Weinreb NJ, Camelo JS Jr, Charrow J, McClain MR, Mistry P, Belmatoug N (2021) Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment. Mol Genet Metab 132:100–111
Article CAS PubMed Google Scholar
Bulut FD, Kor D, Kılavuz S, Şeker Yılmaz B, Kaplan İ et al (2023) Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity—transient neonatal cholestasis. Eur J Med Genet 66:104764
Article CAS PubMed Google Scholar
Hughes D, Mikosch P, Belmatoug N, Carubbi F, Cox T et al (2019) Gaucher disease in bone: from pathophysiology to practice. J Bone Miner Res 34:996–1013
Rozenfeld PA, Crivaro AN, Ormazabal M, Mucci JM, Bondar C, Delpino MV (2021) Unraveling the mystery of Gaucher bone density pathophysiology. Mol Genet Metab 132:76–85
Article CAS PubMed Google Scholar
Sibille A, Eng CM, Kim SJ, Pastores G, Grabowski GA (1993) Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications. Am J Hum Genet 52:1094–1101
CAS PubMed PubMed Central Google Scholar
Lebel E, Dweck A, Foldes AJ, Golowa Y, Itzchaki M et al (2004) Bone density changes with enzyme therapy for Gaucher disease. J Bone Miner Metab 22:597–601
Gervas-Arruga J, Cebolla JJ, de Blas I, Roca M, Pocovi M, Giraldo P (2015) The influence of genetic variability and proinflammatory status on the development of bone disease in patients with Gaucher disease. PLoS ONE 10:e0126153
Article PubMed PubMed Central Google Scholar
Bondar C, Ormazabal M, Crivaro A, Ferreyra-Compagnucci M, Delpino MV et al (2017) Osteocyte alterations induce osteoclastogenesis in an in vitro model of Gaucher Disease. Int J Mol Sci. 18:112
Article PubMed PubMed Central Google Scholar
Ivanova MM, Dao J, Kasaci N, Friedman A, Noll L, Goker-Alpan O (2022) Wnt signaling pathway inhibitors, sclerostin and DKK-1, correlate with pain and bone pathology in patients with Gaucher disease. Front Endocrinol (Lausanne) 13:1029130
Devigili G, De Filippo M, Ciana G, Dardis A, Lettieri C et al (2017) Chronic pain in Gaucher disease: skeletal or neuropathic origin? Orphanet J Rare Dis 12:148
Article PubMed PubMed Central Google Scholar
Charrow J, Dulisse B, Grabowski GA, Weinreb NJ (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
Article CAS PubMed Google Scholar
Grabowski G, Charrow J, Weinreb NJ, Dulisse B (2004) Enzyme replacement therapy in gaucher disease: beneficial effects on bone crisis and bone pain. Blood 104:3825
Kasapkara ÇS, Olgac A, Okur İ, Ezgu FS, Tümer L (2021) The evaluation of skeletal manifestations in patients with Gaucher disease. Evaluation 8:257–261
Goker-Alpan O (2011) Therapeutic approaches to bone pathology in Gaucher disease: past, present and future. Mol Genet Metab 104:438–447
Article CAS PubMed Google Scholar
Deegan PB, Pavlova E, Tindall J, Stein PE, Bearcroft P et al (2011) Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy. Medicine (Baltimore) 90:52–60
Article CAS PubMed Google Scholar
Drelichman G, Fernández Escobar N, Basack N, Aversa L, Larroude MS et al (2016) Skeletal involvement in Gaucher disease: an observational multicenter study of prognostic factors in the Argentine Gaucher disease patients. Am J Hematol 91:E448–E453
Article CAS PubMed Google Scholar
Giraldo P, Solano V, Pérez-Calvo JI, Giralt M, Rubio-Félix D (2005) Quality of life related to type 1 Gaucher disease: Spanish experience. Qual Life Res 14:453–462
Deegan P, Khan A, Camelo JS Jr, Batista JL, Weinreb N (2021) 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 16:92
Article PubMed PubMed Central Google Scholar
D’Amore S, Sano H, Chappell DDG, Chiarugi D, Baker O et al (2023) Radiographic cortical thickness index predicts fragility fracture in Gaucher disease. Radiology 307:e212779
Pastores GM, Wallenstein S, Desnick RJ, Luckey MM (1996) Bone density in Type 1 Gaucher disease. J Bone Miner Res 11:1801–1807
Article CAS PubMed Google Scholar
Ciana G, Addobbati R, Tamaro G, Leopaldi A, Nevyjel M 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
Article CAS PubMed Google Scholar
Raskovalova T, Deegan PB, Mistry PK, Pavlova E, Yang R et al (2021) Accuracy of chitotriosidase activity and CCL18 concentration in assessing type I Gaucher disease severity. A systematic review with meta-analysis of individual participant data. Haematologica. 106:437–45
Article CAS PubMed Google Scholar
Bondar C, Mucci J, Crivaro A, Ormazabal M, Ceci R et al (2017) In vitro osteoclastogenesis from Gaucher patients’ cells correlates with bone mineral density but not with Chitotriosidase. Bone 103:262–269
Article CAS PubMed Google Scholar
Zimmermann A, Popp RA, Rossmann H, Bucerzan S, Nascu I et al (2018) Gene variants of osteoprotegerin, estrogen-, calcitonin- and vitamin D-receptor genes and serum markers of bone metabolism in patients with Gaucher disease type 1. Ther Clin Risk Manag 14:2069–2080
Article CAS PubMed PubMed Central Google Scholar
Harre U, Lang SC, Pfeifle R, Rombouts Y, Frühbeißer S et al (2015) Glycosylation of immunoglobulin G determines osteoclast differentiation and bone loss. Nat Commun 6:6651
Article CAS PubMed Google Scholar
Goodman SB, Pajarinen J, Yao Z, Lin T (2019) Inflammation and bone repair: from particle disease to tissue regeneration. Front Bioeng Biotechnol 7:230
Article PubMed PubMed Central Google Scholar
Sassi F, Tamone C, D’Amelio P (2018) Vitamin D: nutrient, hormone, and immunomodulator. Nutrients. 10:1656
Article PubMed PubMed Central Google Scholar
Mikosch P, Reed M, Stettner H, Baker R, Mehta AB, Hughes DA (2009) Patients with Gaucher disease living in England show a high prevalence of vitamin D insufficiency with correlation to osteodensitometry. Mol Genet Metab 96:113–120
Article CAS PubMed Google Scholar
Oliveri B, González D, Quiroga F, Silva C, Rozenfeld P (2019) A comprehensive study of bone manifestations in adult gaucher disease Type 1 patients in Argentina. Calcif Tissue Int 104:650–657
Article CAS PubMed Google Scholar
Andrade-Campos MM, de Frutos LL, Cebolla JJ, Serrano-Gonzalo I, Medrano-Engay B et al (2020) 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 15:256
Article PubMed PubMed Central Google Scholar
D’Amore S, Page K, Donald A, Taiyari K, Tom B et al (2021) In-depth phenotyping for clinical stratification of Gaucher disease. Orphanet J Rare Dis 16:431
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