{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T06:14:27Z","timestamp":1782886467613,"version":"3.54.5"},"reference-count":32,"publisher":"Archives of Endocrinology and Metabolism","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,11,16]]},"DOI":"10.20945\/2359-3997000000555","type":"journal-article","created":{"date-parts":[[2022,11,17]],"date-time":"2022-11-17T12:13:47Z","timestamp":1668687227000},"page":"658-665","source":"Crossref","is-referenced-by-count":8,"title":["New treatments for rare bone diseases: hypophosphatemic rickets\/osteomalacia"],"prefix":"10.20945","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5610-9564","authenticated-orcid":false,"given":"Julia Vieira Oberger","family":"Marques","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9908-4907","authenticated-orcid":false,"given":"Carolina Aguiar","family":"Moreira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0555-0880","authenticated-orcid":false,"given":"Victoria Zeghbi Cochenski","family":"Borba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"8510","reference":[{"key":"key20221117071319_B1","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1002\/9781119266594.ch25","volume-title":"Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism","author":"White","year":"2018","unstructured":"White KE, Econs MJ. FGF23 and the Regulation of Phosphorus Metabolism. In: Bilezikian JP, Bouillon R, Clemens T, Compston J, Bauer DC, Ebeling PR, editors. Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism. Wiley Online Books; 2018. chapter 25, p. 187-93."},{"issue":"11","key":"key20221117071319_B2","doi-asserted-by":"crossref","first-page":"2039","DOI":"10.1007\/s00467-012-2175-z","article-title":"Phosphate homeostasis and its role in bone health","volume":"27","author":"Goretti Penido","year":"2012","unstructured":"Goretti Penido M, Alon US. Phosphate homeostasis and its role in bone health. Pediatr Nephrol. 2012;27(11):2039-48. doi: 10.1007\/s00467-012-2175-z. Erratum in: Pediatr Nephrol. 2017 Jul 6.","journal-title":"Pediatr Nephrol"},{"key":"key20221117071319_B3","doi-asserted-by":"crossref","first-page":"576110","DOI":"10.3389\/fcell.2020.576110","article-title":"Disorders of Calcium and Phosphorus Metabolism and the Proteomics\/Metabolomics-Based Research","volume":"8","author":"Sun","year":"2020","unstructured":"Sun M, Wu X, Yu Y, Wang L, Xie D, Zhang Z, et al. Disorders of Calcium and Phosphorus Metabolism and the Proteomics\/Metabolomics-Based Research. Front Cell Dev Biol. 2020;8:576110.","journal-title":"Front Cell Dev Biol"},{"issue":"4","key":"key20221117071319_B4","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1172\/JCI200419081","article-title":"Targeted ablation of Fgf23 demonstrates an essential physiological role of FGF23 in phosphate and vitamin D metabolism","volume":"113","author":"Shimada","year":"2004","unstructured":"Shimada T, Kakitani M, Yamazaki Y, Hasegawa H, Takeuchi Y, Fujita T, et al. Targeted ablation of Fgf23 demonstrates an essential physiological role of FGF23 in phosphate and vitamin D metabolism. J Clin Invest. 2004;113(4):561-8.","journal-title":"J Clin Invest"},{"key":"key20221117071319_B5","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1002\/9781119266594.ch88","volume-title":"Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism","author":"Ruppe","year":"2018","unstructured":"Ruppe MD, Jan de Beur SM. Disorders of Phosphate Homeostasis. In: Bilezikian JP, Bouillon R, Clemens T, Compston J, Bauer DC, Ebeling PR, editors. Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism. Wiley Online Books; 2018. chapter 88, p. 674-83."},{"issue":"3","key":"key20221117071319_B6","doi-asserted-by":"crossref","first-page":"R53","DOI":"10.1530\/ERC-11-0006","article-title":"Tumor-induced osteomalacia","volume":"18","author":"Chong","year":"2011","unstructured":"Chong WH, Molinolo AA, Chen CC, Collins MT. Tumor-induced osteomalacia. Endocr Relat Cancer. 2011;18(3):R53-77.","journal-title":"Endocr Relat Cancer"},{"key":"key20221117071319_B7","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.bonr.2017.09.002","article-title":"Tumor-induced osteomalacia","volume":"7","author":"Florenzano","year":"2017","unstructured":"Florenzano P, Gafni RI, Collins MT. Tumor-induced osteomalacia. Bone Rep. 2017;7:90-7.","journal-title":"Bone Rep"},{"issue":"1","key":"key20221117071319_B8","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/00000478-200401000-00001","article-title":"Most osteomalacia-associated mesenchymal tumors are a single histopathologic entity: an analysis of 32 cases and a comprehensive review of the literature","volume":"28","author":"Folpe","year":"2004","unstructured":"Folpe AL, Fanburg-Smith JC, Billings SD, Bisceglia M, Bertoni F, Cho JY, et al. Most osteomalacia-associated mesenchymal tumors are a single histopathologic entity: an analysis of 32 cases and a comprehensive review of the literature. Am J Surg Pathol. 2004;28(1):1-30.","journal-title":"Am J Surg Pathol"},{"issue":"3","key":"key20221117071319_B9","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/S8756-3282(00)00334-3","article-title":"Tumor-induced osteomalacia and the regulation of phosphate homeostasis","volume":"27","author":"Kumar","year":"2000","unstructured":"Kumar R. Tumor-induced osteomalacia and the regulation of phosphate homeostasis. Bone. 2000;27(3):333-8.","journal-title":"Bone"},{"key":"key20221117071319_B10","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1007\/978-3-030-03694-2_4","volume-title":"Metabolic Bone Diseases: A Case-Based Approach","author":"Jain","year":"2019","unstructured":"Jain S, Camacho PM. Osteomalacia and Rickets. In: Camacho PM, editor. Metabolic Bone Diseases: A Case-Based Approach. Cham: Springer International Publishing; 2019. p. 43-53."},{"key":"key20221117071319_B11","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1002\/9781119266594.ch89","volume-title":"Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism","author":"Laurent","year":"2018","unstructured":"Laurent MR, Bravenboer N, Van Schoor NM, Bouillon R, Pettifor JM, Lips P. Rickets and Osteomalacia. In: Bilezikian JP, Bouillon R, Clemens T, Compston J, Bauer DC, Ebeling PR, editors. Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism. Wiley Online Books; 2018. chapter 89, p. 684-94."},{"issue":"8","key":"key20221117071319_B12","doi-asserted-by":"crossref","first-page":"e3428","DOI":"10.1210\/clinem\/dgac253","article-title":"Tumor-induced Osteomalacia: A Systematic Review and Individual Patient\u2019s Data Analysis","volume":"107","author":"Rendina","year":"2022","unstructured":"Rendina D, Abate V, Cacace G, D\u2019Elia L, De Filippo G, Del Vecchio S, et al. Tumor-induced Osteomalacia: A Systematic Review and Individual Patient\u2019s Data Analysis. J Clin Endocrinol Metab. 2022;107(8):e3428-36.","journal-title":"J Clin Endocrinol Metab"},{"issue":"17","key":"key20221117071319_B13","doi-asserted-by":"crossref","first-page":"1656","DOI":"10.1056\/NEJMoa020881","article-title":"Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia","volume":"348","author":"Jonsson","year":"2003","unstructured":"Jonsson KB, Zahradnik R, Larsson T, White KE, Sugimoto T, Imanishi Y, et al. Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. N Engl J Med. 2003;348(17):1656-63.","journal-title":"N Engl J Med"},{"issue":"7","key":"key20221117071319_B14","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1002\/jbmr.340","article-title":"A clinician\u2019s guide to X-linked hypophosphatemia","volume":"26","author":"Carpenter","year":"2011","unstructured":"Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL. A clinician\u2019s guide to X-linked hypophosphatemia. J Bone Miner Res. 2011;26(7):1381-8. doi: 10.1002\/jbmr.340. Epub 2011 May 2. Erratum in: J Bone Miner Res. 2015 Feb;30(2):394. PMID: 21538511; PMCID: PMC3157040.","journal-title":"J Bone Miner Res"},{"issue":"21","key":"key20221117071319_B15","doi-asserted-by":"crossref","first-page":"1987","DOI":"10.1056\/NEJMoa1714641","article-title":"Burosumab Therapy in Children with X-Linked Hypophosphatemia","volume":"378","author":"Carpenter","year":"2018","unstructured":"Carpenter TO, Whyte MP, Imel EA, Boot AM, H\u00f6gler W, Linglart A, et al. Burosumab Therapy in Children with X-Linked Hypophosphatemia. N Engl J Med. 2018;378(21):1987-98.","journal-title":"N Engl J Med"},{"issue":"11","key":"key20221117071319_B16","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1007\/s40267-018-0560-9","article-title":"Burosumab in X-linked hypophosphatemia: a profile of its use in the USA","volume":"34","author":"Lyseng-Williamson","year":"2018","unstructured":"Lyseng-Williamson KA. Burosumab in X-linked hypophosphatemia: a profile of its use in the USA. Drugs Ther Perspect. 2018;34(11):497-506.","journal-title":"Drugs Ther Perspect"},{"key":"key20221117071319_B17","doi-asserted-by":"crossref","first-page":"338","DOI":"10.3389\/fendo.2020.00338","article-title":"Clinical Evidence for the Benefits of Burosumab Therapy for X-Linked Hypophosphatemia (XLH) and Other Conditions in Adults and Children","volume":"11","author":"Schindeler","year":"2020","unstructured":"Schindeler A, Biggin A, Munns CF. Clinical Evidence for the Benefits of Burosumab Therapy for X-Linked Hypophosphatemia (XLH) and Other Conditions in Adults and Children. Front Endocrinol (Lausanne). 2020;11:338.","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"11","key":"key20221117071319_B18","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1038\/nrendo.2009.196","article-title":"The FGF23-Klotho axis: endocrine regulation of phosphate homeostasis","volume":"5","author":"Razzaque","year":"2009","unstructured":"Razzaque MS. The FGF23-Klotho axis: endocrine regulation of phosphate homeostasis. Nat Rev Endocrinol. 2009;5(11):611-9.","journal-title":"Nat Rev Endocrinol"},{"issue":"26","key":"key20221117071319_B19","doi-asserted-by":"crossref","first-page":"11085","DOI":"10.1073\/pnas.0704446104","article-title":"Evidence for a signaling axis by which intestinal phosphate rapidly modulates renal phosphate reabsorption","volume":"104","author":"Berndt","year":"2007","unstructured":"Berndt T, Thomas LF, Craig TA, Sommer S, Li X, Bergstralh EJ, et al. Evidence for a signaling axis by which intestinal phosphate rapidly modulates renal phosphate reabsorption. Proc Natl Acad Sci U S A. 2007;104(26):11085-90. doi: 10.1073\/pnas.0704446104. Erratum in: Proc Natl Acad Sci U S A. 2007 Dec 26;104(52):21021.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"key20221117071319_B20","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1146\/annurev.med.051308.111339","article-title":"Regulation of phosphate homeostasis by PTH, vitamin D, and FGF23","volume":"61","author":"Bergwitz","year":"2010","unstructured":"Bergwitz C, J\u00fcppner H. Regulation of phosphate homeostasis by PTH, vitamin D, and FGF23. Annu Rev Med. 2010;61:91-104.","journal-title":"Annu Rev Med"},{"issue":"8","key":"key20221117071319_B21","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1359\/jbmr.060507","article-title":"Regulation of C-terminal and intact FGF-23 by dietary phosphate in men and women","volume":"21","author":"Burnett","year":"2006","unstructured":"Burnett SM, Gunawardene SC, Bringhurst FR, J\u00fcppner H, Lee H, Finkelstein JS. Regulation of C-terminal and intact FGF-23 by dietary phosphate in men and women. J Bone Miner Res. 2006;21(8):1187-96.","journal-title":"J Bone Miner Res"},{"issue":"2","key":"key20221117071319_B22","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1038\/s41581-018-0087-2","article-title":"Renal and extrarenal effects of fibroblast growth factor 23","volume":"15","author":"Vervloet","year":"2019","unstructured":"Vervloet M. Renal and extrarenal effects of fibroblast growth factor 23. Nat Rev Nephrol. 2019;15(2):109-20.","journal-title":"Nat Rev Nephrol"},{"issue":"3","key":"key20221117071319_B23","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1210\/clinem\/dgab729","article-title":"Sustained Efficacy and Safety of Burosumab, a Monoclonal Antibody to FGF23, in Children With X-Linked Hypophosphatemia","volume":"107","author":"Linglart","year":"2022","unstructured":"Linglart A, Imel EA, Whyte MP, Portale AA, H\u00f6gler W, Boot AM, et al. Sustained Efficacy and Safety of Burosumab, a Monoclonal Antibody to FGF23, in Children With X-Linked Hypophosphatemia. J Clin Endocrinol Metab. 2022;107(3):813-24.","journal-title":"J Clin Endocrinol Metab"},{"issue":"10189","key":"key20221117071319_B24","doi-asserted-by":"crossref","first-page":"2416","DOI":"10.1016\/S0140-6736(19)30654-3","article-title":"Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial","volume":"393","author":"Imel","year":"2019","unstructured":"Imel EA, Glorieux FH, Whyte MP, Munns CF, Ward LM, Nilsson O, et al. Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial. Lancet. 2019;393(10189):2416-27. doi: 10.1016\/S0140-6736(19)30654-3. Erratum in: Lancet. 2019 Jul 13;394(10193):120.","journal-title":"Lancet"},{"issue":"3","key":"key20221117071319_B25","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/S2213-8587(18)30338-3","article-title":"Efficacy and safety of burosumab in children aged 1-4 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trial","volume":"7","author":"Whyte","year":"2019","unstructured":"Whyte MP, Carpenter TO, Gottesman GS, Mao M, Skrinar A, San Martin J, et al. Efficacy and safety of burosumab in children aged 1-4 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trial. Lancet Diabetes Endocrinol. 2019;7(3):189-99.","journal-title":"Lancet Diabetes Endocrinol"},{"key":"key20221117071319_B26","volume-title":"Real-world effectiveness of burosumab in children with X-linked hypophosphatemic rickets","author":"Paloian","year":"2022","unstructured":"Paloian NJ, Nemeth B, Sharafinski M, Modaff P, Steiner RD. Real-world effectiveness of burosumab in children with X-linked hypophosphatemic rickets. Pediatr Nephrol. 2022."},{"issue":"8","key":"key20221117071319_B27","doi-asserted-by":"crossref","first-page":"1383","DOI":"10.1002\/jbmr.3475","article-title":"AXLES 1 Investigators. A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial Evaluating the Efficacy of Burosumab, an Anti-FGF23 Antibody, in Adults With X-Linked Hypophosphatemia: Week 24 Primary Analysis","volume":"33","author":"Insogna","year":"2018","unstructured":"Insogna KL, Briot K, Imel EA, Kamenick\u00fd P, Ruppe MD, Portale AA, et al.; AXLES 1 Investigators. A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial Evaluating the Efficacy of Burosumab, an Anti-FGF23 Antibody, in Adults With X-Linked Hypophosphatemia: Week 24 Primary Analysis. J Bone Miner Res. 2018;33(8):1383-93.","journal-title":"J Bone Miner Res"},{"issue":"3","key":"key20221117071319_B28","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1007\/s00223-019-00568-3","article-title":"Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period","volume":"105","author":"Portale","year":"2019","unstructured":"Portale AA, Carpenter TO, Brandi ML, Briot K, Cheong HI, Cohen-Solal M, et al. Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period. Calcif Tissue Int. 2019;105(3):271-84.","journal-title":"Calcif Tissue Int"},{"issue":"3","key":"key20221117071319_B29","doi-asserted-by":"crossref","DOI":"10.1136\/rmdopen-2021-001714","article-title":"Burosumab treatment in adults with X-linked hypophosphataemia: 96-week patient-reported outcomes and ambulatory function from a randomised phase 3 trial and open-label extension","volume":"7","author":"Briot","year":"2021","unstructured":"Briot K, Portale AA, Brandi ML, Carpenter TO, Cheong HI, Cohen-Solal M, et al. Burosumab treatment in adults with X-linked hypophosphataemia: 96-week patient-reported outcomes and ambulatory function from a randomised phase 3 trial and open-label extension. RMD Open. 2021;7(3):e001714.","journal-title":"RMD Open"},{"issue":"12","key":"key20221117071319_B30","doi-asserted-by":"crossref","first-page":"2183","DOI":"10.1002\/jbmr.3843","article-title":"Burosumab Improved Histomorphometric Measures of Osteomalacia in Adults with X-Linked Hypophosphatemia: A Phase 3, Single-Arm, International Trial","volume":"34","author":"Insogna","year":"2019","unstructured":"Insogna KL, Rauch F, Kamenick\u00fd P, Ito N, Kubota T, Nakamura A, et al. Burosumab Improved Histomorphometric Measures of Osteomalacia in Adults with X-Linked Hypophosphatemia: A Phase 3, Single-Arm, International Trial. J Bone Miner Res. 2019;34(12):2183-91.","journal-title":"J Bone Miner Res"},{"issue":"12","key":"key20221117071319_B31","doi-asserted-by":"crossref","first-page":"3615","DOI":"10.1007\/s00198-016-3702-8","article-title":"Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment","volume":"27","author":"Ovejero","year":"2016","unstructured":"Ovejero D, Lim YH, Boyce AM, Gafni RI, McCarthy E, Nguyen TA, et al. Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment. Osteoporos Int. 2016;27(12):3615-26.","journal-title":"Osteoporos Int"},{"issue":"4","key":"key20221117071319_B32","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1002\/jbmr.4233","article-title":"Burosumab for the Treatment of Tumor-Induced Osteomalacia","volume":"36","author":"Jan de Beur","year":"2021","unstructured":"Jan de Beur SM, Miller PD, Weber TJ, Peacock M, Insogna K, Kumar R, et al. Burosumab for the Treatment of Tumor-Induced Osteomalacia. J Bone Miner Res. 2021;36(4):627-35.","journal-title":"J Bone Miner Res"}],"container-title":["Archives of Endocrinology and Metabolism"],"original-title":[],"language":"en","deposited":{"date-parts":[[2022,11,17]],"date-time":"2022-11-17T12:14:14Z","timestamp":1668687254000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.aem-sbem.com\/article\/new-treatments-for-rare-bone-diseases-hypophosphatemic-rickets-osteomalacia\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022]]},"references-count":32,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2022,11,16]]}},"alternative-id":["10.20945\/2359-3997000000555"],"URL":"https:\/\/doi.org\/10.20945\/2359-3997000000555","relation":{},"ISSN":["2359-3997","2359-4292"],"issn-type":[{"value":"2359-3997","type":"print"},{"value":"2359-4292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022]]}}}