{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T15:15:33Z","timestamp":1786979733485,"version":"build-2736575974"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2008,11,4]],"date-time":"2008-11-04T00:00:00Z","timestamp":1225756800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Osteoporos Int"],"published-print":{"date-parts":[[2009,7]]},"DOI":"10.1007\/s00198-008-0775-z","type":"journal-article","created":{"date-parts":[[2008,11,3]],"date-time":"2008-11-03T13:20:23Z","timestamp":1225718423000},"page":"1273-1278","source":"Crossref","is-referenced-by-count":45,"title":["A case of familial tumoral calcinosis\/hyperostosis\u2013hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features"],"prefix":"10.1007","volume":"20","author":[{"given":"C. E.","family":"Dumitrescu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. H.","family":"Kelly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Khosravi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T. C.","family":"Hart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Brahim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. E.","family":"White","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. G.","family":"Farrow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. H.","family":"Nathan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. D.","family":"Murphey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. T.","family":"Collins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2008,11,4]]},"reference":[{"issue":"3","key":"775_CR1","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1093\/hmg\/ddi034","volume":"14","author":"A Benet-Pages","year":"2004","unstructured":"Benet-Pages A, Orlik P, Strom TM, Lorenz-Depiereux B (2004) An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. Hum Mol Genet 14(3):385\u2013390","journal-title":"Hum Mol Genet"},{"issue":"6","key":"775_CR2","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1038\/ng1358","volume":"36","author":"O Topaz","year":"2004","unstructured":"Topaz O, Shurman DL, Bergman R, Indelman M, Ratajczak P, Mizrachi M, Khamaysi Z, Behar D, Petronius D, Friedman V, Zelikovic I, Raimer S, Metzker A, Richard G, Sprecher E (2004) Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat Genet 36(6):579\u2013581","journal-title":"Nat Genet"},{"issue":"9","key":"775_CR3","doi-asserted-by":"crossref","first-page":"2684","DOI":"10.1172\/JCI31330","volume":"117","author":"S Ichikawa","year":"2007","unstructured":"Ichikawa S, Imel EA, Kreiter ML, Yu X, Mackenzie DS, Sorenson AH, Goetz R, Mohammadi M, White KE, Econs MJ (2007) A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. J Clin Invest 117(9):2684\u20132691","journal-title":"J Clin Invest"},{"issue":"1","key":"775_CR4","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1007\/s00109-004-0610-8","volume":"83","author":"Y Frishberg","year":"2005","unstructured":"Frishberg Y, Topaz O, Bergman R, Behar D, Fisher D, Gordon D, Richard G, Sprecher E (2005) Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis\u2013hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. J Mol Med 83(1):33\u201338","journal-title":"J Mol Med"},{"issue":"5","key":"775_CR5","doi-asserted-by":"crossref","first-page":"1943","DOI":"10.1210\/jc.2006-1825","volume":"92","author":"S Ichikawa","year":"2007","unstructured":"Ichikawa S, Guigonis V, Imel EA, Courouble M, Heissat S, Henley JD, Sorenson AH, Petit B, Lienhardt A, Econs MJ (2007) Novel GALNT3 mutations causing hyperostosis\u2013hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations. J Clin Endocrinol Metab 92(5):1943\u20131947","journal-title":"J Clin Endocrinol Metab"},{"issue":"11","key":"775_CR6","doi-asserted-by":"crossref","first-page":"4472","DOI":"10.1210\/jc.2006-1247","volume":"91","author":"S Ichikawa","year":"2006","unstructured":"Ichikawa S, Imel EA, Sorenson AH, Severe R, Knudson P, Harris GJ, Shaker JL, Econs MJ (2006) Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene. J Clin Endocrinol Metab 91(11):4472\u20134475","journal-title":"J Clin Endocrinol Metab"},{"issue":"4","key":"775_CR7","doi-asserted-by":"crossref","first-page":"2420","DOI":"10.1210\/jc.2004-2302","volume":"90","author":"S Ichikawa","year":"2005","unstructured":"Ichikawa S, Lyles KW, Econs MJ (2005) A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive. J Clin Endocrinol Metab 90(4):2420\u20132423","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"775_CR8","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1172\/JCI18399","volume":"112","author":"M Riminucci","year":"2003","unstructured":"Riminucci M, Collins MT, Fedarko NS, Cherman N, Corsi A, White KE, Waguespack S, Gupta A, Hannon T, Econs MJ, Bianco P, Gehron Robey P (2003) FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. J Clin Invest 112(5):683\u2013692","journal-title":"J Clin Invest"},{"issue":"1","key":"775_CR9","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1677\/JOE-07-0095","volume":"194","author":"MS Razzaque","year":"2007","unstructured":"Razzaque MS, Lanske B (2007) The emerging role of the fibroblast growth factor-23-klotho axis in renal regulation of phosphate homeostasis. J Endocrinol 194(1):1\u201310","journal-title":"J Endocrinol"},{"issue":"27","key":"775_CR10","doi-asserted-by":"crossref","first-page":"18370","DOI":"10.1074\/jbc.M602469200","volume":"281","author":"K Kato","year":"2006","unstructured":"Kato K, Jeanneau C, Tarp MA, Benet-Pages A, Lorenz-Depiereux B, Bennett EP, Mandel U, Strom TM, Clausen H (2006) Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. J Biol Chem 281(27):18370\u201318377","journal-title":"J Biol Chem"},{"issue":"2","key":"775_CR11","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1359\/jbmr.061105","volume":"22","author":"Y Frishberg","year":"2007","unstructured":"Frishberg Y, Ito N, Rinat C, Yamazaki Y, Feinstein S, Urakawa I, Navon-Elkan P, Becker-Cohen R, Yamashita T, Araya K, Igarashi T, Fujita T, Fukumoto S (2007) Hyperostosis\u2013hyperphosphatemia syndrome: a congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 23. J Bone Miner Res 22(2):235\u2013242","journal-title":"J Bone Miner Res"},{"issue":"2","key":"775_CR12","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.cmet.2007.07.007","volume":"6","author":"GJ Strewler","year":"2007","unstructured":"Strewler GJ (2007) Untangling klotho\u2019s role in calcium homeostasis. Cell Metab 6(2):93\u201395","journal-title":"Cell Metab"},{"key":"775_CR13","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1530\/EJE-08-0011","volume":"158","author":"H Olauson","year":"2008","unstructured":"Olauson H, Krajisnik T, Larsson C, Lindberg B, Larsson T (2008) A novel missense mutation in GALNT3 causing hyperostosis\u2013hyperphosphatemia syndrome. Eur J Endocrinol 158:929\u2013934","journal-title":"Eur J Endocrinol"},{"issue":"17","key":"775_CR14","doi-asserted-by":"crossref","first-page":"1656","DOI":"10.1056\/NEJMoa020881","volume":"348","author":"KB Jonsson","year":"2003","unstructured":"Jonsson KB, Zahradnik R, Larsson T, White KE, Sugimoto T, Imanishi Y, Yamamoto T, Hampson G, Koshiyama H, Ljunggren O, Oba K, Yang IM, Miyauchi A, Econs MJ, Lavigne J, Juppner H (2003) Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. N Engl J Med 348(17):1656\u20131663","journal-title":"N Engl J Med"},{"issue":"3","key":"775_CR15","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1038\/81664","volume":"26","author":"The ADHR Consortium","year":"2000","unstructured":"The ADHR Consortium (2000) Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet 26(3):345\u2013348","journal-title":"Nat Genet"},{"issue":"2","key":"775_CR16","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1007\/s00439-005-0026-8","volume":"118","author":"I Chefetz","year":"2005","unstructured":"Chefetz I, Heller R, Galli-Tsinopoulou A, Richard G, Wollnik B, Indelman M, Koerber F, Topaz O, Bergman R, Sprecher E, Schoenau E (2005) A novel homozygous missense mutation in FGF23 causes familial tumoral calcinosis associated with disseminated visceral calcification. Hum Genet 118(2):261\u2013266","journal-title":"Hum Genet"},{"issue":"5","key":"775_CR17","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1111\/j.1600-0714.1991.tb00423.x","volume":"20","author":"EJ Burkes Jr","year":"1991","unstructured":"Burkes EJ Jr, Lyles KW, Dolan EA, Giammara B, Hanker J (1991) Dental lesions in tumoral calcinosis. J Oral Pathol Med 20(5):222\u2013227","journal-title":"J Oral Pathol Med"},{"issue":"5","key":"775_CR18","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1007\/s10038-006-0377-6","volume":"51","author":"P Specktor","year":"2006","unstructured":"Specktor P, Cooper JG, Indelman M, Sprecher E (2006) Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. J Hum Genet 51(5):487\u2013490","journal-title":"J Hum Genet"},{"issue":"20","key":"775_CR19","doi-asserted-by":"crossref","first-page":"2390","DOI":"10.1002\/ajmg.a.31947","volume":"143A","author":"HJ Garringer","year":"2007","unstructured":"Garringer HJ, Mortazavi SM, Esteghamat F, Malekpour M, Boztepe H, Tanakol R, Davis SI, White KE (2007) Two novel GALNT3 mutations in familial tumoral calcinosis. Am J Med Genet A 143A(20):2390\u20132396","journal-title":"Am J Med Genet A"},{"issue":"6 Pt 2","key":"775_CR20","first-page":"F1021","volume":"257","author":"PI Campbell","year":"1989","unstructured":"Campbell PI, Abraham MI, Kempson SA (1989) Increased cAMP in proximal tubules is acute effect of nicotinamide analogues. Am J Physiol 257(6 Pt 2):F1021\u2013F1026","journal-title":"Am J Physiol"},{"issue":"1","key":"775_CR21","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1172\/JCI107905","volume":"55","author":"N Beck","year":"1975","unstructured":"Beck N, Kim KS, Wolak M, Davis BB (1975) Inhibition of carbonic anhydrase by parathyroid hormone and cyclic AMP in rat renal cortex in vitro. J Clin Invest 55(1):149\u2013156","journal-title":"J Clin Invest"},{"issue":"4 Suppl","key":"775_CR22","doi-asserted-by":"crossref","first-page":"247S","DOI":"10.1016\/S8756-3282(95)80001-8","volume":"16","author":"T Yamaguchi","year":"1995","unstructured":"Yamaguchi T, Sugimoto T, Imai Y, Fukase M, Fujita T, Chihara K (1995) Successful treatment of hyperphosphatemic tumoral calcinosis with long-term acetazolamide. Bone 16(4 Suppl):247S\u2013250S","journal-title":"Bone"},{"issue":"2","key":"775_CR23","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1016\/j.bone.2004.04.002","volume":"35","author":"A Benet-Pages","year":"2004","unstructured":"Benet-Pages A, Lorenz-Depiereux B, Zischka H, White KE, Econs MJ, Strom TM (2004) FGF23 is processed by proprotein convertases but not by PHEX. Bone 35(2):455\u2013462","journal-title":"Bone"}],"container-title":["Osteoporosis International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00198-008-0775-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00198-008-0775-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00198-008-0775-z","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,23]],"date-time":"2019-05-23T15:00:59Z","timestamp":1558623659000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00198-008-0775-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,11,4]]},"references-count":23,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2009,7]]}},"alternative-id":["775"],"URL":"https:\/\/doi.org\/10.1007\/s00198-008-0775-z","relation":{},"ISSN":["0937-941X","1433-2965"],"issn-type":[{"value":"0937-941X","type":"print"},{"value":"1433-2965","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,11,4]]}}}