{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:16:28Z","timestamp":1789179388227,"version":"build-2803163510"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2020,3,3]],"date-time":"2020-03-03T00:00:00Z","timestamp":1583193600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,3,3]],"date-time":"2020-03-03T00:00:00Z","timestamp":1583193600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100012021","name":"Iran University of Medical Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012021","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Endocrinol Invest"],"published-print":{"date-parts":[[2020,8]]},"DOI":"10.1007\/s40618-020-01203-x","type":"journal-article","created":{"date-parts":[[2020,3,3]],"date-time":"2020-03-03T16:47:20Z","timestamp":1583254040000},"page":"1125-1130","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene"],"prefix":"10.1007","volume":"43","author":[{"given":"F.","family":"Mahjoubi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Ghadir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Samanian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Heydari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1285-8456","authenticated-orcid":false,"given":"M.","family":"Honardoost","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,3,3]]},"reference":[{"issue":"7","key":"1203_CR1","doi-asserted-by":"publisher","first-page":"1273","DOI":"10.1007\/s00198-008-0775-z","volume":"20","author":"CE Dumitrescu","year":"2009","unstructured":"Dumitrescu CE et al (2009) A case of familial tumoral calcinosis\/hyperostosis\u2013hyperphosphatemia syndrome due to a compound heterozygous variant in GALNT3 demonstrating new phenotypic features. Osteoporos Int 20(7):1273\u20131278","journal-title":"Osteoporos Int"},{"issue":"5","key":"1203_CR2","doi-asserted-by":"publisher","first-page":"735","DOI":"10.1016\/j.berh.2011.10.020","volume":"25","author":"EG Farrow","year":"2011","unstructured":"Farrow EG, Imel EA, White KE (2011) Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and \u03b1Klotho). Pract Res Clin Rheutomatol 25(5):735\u2013747","journal-title":"Pract Res Clin Rheutomatol"},{"key":"1203_CR3","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1016\/j.sbi.2018.12.006","volume":"56","author":"W van Tol","year":"2019","unstructured":"van Tol W, Wessels H, Lefeber DJ (2019) O-glycosylation disorders pave the road for understanding the complex human O-glycosylation machinery. Curr Opin Struct Biol 56:107\u2013118","journal-title":"Curr Opin Struct Biol"},{"issue":"2","key":"1203_CR4","doi-asserted-by":"publisher","first-page":"170","DOI":"10.3109\/03009742.2014.958100","volume":"44","author":"D El Demellawy","year":"2015","unstructured":"El Demellawy D, Chang N, de Nanassy J, Nasr A (2015) GALNT3 gene variant-associated chronic recurrent multifocal osteomyelitis and familial hyperphosphatemic familial tumoral calcinosis. Scand J Rheumatol 44(2):170\u2013172","journal-title":"Scand J Rheumatol"},{"issue":"2","key":"1203_CR5","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1359\/jbmr.061105","volume":"22","author":"Y Frishberg","year":"2007","unstructured":"Frishberg Y et al (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":"9","key":"1203_CR6","doi-asserted-by":"publisher","first-page":"3357","DOI":"10.1210\/jc.2012-1811","volume":"97","author":"ER Smith","year":"2012","unstructured":"Smith ER, Cai MM, McMahon LP, Holt SG (2012) Biological variability of plasma intact and C-terminal FGF23 measurements. J Clin Endocrinol Metabol 97(9):3357\u20133365","journal-title":"J Clin Endocrinol Metabol"},{"issue":"12","key":"1203_CR7","doi-asserted-by":"publisher","first-page":"5368","DOI":"10.1172\/JCI122004","volume":"128","author":"MS Roberts","year":"2018","unstructured":"Roberts MS et al (2018) Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies. J Clin Investig 128(12):5368\u20135373","journal-title":"J Clin Investig"},{"issue":"4","key":"1203_CR8","doi-asserted-by":"publisher","first-page":"896","DOI":"10.1002\/ajmg.a.33337","volume":"152","author":"S Ichikawa","year":"2010","unstructured":"Ichikawa S et al (2010) Clinical variability of familial tumoral calcinosis caused by novel GALNT3 variants. Am J Med Genet Part A 152(4):896\u2013903","journal-title":"Am J Med Genet Part A"},{"issue":"5","key":"1203_CR9","doi-asserted-by":"publisher","first-page":"1943","DOI":"10.1210\/jc.2006-1825","volume":"92","author":"S Ichikawa","year":"2007","unstructured":"Ichikawa S et al (2007) Novel GALNT3 variants causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations. J Clin Endocrinol Metabol 92(5):1943\u20131947","journal-title":"J Clin Endocrinol Metabol"},{"issue":"393","key":"1203_CR10","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1016\/S0140-6736(18)33045-9","volume":"12","author":"V Tiwari","year":"2019","unstructured":"Tiwari V, Nagar M, Santoshi JA (2019) Hyperphosphataemic tumoral calcinosis. Lancet 12(393):168","journal-title":"Lancet"},{"issue":"1","key":"1203_CR11","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1186\/s12863-014-0098-3","volume":"15","author":"S Rafaelsen","year":"2014","unstructured":"Rafaelsen S, Johansson S, R\u00e6der H, Bjerknes R (2014) Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 variant; case report and review of the literature. BMC Genet 15(1):98","journal-title":"BMC Genet"},{"issue":"10","key":"1203_CR12","doi-asserted-by":"publisher","first-page":"1845","DOI":"10.1002\/jbmr.2870","volume":"31","author":"MS Ramnitz","year":"2016","unstructured":"Ramnitz MS et al (2016) Phenotypic and genotypic characterization and treatment of a cohort with familial tumoral calcinosis\/hyperostosis-hyperphosphatemia syndrome. J Bone Miner Res 31(10):1845\u20131854","journal-title":"J Bone Miner Res"},{"issue":"1","key":"1203_CR13","doi-asserted-by":"publisher","first-page":"94","DOI":"10.4274\/jcrpe.galenos.2018.2018.0134","volume":"11","author":"RE K\u0131\u015fla","year":"2019","unstructured":"K\u0131\u015fla RE et al (2019) Hyperphosphatemic familial tumoral calcinosis in two siblings with a novel mutation in GALNT3 gene: experience from Southern Turkey. J Clin Res Pediatr Endocrinol 11(1):94\u201399","journal-title":"J Clin Res Pediatr Endocrinol"},{"issue":"5","key":"1203_CR14","doi-asserted-by":"publisher","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":"3","key":"1203_CR15","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1093\/hmg\/ddi034","volume":"14","author":"A Benet-Pag\u00e8s","year":"2004","unstructured":"Benet-Pag\u00e8s 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"},{"key":"1203_CR16","doi-asserted-by":"publisher","first-page":"16038","DOI":"10.1038\/boneres.2016.38","volume":"4","author":"L Sun","year":"2016","unstructured":"Sun L et al (2016) Identification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis. Bone Res 4:16038","journal-title":"Bone Res"},{"issue":"6","key":"1203_CR17","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1038\/ng1358","volume":"36","author":"O Topaz","year":"2004","unstructured":"Topaz O et al (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":"20","key":"1203_CR18","doi-asserted-by":"publisher","first-page":"2390","DOI":"10.1002\/ajmg.a.31947","volume":"143","author":"HJ Garringer","year":"2007","unstructured":"Garringer HJ et al (2007) Two novel GALNT3 mutations in familial tumoral calcinosis. Am J Med Genet A 143(20):2390\u20132396","journal-title":"Am J Med Genet A"},{"issue":"5","key":"1203_CR19","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1007\/s00774-011-0260-1","volume":"29","author":"A Yancovitch","year":"2011","unstructured":"Yancovitch A et al (2011) Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. J Bone Miner Metab 29(5):621\u2013625","journal-title":"J Bone Miner Metab"}],"container-title":["Journal of Endocrinological Investigation"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s40618-020-01203-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s40618-020-01203-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s40618-020-01203-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,3,3]],"date-time":"2021-03-03T01:03:32Z","timestamp":1614733412000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s40618-020-01203-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,3]]},"references-count":19,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2020,8]]}},"alternative-id":["1203"],"URL":"https:\/\/doi.org\/10.1007\/s40618-020-01203-x","relation":{},"ISSN":["1720-8386"],"issn-type":[{"value":"1720-8386","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3,3]]},"assertion":[{"value":"24 August 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 February 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 March 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare neither conflict competing conflicts, nor industry relationship related to this study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The research was carried out based on the Declaration of Helsinki principles. All the participants were provided written informed consent to participate and to publish data. The study was approved by the Ethics Committee of Iran University of Medical Sciences, Tehran, Iran (IR.IUMS.REC.1397.620).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Written informed consent was obtained for participants. The ethical committee of Ian University of Medical Science, Tehran, Iran, approved the study.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}