{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,8]],"date-time":"2025-12-08T06:51:06Z","timestamp":1765176666652,"version":"3.40.4"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2025,1,19]],"date-time":"2025-01-19T00:00:00Z","timestamp":1737244800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,1,19]],"date-time":"2025-01-19T00:00:00Z","timestamp":1737244800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Bone Miner Metab"],"published-print":{"date-parts":[[2025,3]]},"DOI":"10.1007\/s00774-024-01573-9","type":"journal-article","created":{"date-parts":[[2025,1,19]],"date-time":"2025-01-19T14:31:24Z","timestamp":1737297084000},"page":"166-173","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Insights into skeletal involvement in adult Gaucher disease: a single-center experience"],"prefix":"10.1007","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0015-9807","authenticated-orcid":false,"given":"Merve","family":"Yolda\u015f \u00c7elik","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ebru","family":"Canda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Havva","family":"Yaz\u0131c\u0131","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fehime","family":"Erdem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ay\u015fe","family":"Y\u00fcksel Yanbolu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayca","family":"Aykut","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asude","family":"Durmaz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sema","family":"Kalkan U\u00e7ar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eser","family":"Y\u0131ld\u0131r\u0131m S\u00f6zmen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahmut","family":"\u00c7oker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,1,19]]},"reference":[{"key":"1573_CR1","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1016\/j.ymgme.2020.12.295","volume":"132","author":"NJ Weinreb","year":"2021","unstructured":"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\u2013111","journal-title":"Mol Genet Metab"},{"key":"1573_CR2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2023.104764","volume":"66","author":"FD Bulut","year":"2023","unstructured":"Bulut FD, Kor D, K\u0131lavuz S, \u015eeker Y\u0131lmaz B, Kaplan \u0130 et al (2023) Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity\u2014transient neonatal cholestasis. Eur J Med Genet 66:104764","journal-title":"Eur J Med Genet"},{"key":"1573_CR3","doi-asserted-by":"publisher","first-page":"996","DOI":"10.1002\/jbmr.3734","volume":"34","author":"D Hughes","year":"2019","unstructured":"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\u20131013","journal-title":"J Bone Miner Res"},{"key":"1573_CR4","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1016\/j.ymgme.2020.07.011","volume":"132","author":"PA Rozenfeld","year":"2021","unstructured":"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\u201385","journal-title":"Mol Genet Metab"},{"key":"1573_CR5","first-page":"1094","volume":"52","author":"A Sibille","year":"1993","unstructured":"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\u20131101","journal-title":"Am J Hum Genet"},{"key":"1573_CR6","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1007\/s00774-004-0529-8","volume":"22","author":"E Lebel","year":"2004","unstructured":"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\u2013601","journal-title":"J Bone Miner Metab"},{"key":"1573_CR7","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0126153","volume":"10","author":"J Gervas-Arruga","year":"2015","unstructured":"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","journal-title":"PLoS ONE"},{"key":"1573_CR8","doi-asserted-by":"publisher","first-page":"112","DOI":"10.3390\/ijms18010112","volume":"18","author":"C Bondar","year":"2017","unstructured":"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","journal-title":"Int J Mol Sci."},{"key":"1573_CR9","doi-asserted-by":"publisher","first-page":"1029130","DOI":"10.3389\/fendo.2022.1029130","volume":"13","author":"MM Ivanova","year":"2022","unstructured":"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","journal-title":"Front Endocrinol (Lausanne)"},{"key":"1573_CR10","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1186\/s13023-017-0700-7","volume":"12","author":"G Devigili","year":"2017","unstructured":"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","journal-title":"Orphanet J Rare Dis"},{"key":"1573_CR11","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1111\/j.1399-0004.2007.00769.x","volume":"71","author":"J Charrow","year":"2007","unstructured":"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\u2013211","journal-title":"Clin Genet"},{"key":"1573_CR12","doi-asserted-by":"publisher","first-page":"3825","DOI":"10.1182\/blood.V104.11.3825.3825","volume":"104","author":"G Grabowski","year":"2004","unstructured":"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","journal-title":"Blood"},{"key":"1573_CR13","first-page":"257","volume":"8","author":"\u00c7S Kasapkara","year":"2021","unstructured":"Kasapkara \u00c7S, Olgac A, Okur \u0130, Ezgu FS, T\u00fcmer L (2021) The evaluation of skeletal manifestations in patients with Gaucher disease. Evaluation 8:257\u2013261","journal-title":"Evaluation"},{"key":"1573_CR14","doi-asserted-by":"publisher","first-page":"438","DOI":"10.1016\/j.ymgme.2011.08.004","volume":"104","author":"O Goker-Alpan","year":"2011","unstructured":"Goker-Alpan O (2011) Therapeutic approaches to bone pathology in Gaucher disease: past, present and future. Mol Genet Metab 104:438\u2013447","journal-title":"Mol Genet Metab"},{"key":"1573_CR15","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1097\/MD.0b013e3182057be4","volume":"90","author":"PB Deegan","year":"2011","unstructured":"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\u201360","journal-title":"Medicine (Baltimore)"},{"key":"1573_CR16","doi-asserted-by":"publisher","first-page":"E448","DOI":"10.1002\/ajh.24486","volume":"91","author":"G Drelichman","year":"2016","unstructured":"Drelichman G, Fern\u00e1ndez 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\u2013E453","journal-title":"Am J Hematol"},{"key":"1573_CR17","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1007\/s11136-004-0794-y","volume":"14","author":"P Giraldo","year":"2005","unstructured":"Giraldo P, Solano V, P\u00e9rez-Calvo JI, Giralt M, Rubio-F\u00e9lix D (2005) Quality of life related to type 1 Gaucher disease: Spanish experience. Qual Life Res 14:453\u2013462","journal-title":"Qual Life Res"},{"key":"1573_CR18","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1186\/s13023-020-01656-6","volume":"16","author":"P Deegan","year":"2021","unstructured":"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","journal-title":"Orphanet J Rare Dis"},{"key":"1573_CR19","doi-asserted-by":"publisher","DOI":"10.1148\/radiol.212779","volume":"307","author":"S D'Amore","year":"2023","unstructured":"D\u2019Amore 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","journal-title":"Radiology"},{"key":"1573_CR20","doi-asserted-by":"publisher","first-page":"1801","DOI":"10.1002\/jbmr.5650111125","volume":"11","author":"GM Pastores","year":"1996","unstructured":"Pastores GM, Wallenstein S, Desnick RJ, Luckey MM (1996) Bone density in Type 1 Gaucher disease. J Bone Miner Res 11:1801\u20131807","journal-title":"J Bone Miner Res"},{"key":"1573_CR21","doi-asserted-by":"publisher","first-page":"723","DOI":"10.1007\/s10545-005-0032-y","volume":"28","author":"G Ciana","year":"2005","unstructured":"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\u2013732","journal-title":"J Inherit Metab Dis"},{"key":"1573_CR22","doi-asserted-by":"publisher","first-page":"437","DOI":"10.3324\/haematol.2019.236083","volume":"106","author":"T Raskovalova","year":"2021","unstructured":"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\u201345","journal-title":"Haematologica."},{"key":"1573_CR23","doi-asserted-by":"publisher","first-page":"262","DOI":"10.1016\/j.bone.2017.07.020","volume":"103","author":"C Bondar","year":"2017","unstructured":"Bondar C, Mucci J, Crivaro A, Ormazabal M, Ceci R et al (2017) In vitro osteoclastogenesis from Gaucher patients\u2019 cells correlates with bone mineral density but not with Chitotriosidase. Bone 103:262\u2013269","journal-title":"Bone"},{"key":"1573_CR24","doi-asserted-by":"publisher","first-page":"2069","DOI":"10.2147\/TCRM.S177480","volume":"14","author":"A Zimmermann","year":"2018","unstructured":"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\u20132080","journal-title":"Ther Clin Risk Manag"},{"key":"1573_CR25","doi-asserted-by":"publisher","first-page":"6651","DOI":"10.1038\/ncomms7651","volume":"6","author":"U Harre","year":"2015","unstructured":"Harre U, Lang SC, Pfeifle R, Rombouts Y, Fr\u00fchbei\u00dfer S et al (2015) Glycosylation of immunoglobulin G determines osteoclast differentiation and bone loss. Nat Commun 6:6651","journal-title":"Nat Commun"},{"key":"1573_CR26","doi-asserted-by":"publisher","first-page":"230","DOI":"10.3389\/fbioe.2019.00230","volume":"7","author":"SB Goodman","year":"2019","unstructured":"Goodman SB, Pajarinen J, Yao Z, Lin T (2019) Inflammation and bone repair: from particle disease to tissue regeneration. Front Bioeng Biotechnol 7:230","journal-title":"Front Bioeng Biotechnol"},{"key":"1573_CR27","doi-asserted-by":"publisher","first-page":"1656","DOI":"10.3390\/nu10111656","volume":"10","author":"F Sassi","year":"2018","unstructured":"Sassi F, Tamone C, D\u2019Amelio P (2018) Vitamin D: nutrient, hormone, and immunomodulator. Nutrients. 10:1656","journal-title":"Nutrients."},{"key":"1573_CR28","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1016\/j.ymgme.2008.12.001","volume":"96","author":"P Mikosch","year":"2009","unstructured":"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\u2013120","journal-title":"Mol Genet Metab"},{"key":"1573_CR29","doi-asserted-by":"publisher","first-page":"650","DOI":"10.1007\/s00223-019-00536-x","volume":"104","author":"B Oliveri","year":"2019","unstructured":"Oliveri B, Gonz\u00e1lez 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\u2013657","journal-title":"Calcif Tissue Int"},{"key":"1573_CR30","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1186\/s13023-020-01520-7","volume":"15","author":"MM Andrade-Campos","year":"2020","unstructured":"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\u2019s disease patients: a machine learning analysis of the Spanish registry of Gaucher disease. Orphanet J Rare Dis 15:256","journal-title":"Orphanet J Rare Dis"},{"key":"1573_CR31","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1186\/s13023-021-02034-6","volume":"16","author":"S D'Amore","year":"2021","unstructured":"D\u2019Amore 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","journal-title":"Orphanet J Rare Dis"}],"container-title":["Journal of Bone and Mineral Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00774-024-01573-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00774-024-01573-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00774-024-01573-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,12]],"date-time":"2025-04-12T21:05:01Z","timestamp":1744491901000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00774-024-01573-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,19]]},"references-count":31,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["1573"],"URL":"https:\/\/doi.org\/10.1007\/s00774-024-01573-9","relation":{},"ISSN":["0914-8779","1435-5604"],"issn-type":[{"type":"print","value":"0914-8779"},{"type":"electronic","value":"1435-5604"}],"subject":[],"published":{"date-parts":[[2025,1,19]]},"assertion":[{"value":"22 September 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 December 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 January 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors state no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"All procedures followed were according to the ethical standards of the local ethical committee of Ege University (approval number: 23\u20136.1\u00a0T\/19), according to the Helsinki Declaration.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Informed consent was obtained from all participants in the study.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}