{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:37:37Z","timestamp":1762004257025},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2010,4,25]],"date-time":"2010-04-25T00:00:00Z","timestamp":1272153600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clin Rheumatol"],"published-print":{"date-parts":[[2010,9]]},"DOI":"10.1007\/s10067-010-1464-9","type":"journal-article","created":{"date-parts":[[2010,4,24]],"date-time":"2010-04-24T03:25:13Z","timestamp":1272079513000},"page":"1037-1041","source":"Crossref","is-referenced-by-count":12,"title":["Effect of vitamin D receptor (VDR) genotypes on the risk for osteoporosis in type 1 Gaucher disease"],"prefix":"10.1007","volume":"29","author":[{"given":"Allen","family":"Greenwood","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborah","family":"Elstein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ari","family":"Zimran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gheona","family":"Altarescu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2010,4,25]]},"reference":[{"key":"1464_CR1","first-page":"3635","volume-title":"The metabolic and molecular bases of inherited diseases","author":"E Beutler","year":"2001","unstructured":"Beutler E, Grabowski GA (2001) Gaucher disease. In: Scriver CR, Valle D, Beudet A, Sly WS (eds) The metabolic and molecular bases of inherited diseases, vol III. McGraw-Hill, New York, pp 3635\u20133668"},{"key":"1464_CR2","first-page":"793","volume":"10","author":"D Elstein","year":"1997","unstructured":"Elstein D, Itzchaki M, Mankin HJ (1997) Skeletal involvement in Gaucher disease. Clin Haematol 10:793\u2013816","journal-title":"Clin Haematol"},{"key":"1464_CR3","first-page":"20","volume":"32","author":"GM Pastores","year":"1995","unstructured":"Pastores GM, Einhorn TA (1995) Skeletal complications of Gaucher disease: pathophysiology, evaluation and treatment. Semin Hematol 32:20\u201327","journal-title":"Semin Hematol"},{"key":"1464_CR4","doi-asserted-by":"crossref","first-page":"1464","DOI":"10.1056\/NEJM199105233242104","volume":"324","author":"NW Barton","year":"1991","unstructured":"Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, Mankin HJ, Murray GJ, Parker RI, Argoff CE et al (1991) Replacement therapy for inherited enzyme deficiency: macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med 324:1464\u20131470","journal-title":"N Engl J Med"},{"key":"1464_CR5","doi-asserted-by":"crossref","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 I Gaucher disease. J Bone Min Res 11:1801\u20131807","journal-title":"J Bone Min Res"},{"issue":"5","key":"1464_CR6","doi-asserted-by":"crossref","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, Ronfani L, Vidoni L, Pittis MG, Bembi B (2005) Gaucher disease and bone: laboratory and skeletal mineral density variations during a long period of enzyme replacement therapy. J Inherit Metab Dis 28(5):723\u2013732","journal-title":"J Inherit Metab Dis"},{"issue":"5","key":"1464_CR7","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1111\/j.1399-0004.2008.00978.x","volume":"73","author":"KB Sims","year":"2008","unstructured":"Sims KB, Pastores GM, Weinreb NJ, Barranger J, Rosenbloom BE, Packman S, Kaplan P, Mankin H, Xavier R, Angell J, Fitzpatrick MA, Rosenthal D (2008) Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study. Clin Genet 73(5):430\u2013440","journal-title":"Clin Genet"},{"issue":"1","key":"1464_CR8","first-page":"31","volume":"13","author":"MS Parisi","year":"2008","unstructured":"Parisi MS, Mastaglia SR, Bagur A, Goldstein G, Zeni SN, Oliveri B (2008) Body composition and bone metabolism in young Gaucher disease type I patients treated with imiglucerase. Eur J Med Res 13(1):31\u201338","journal-title":"Eur J Med Res"},{"issue":"9","key":"1464_CR9","first-page":"3116","volume":"85","author":"DL Koller","year":"2000","unstructured":"Koller DL, Econs MJ, Morin PA, Christian JC, Hui SL, Parry P, Curran ME, Rodriguez LA, Conneally PM, Joslyn G, Peacock M, Johnston CC, Foroud T (2000) Genome screen for QTLs contributing to normal variation in bone mineral density and osteoporosis. J Clin Endocrinol Metab 85(9):3116\u20133120","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"1464_CR10","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/j.mam.2005.01.002","volume":"26","author":"SL Ferrari","year":"2005","unstructured":"Ferrari SL, Rizzoli R (2005) Gene variants for osteoporosis and their pleiotropic effects in aging. Mol Aspects Med 26(3):145\u2013167","journal-title":"Mol Aspects Med"},{"key":"1464_CR11","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.cca.2006.02.016","volume":"371","author":"JM Valdivielso","year":"2006","unstructured":"Valdivielso JM, Fernandez E (2006) Vitamin D receptor polymorphisms and diseases. Clin Chim Acta 371:1\u201312","journal-title":"Clin Chim Acta"},{"issue":"6","key":"1464_CR12","first-page":"843","volume":"21","author":"D Alvarez-Hernandez","year":"2008","unstructured":"Alvarez-Hernandez D, Naves-Diaz M, Gomez-Alonso C, Coto E, Cannata-Andia JB (2008) Tissue-specific effect of VDR gene polymorphisms on the response to calcitriol. J Nephrol 21(6):843\u2013849","journal-title":"J Nephrol"},{"issue":"3","key":"1464_CR13","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1359\/JBMR.0301265","volume":"19","author":"A Thakkinstian","year":"2004","unstructured":"Thakkinstian A, D'Este C, Eisman J, Nguyen T, Attia J (2004) Meta-analysis of molecular association studies: vitamin D receptor gene polymorphisms and BMD as a case study. J Bone Miner Res 19(3):419\u2013428","journal-title":"J Bone Miner Res"},{"issue":"10","key":"1464_CR14","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1007\/s10067-009-1220-1","volume":"28","author":"U Dundar","year":"2009","unstructured":"Dundar U, Solak M, Kavuncu V, Ozdemir M, Cakir T, Yildiz H, Evcik D (2009) Evidence of association of Vitamin D receptor Apa I gene polymorphism with bone mineral density in postmenopausal women with osteoporosis. Clin Rheumatol 28(10):1187\u20131191","journal-title":"Clin Rheumatol"},{"issue":"5","key":"1464_CR15","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1007\/s00774-007-0769-5","volume":"25","author":"W Horst-Sikorska","year":"2007","unstructured":"Horst-Sikorska W, Kalak R, Wawrzyniak A, Marcinkowska M, Celczynska-Bajew L, Slomski R (2007) Association analysis of the polymorphisms of the VDR gene with bone mineral density and the occurrence of fractures. J Bone Miner Metab 25(5):310\u2013319","journal-title":"J Bone Miner Metab"},{"issue":"5","key":"1464_CR16","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1080\/07853890510011958","volume":"37","author":"T Remes","year":"2005","unstructured":"Remes T, Vaisanen SB, Mahonen A, Huuskonen J, Kroger H, Jurvelin JS, Rauramaa R (2005) Bone mineral density, body height, and vitamin D receptor gene polymorphism in middle-aged men. Ann Med 37(5):383\u2013392","journal-title":"Ann Med"},{"issue":"3","key":"1464_CR17","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1677\/JME-08-0108","volume":"42","author":"S Mencej-Bedrac","year":"2009","unstructured":"Mencej-Bedrac S, Prezelj J, Kocjan T, Teskac K, Ostanek B, Smelcer M, Marc J (2009) The combinations of polymorphisms in vitamin D receptor, osteoprotegerin and tumour necrosis factor superfamily member 11 genes are associated with bone mineral density. J Mol Endocrinol 42(3):239\u2013247","journal-title":"J Mol Endocrinol"},{"issue":"9","key":"1464_CR18","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1007\/s00296-008-0550-7","volume":"28","author":"E Arnheim","year":"2008","unstructured":"Arnheim E, Chicco G, Phillips M, Lebel E, Foldes AJ, Itzchaki M, Elstein D, Zimran A, Altarescu G (2008) Molecular aspects of osteopathy in type 1 Gaucher disease: correlation between genetics and bone density. Rheumatol Int 28(9):873\u2013877","journal-title":"Rheumatol Int"},{"issue":"6","key":"1464_CR19","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1359\/jbmr.070317","volume":"22","author":"E Grundberg","year":"2007","unstructured":"Grundberg E, Lau EM, Pastinen T, Kindmark A, Nilsson O, Ljunggren O, Mellstr\u00f6m D, Orwoll E, Redlund-Johnell I, Holmberg A, Gurd S, Leung PC, Kwok T, Ohlsson C, Mallmin H, Br\u00e4ndstr\u00f6m H (2007) Vitamin D receptor 3\u2032 haplotypes are unequally expressed in primary human bone cells and associated with increased fracture risk: the MrOS Study in Sweden and Hong Kong. J Bone Miner Res 22(6):832\u2013840","journal-title":"J Bone Miner Res"},{"key":"1464_CR20","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/S0140-6736(89)90536-9","volume":"2","author":"A Zimran","year":"1989","unstructured":"Zimran A, Sorge J, Gross E, Kubitz M, West C, Beutler E (1989) Prediction of severity of Gaucher's disease by identification of mutations at DNA level. Lancet 2:349\u2013352","journal-title":"Lancet"},{"key":"1464_CR21","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1159\/000113170","volume":"61","author":"C Cooper","year":"2008","unstructured":"Cooper C, Harvey N, Javaid K, Hanson M, Dennison E (2008) Growth and bone development. Nestle Nutr Workshop Ser Pediatr Program 61:53\u201368","journal-title":"Nestle Nutr Workshop Ser Pediatr Program"},{"issue":"5","key":"1464_CR22","first-page":"340","volume":"4","author":"M Eckstein","year":"2002","unstructured":"Eckstein M, Vered I, Ish-Shalom S, Shlomo AB, Shtriker A, Koren-Morag N, Friedman E (2002) Vitamin D and calcium-sensing receptor genotypes in men and premenopausal women with low bone mineral density. Isr Med Assoc J 4(5):340\u2013344","journal-title":"Isr Med Assoc J"},{"issue":"4","key":"1464_CR23","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1089\/gte.2004.8.417","volume":"8","author":"R Dresner-Pollak","year":"2004","unstructured":"Dresner-Pollak R, Ackerman Z, Eliakim R, Karban A, Chowers Y, Fidder HH (2004) The BsmI vitamin D receptor gene polymorphism is associated with ulcerative colitis in Jewish Ashkenazi patients. Genet Test 8(4):417\u2013420","journal-title":"Genet Test"},{"issue":"4","key":"1464_CR24","doi-asserted-by":"crossref","first-page":"255","DOI":"10.7326\/0003-4819-145-4-200608150-00005","volume":"145","author":"AG Uitterlinden","year":"2006","unstructured":"Uitterlinden AG, Ralston SH, Brandi ML, Carey AH, Grinberg D, Langdahl BL, Lips P, Lorenc R, Obermayer-Pietsch B, Reeve J, Reid DM, Amedei A, Bassiti A, Bustamante M, Husted LB, Diez-Perez A, Dobnig H, Dunning AM, Enjuanes A, Fahrleitner-Pammer A, Fang Y, Karczmarewicz E, Kruk M, van Leeuwen JP, Mavilia C, van Meurs JB, Mangion J, McGuigan FE, Pols HA, Renner W, Rivadeneira F, van Schoor NM, Scollen S, Sherlock RE, Ioannidis JP, APOSS Investigators; EPOS Investigators; EPOLOS Investigators; FAMOS Investigators; LASA Investigators; Rotterdam Study Investigators; GENOMOS Study (2006) The association between common vitamin D receptor gene variations and osteoporosis: a participant-level meta-analysis. Ann Intern Med 145(4):255\u2013264","journal-title":"Ann Intern Med"},{"key":"1464_CR25","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1046\/j.1365-2362.2000.00686.x","volume":"30","author":"BL Langdahl","year":"2000","unstructured":"Langdahl BL, Gravholt CH, Brixen K, Eriksen EF (2000) Polymorphisms in the vitamin D receptor gene and bone mass, bone turnover and osteoporotic fractures. Eur J Clin Invest 30:608\u2013617","journal-title":"Eur J Clin Invest"},{"issue":"6","key":"1464_CR26","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1002\/jbmr.5650100622","volume":"10","author":"BL Riggs","year":"1995","unstructured":"Riggs BL, Nguyen TV, Melton LJ 3rd, Morrison NA, O'Fallon WM, Kelly PJ, Egan KS, Sambrook PN, Muhs JM, Eisman JA (1995) The contribution of vitamin D receptor gene alleles to the determination of bone mineral density in normal and osteoporotic women. J Bone Miner Res 10(6):991\u2013996","journal-title":"J Bone Miner Res"},{"issue":"1","key":"1464_CR27","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.maturitas.2006.01.003","volume":"55","author":"S Mitra","year":"2006","unstructured":"Mitra S, Desai M, Ikram Khatkhatay M (2006) Vitamin D receptor gene polymorphisms and bone mineral density in postmenopausal Indian women. Maturitas 55(1):27\u201335","journal-title":"Maturitas"},{"key":"1464_CR28","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1080\/07853890510011958","volume":"37","author":"T Remes","year":"2005","unstructured":"Remes T, V\u00e4is\u00e4nen SB, Mahonen A, Huuskonen J, Kr\u00f6ger H, Jurvelin JS, Rauramaa R (2005) Bone mineral density, body height, and vitamin D receptor gene polymorphism in middle-aged men. Ann Med 37:383\u2013392","journal-title":"Ann Med"},{"key":"1464_CR29","doi-asserted-by":"crossref","first-page":"6575","DOI":"10.1210\/jc.2005-1153","volume":"90","author":"TV Nguyen","year":"2005","unstructured":"Nguyen TV, Esteban LM, White CP, Grant SF, Center JR, Gardiner EM, Eisman JA (2005) Contribution of the collagen I alpha1 and vitamin D receptor genes to the risk of hip fracture in elderly women. J Clin Endocrinol Metab 90:6575\u20136579","journal-title":"J Clin Endocrinol Metab"}],"container-title":["Clinical Rheumatology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10067-010-1464-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10067-010-1464-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10067-010-1464-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,29]],"date-time":"2019-05-29T08:51:41Z","timestamp":1559119901000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10067-010-1464-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,4,25]]},"references-count":29,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2010,9]]}},"alternative-id":["1464"],"URL":"https:\/\/doi.org\/10.1007\/s10067-010-1464-9","relation":{},"ISSN":["0770-3198","1434-9949"],"issn-type":[{"value":"0770-3198","type":"print"},{"value":"1434-9949","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,4,25]]}}}