{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T14:15:37Z","timestamp":1791900937276,"version":"4.3.4"},"reference-count":36,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2005,3,1]],"date-time":"2005-03-01T00:00:00Z","timestamp":1109635200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Bone"],"published-print":{"date-parts":[[2005,3]]},"DOI":"10.1016\/j.bone.2004.12.004","type":"journal-article","created":{"date-parts":[[2005,3,24]],"date-time":"2005-03-24T08:30:03Z","timestamp":1111653003000},"page":"542-548","source":"Crossref","is-referenced-by-count":33,"title":["An intermediate form of juvenile Paget's disease caused by a truncating TNFRSF11B mutation"],"prefix":"10.1016","volume":"36","author":[{"given":"K.","family":"Janssens","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.-C.","family":"de Vernejoul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"de Freitas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Vanhoenacker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Van Hul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bone.2004.12.004_bib1","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.2106\/00004623-196850060-00002","article-title":"Congenital hyperphosphatasia. A clinical, pathological, and biochemical study of two cases","volume":"50","author":"Eyring","year":"1968","journal-title":"J. Bone Joint Surg. Am."},{"key":"10.1016\/j.bone.2004.12.004_bib2","first-page":"642","article-title":"Chronic idiopathic hyperphosphatasia. Report of a case treated with pamidronate and a review of the literature","volume":"19","author":"Spindler","year":"1992","journal-title":"J. Rheumatol."},{"key":"10.1016\/j.bone.2004.12.004_bib3","doi-asserted-by":"crossref","first-page":"1090","DOI":"10.2106\/00004623-199274070-00018","article-title":"Multifocal osteogenic sarcoma of the skull in a patient who had congenital hyperphosphatasemic skeletal dysplasia. A case report","volume":"74","author":"Nerlich","year":"1992","journal-title":"J. Bone Joint Surg. Am."},{"key":"10.1016\/j.bone.2004.12.004_bib4","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1007\/s002470050708","article-title":"Calcitonin treatment in osteoectasia with hyperphosphatasia (juvenile Paget's disease): radiographic changes after treatment","volume":"29","author":"T\u00fcys\u00fcz","year":"1999","journal-title":"Pediatr. Radiol."},{"key":"10.1016\/j.bone.2004.12.004_bib5","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1016\/S0022-3476(56)80143-1","article-title":"Fragile bones and macrocranium","volume":"49","author":"Bakwin","year":"1956","journal-title":"J. Pediatr."},{"key":"10.1016\/j.bone.2004.12.004_bib6","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1055\/s-2002-36729","article-title":"Idiopathic hyperphosphatasia","volume":"6","author":"Cundy","year":"2002","journal-title":"Semin. Musculoskelet. Radiol."},{"key":"10.1016\/j.bone.2004.12.004_bib7","first-page":"81","article-title":"Familial hyperphosphatasemia with ateliosis and hypermetabolism of growing membranous bone; review of the clinical, radiographic and chemical features","volume":"33","author":"Caffey","year":"1972","journal-title":"Bull. Hosp. Joint Dis."},{"key":"10.1016\/j.bone.2004.12.004_bib8","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/0049-0172(94)90035-3","article-title":"Paget's disease of bone: classical pathology and electron microscopy","volume":"23","author":"Singer","year":"1994","journal-title":"Semin. Arthritis Rheum."},{"key":"10.1016\/j.bone.2004.12.004_bib9","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1002\/jbmr.5650110118","article-title":"Juvenile Paget disease: life-long features of a mildly affected young woman","volume":"11","author":"Golob","year":"1996","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2004.12.004_bib10","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/S0720-048X(99)00128-X","article-title":"Hyperphosphatasemia: report of three cases","volume":"35","author":"Bonakdarpour","year":"2000","journal-title":"Eur. J. Radiol."},{"key":"10.1016\/j.bone.2004.12.004_bib11","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1259\/0007-1285-47-553-9","article-title":"Healing of the bones in juvenile Paget's disease treated by human calcitonin","volume":"47","author":"Doyle","year":"1974","journal-title":"Br. J. Radiol."},{"key":"10.1016\/j.bone.2004.12.004_bib12","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1148\/129.3.669","article-title":"Chronic familial hyperphosphatasemia","volume":"129","author":"Iancu","year":"1978","journal-title":"Radiology"},{"key":"10.1016\/j.bone.2004.12.004_bib13","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/S0092-8674(00)80209-3","article-title":"Osteoprotegerin: a novel secreted protein involved in the regulation of bone density","volume":"89","author":"Simonet","year":"1997","journal-title":"Cell"},{"key":"10.1016\/j.bone.2004.12.004_bib14","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1006\/bbrc.1998.9788","article-title":"Rank is the essential signaling receptor for osteoclast differentiation factor in osteoclastogenesis","volume":"253","author":"Nakagawa","year":"1998","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.bone.2004.12.004_bib15","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1006\/bbrc.1999.0252","article-title":"A new member of tumor necrosis factor ligand family, odf\/opgl\/trance\/rankl, regulates osteoclast differentiation and function","volume":"256","author":"Takahashi","year":"1999","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.bone.2004.12.004_bib16","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/S0092-8674(00)81569-X","article-title":"Osteoprotegerin ligand is a cytokine that regulates osteoclast differentiation and activation","volume":"93","author":"Lacey","year":"1998","journal-title":"Cell"},{"key":"10.1016\/j.bone.2004.12.004_bib17","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1038\/71667","article-title":"Mutations in tnfrsf11a, affecting the signal peptide of rank, cause familial expansile osteolysis","volume":"24","author":"Hughes","year":"2000","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bone.2004.12.004_bib18","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1359\/jbmr.2002.17.1.26","article-title":"Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in tnfrsf11a encoding rank and is allelic to familial expansile osteolysis","volume":"17","author":"Whyte","year":"2002","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2004.12.004_bib19","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1056\/NEJMoa013096","article-title":"Osteoprotegerin deficiency and juvenile Paget's disease","volume":"347","author":"Whyte","year":"2002","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.bone.2004.12.004_bib20","doi-asserted-by":"crossref","first-page":"2119","DOI":"10.1093\/hmg\/11.18.2119","article-title":"A mutation in the gene tnfrsf11b encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype","volume":"11","author":"Cundy","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bone.2004.12.004_bib21","doi-asserted-by":"crossref","first-page":"2095","DOI":"10.1359\/jbmr.2003.18.12.2095","article-title":"Idiopathic hyperphosphatasia and tnfrsf11b mutations: relationships between phenotype and genotype","volume":"18","author":"Chong","year":"2003","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2004.12.004_bib22","doi-asserted-by":"crossref","first-page":"5117","DOI":"10.1074\/jbc.273.9.5117","article-title":"Characterization of structural domains of human osteoclastogenesis inhibitory factor","volume":"273","author":"Yamaguchi","year":"1998","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bone.2004.12.004_bib23","doi-asserted-by":"crossref","first-page":"20551","DOI":"10.1074\/jbc.273.32.20551","article-title":"Characterization of the intracellular domain of receptor activator of nf-kappab (rank). Interaction with tumor necrosis factor receptor-associated factors and activation of nf-kappab and c-jun n-terminal kinase","volume":"273","author":"Darnay","year":"1998","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bone.2004.12.004_bib24","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1016\/S0006-291X(03)00695-8","article-title":"Signal transduction by receptor activator of nuclear factor kappa b in osteoclasts","volume":"305","author":"Lee","year":"2003","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.bone.2004.12.004_bib25","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1006\/bbrc.1998.8443","article-title":"Characterization of monomeric and homodimeric forms of osteoclastogenesis inhibitory factor","volume":"245","author":"Tomoyasu","year":"1998","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.bone.2004.12.004_bib26","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1016\/0092-8674(91)90512-W","article-title":"Cell surface, heparin-like molecules are required for binding of basic fibroblast growth factor to its high affinity receptor","volume":"64","author":"Yayon","year":"1991","journal-title":"Cell"},{"key":"10.1016\/j.bone.2004.12.004_bib27","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/0169-6009(92)90924-3","article-title":"Familial idiopathic hyperphosphatasia (fih): response to long-term treatment with pamidronate (apd)","volume":"19","author":"Cassinelli","year":"1992","journal-title":"Bone Miner."},{"key":"10.1016\/j.bone.2004.12.004_bib28","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1515\/JPEM.2000.13.2.217","article-title":"Effect of alendronate treatment on the clinical picture and bone turnover markers in chronic idiopathic hyperphosphatasia","volume":"13","author":"Demir","year":"2000","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"10.1016\/j.bone.2004.12.004_bib29","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1016\/j.bone.2004.03.013","article-title":"Chronic idiopathic hyperphosphatasia: normalization of bone turnover with cyclical intravenous pamidronate therapy","volume":"35","author":"Tau","year":"2004","journal-title":"Bone"},{"key":"10.1016\/j.bone.2004.12.004_bib30","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1359\/jbmr.040127","article-title":"Treatment of idiopathic hyperphosphatasia with intensive bisphosphonate therapy","volume":"19","author":"Cundy","year":"2004","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2004.12.004_bib31","doi-asserted-by":"crossref","first-page":"29","DOI":"10.2214\/ajr.129.1.29","article-title":"Calcitonin treatment in hereditary bone dysplasia with hyperphosphatasemia: a radiographic and histologic study of bone","volume":"129","author":"Whalen","year":"1977","journal-title":"AJR Am. J. Roentgenol."},{"key":"10.1016\/j.bone.2004.12.004_bib32","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1302\/0301-620X.59B4.562883","article-title":"Familial idiopathic hyperphosphatasia: a study of two young siblings treated with porcine calcitonin","volume":"59-B","author":"Blanco","year":"1977","journal-title":"J. Bone Joint Surg., Br."},{"key":"10.1016\/j.bone.2004.12.004_bib33","doi-asserted-by":"crossref","first-page":"2643","DOI":"10.2174\/1381612033453640","article-title":"New insights into the molecular mechanisms of action of bisphosphonates","volume":"9","author":"Rogers","year":"2003","journal-title":"Curr. Pharm. Des."},{"key":"10.1016\/j.bone.2004.12.004_bib34","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1016\/S8756-3282(02)00688-9","article-title":"Forty years of calcitonin\u2014where are we now? A tribute to the work of Iain Macintyre, frs","volume":"30","author":"Zaidi","year":"2002","journal-title":"Bone"},{"key":"10.1016\/j.bone.2004.12.004_bib35","doi-asserted-by":"crossref","first-page":"2385","DOI":"10.1093\/hmg\/11.20.2385","article-title":"Molecular genetics of too much bone","volume":"11","author":"Janssens","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bone.2004.12.004_bib36","first-page":"1","article-title":"An electron microscopic investigation of human familial bone dysplasia. Inhibition of osteocytic osteolysis and induction of osteocytic formation of elastic fibers following calcitonin treatment","volume":"94","author":"Nunez","year":"1979","journal-title":"Am. J. Pathol."}],"container-title":["Bone"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328204004740?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328204004740?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,2,5]],"date-time":"2019-02-05T20:59:20Z","timestamp":1549400360000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S8756328204004740"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,3]]},"references-count":36,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,3]]}},"alternative-id":["S8756328204004740"],"URL":"https:\/\/doi.org\/10.1016\/j.bone.2004.12.004","relation":{},"ISSN":["8756-3282"],"issn-type":[{"value":"8756-3282","type":"print"}],"subject":[],"published":{"date-parts":[[2005,3]]}}}