Zimran A, et al. Anesthetic approaches and perioperative complications of total hip arthroplasty in Gaucher disease: a control-matched retrospective-cohort study. Life. 2023;13:1716.
55. Mamonov VE, Chabaeva YA, Khomenko VA, Ponomarev RV, Lukina EA. Total hip arthroplasty in patients with Gaucher disease: characteristics and outcomes. NN Priorov J Traumatol Orthop. 2025;32:347-59.
56. Dinur T, Zimran A, Becker-cohen M, et al. Long term follow-up of 103 untreated adult patients with type 1 Gaucher disease. JCM. 2019;8:1662.
57. Tang Z, Shen K, Kejriwal M. An evaluation of estimative uncertainty in large language models. npj Complex. 2026;3:8.
58. Qaseem A, Hicks LA, Etxeandia-Ikobaltzeta I, et al. Pharmacologic treatment of primary osteoporosis or low bone mass to prevent fractures in adults: a living clinical guideline from the American college of physicians. Ann Intern Med. 2023;176:224-38.
59. Stokes G, Herath M, Samad N, Trinh A, Milat F. Bone health-across a woman’s lifespan. Clin Endocrinol. 2025;102:389-402.
60. Marcucci G, Brandi ML. The diagnosis and therapy of osteoporosis in Gaucher disease. Calcif Tissue Int. 2025;116:31.
