{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,25]],"date-time":"2026-10-25T00:19:04Z","timestamp":1792887544078,"version":"4.5.0"},"reference-count":62,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,5,31]],"date-time":"2024-05-31T00:00:00Z","timestamp":1717113600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,5,31]],"date-time":"2024-05-31T00:00:00Z","timestamp":1717113600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100004329","name":"Javna Agencija za Raziskovalno Dejavnost RS","doi-asserted-by":"publisher","award":["P3-0374, 2022"],"award-info":[{"award-number":["P3-0374, 2022"]}],"id":[{"id":"10.13039\/501100004329","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004329","name":"Javna Agencija za Raziskovalno Dejavnost RS","doi-asserted-by":"publisher","award":["P3-0374, 2022"],"award-info":[{"award-number":["P3-0374, 2022"]}],"id":[{"id":"10.13039\/501100004329","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004329","name":"Javna Agencija za Raziskovalno Dejavnost RS","doi-asserted-by":"publisher","award":["P3-0374, 2022"],"award-info":[{"award-number":["P3-0374, 2022"]}],"id":[{"id":"10.13039\/501100004329","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BDJ Open"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Oral health is impaired in X-linked hypophosphatemia (XLH), resulting in delayed dental development, malocclusion, and radiographic abnormalities. This study investigates the oral manifestations in Slovenian XLH patients, focusing on enamel and dentin abnormalities and a literature review of spontaneous periapical abscesses in XLH cases.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Objectives<\/jats:title>\n                <jats:p>To report XLH patients with specific oral signs and symptoms, histological analysis of affected teeth, and review of reported cases of XLH patients with spontaneous periapical abscesses.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p><jats:italic>Case reports<\/jats:italic>: Seven XLH patients from the National Registry of Patients with Rare Diseases underwent a detailed oral examination, including X-ray reviews. The patients who were expected to have tooth exfoliation or extraction were asked to donate their teeth for histological analysis by scanning electron microscopy. <jats:italic>Literature search<\/jats:italic>: A literature search of four electronic databases and a manual bibliography search aimed to identify documented cases of XLH with periapical abscesses up to January 21, 2024. Inclusion criteria were confirmed XLH patients with periapical abscesses in English peer-reviewed publications.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Tooth samples from three XLH patients showed reduced dentin mineralisation, affecting one-third to one-half of the outer dentin. Inadequate mineralisation, uneven dentin tubules, and cracks and chipping in the enamel were observed, indicating mineralisation deviations. Similar cracks extended into the dentin and were also present in the root of the examined tooth. Based on the content of the 75 items identified in the search, spontaneous abscesses are not uncommon in patients with XLH.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>XLH significantly affects patients\u2019 lives and requires lifelong treatment. Dental examinations consistently revealed oral problems, including malocclusion. Histological analysis confirmed structural changes, especially in the dentin. Despite continued treatment, XLH patients may have an increased risk of oral pathologies. Further research is needed to understand the impact of XLH and its treatment on dental health.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1038\/s41405-024-00223-6","type":"journal-article","created":{"date-parts":[[2024,5,31]],"date-time":"2024-05-31T10:05:06Z","timestamp":1717149906000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Characteristics of oral health of patients with X-linked hypophosphatemia: case reports and literature review"],"prefix":"10.1038","volume":"10","author":[{"given":"Ana","family":"Arhar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alenka","family":"Pavli\u010d","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-5005-0710","authenticated-orcid":false,"given":"Luka","family":"Ho\u010devar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,5,31]]},"reference":[{"key":"223_CR1","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1038\/s41581-019-0152-5","volume":"15","author":"D Haffner","year":"2019","unstructured":"Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, et al. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia. Nat Rev Nephrol. 2019;15:435\u201355.","journal-title":"Nat Rev Nephrol"},{"key":"223_CR2","doi-asserted-by":"publisher","first-page":"184","DOI":"10.1177\/0022034517728497","volume":"97","author":"BR Coyac","year":"2018","unstructured":"Coyac BR, Hoac B, Chafey P, Falgayrac G, Slimani L, Rowe PS, et al. Defective mineralization in X-linked hypophosphatemia dental pulp cell cultures. J Dent Res. 2018;97:184\u201391.","journal-title":"J Dent Res"},{"key":"223_CR3","doi-asserted-by":"publisher","first-page":"647","DOI":"10.1530\/EJE-09-0261","volume":"161","author":"T Saito","year":"2009","unstructured":"Saito T, Nishii Y, Yasuda T, Ito N, Suzuki H, Igarashi T, et al. Familial hypophosphatemic rickets caused by a large deletion in PHEX gene. Eur J Endocrinol. 2009;161:647\u201351.","journal-title":"Eur J Endocrinol"},{"key":"223_CR4","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1014-8","volume":"14","author":"SS Beck-Nielsen","year":"2019","unstructured":"Beck-Nielsen SS, Mughal Z, Haffner D, Nilsson O, Levtchenko E, Ariceta G, et al. FGF23 and its role in X-linked hypophosphatemia-related morbidity. Orphanet J Rare Dis. 2019;14:58.","journal-title":"Orphanet J Rare Dis"},{"key":"223_CR5","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01434-4","volume":"15","author":"R Padidela","year":"2020","unstructured":"Padidela R, Nilsson O, Makitie O, Beck-Nielsen S, Ariceta G, Schnabel D, et al. The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study. Orphanet J Rare Dis. 2020;15:172.","journal-title":"Orphanet J Rare Dis"},{"key":"223_CR6","doi-asserted-by":"publisher","first-page":"733","DOI":"10.1148\/radiology.195.3.7754003","volume":"195","author":"KS Caldemeyer","year":"1995","unstructured":"Caldemeyer KS, Boaz JC, Wappner RS, Moran CC, Smith RR, Quets JP. Chiari I malformation: association with hypophosphatemic rickets and MR imaging appearance. Radiology. 1995;195:733\u20138.","journal-title":"Radiology"},{"key":"223_CR7","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1111\/j.1651-2227.1984.tb09917.x","volume":"73","author":"NL Carlsen","year":"1984","unstructured":"Carlsen NL, Krasilnikoff PA, Eiken M. Premature cranial synostosis in X-linked hypophosphatemic rickets: possible precipitation by 1-alpha-OH-cholecalciferol intoxication. Acta Paediatr Scand. 1984;73:149\u201354.","journal-title":"Acta Paediatr Scand"},{"key":"223_CR8","doi-asserted-by":"publisher","DOI":"10.1016\/j.metabol.2019.03.009","volume":"103S","author":"A Rothenbuhler","year":"2020","unstructured":"Rothenbuhler A, Schnabel D, H\u00f6gler W, Linglart A. Diagnosis, treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH). Metabolism. 2020;103S:153892.","journal-title":"Metabolism"},{"key":"223_CR9","doi-asserted-by":"publisher","first-page":"694","DOI":"10.3171\/2015.10.PEDS15273","volume":"17","author":"RA Vega","year":"2016","unstructured":"Vega RA, Opalak C, Harshbarger RJ, Fearon JA, Ritter AM, Collins JJ, et al. Hypophosphatemic rickets and craniosynostosis: a multicenter case series. J Neurosurg Pediatr. 2016;17:694\u2013700.","journal-title":"J Neurosurg Pediatr"},{"key":"223_CR10","doi-asserted-by":"publisher","first-page":"456","DOI":"10.1002\/sca.21141","volume":"36","author":"I Cremonesi","year":"2014","unstructured":"Cremonesi I, Nucci C, D\u2019Alessandro G, Alkhamis N, Marchionni S, Piana G. X-linked hypophosphatemic rickets: enamel abnormalities and oral clinical findings. Scanning. 2014;36:456\u201361.","journal-title":"Scanning"},{"key":"223_CR11","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1530\/EJE-15-0661","volume":"174","author":"H Che","year":"2016","unstructured":"Che H, Roux C, Etcheto A, Rothenbuhler A, Kamenicky P, Linglart A, et al. Impaired quality of life in adults with X-linked hypophosphatemia and skeletal symptoms. Eur J Endocrinol. 2016;174:325\u201333.","journal-title":"Eur J Endocrinol"},{"key":"223_CR12","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1007\/BF03262779","volume":"12","author":"SH Al-Jundi","year":"2011","unstructured":"Al-Jundi SH, Hammad MM, Dabous I. Case report: hypophosphatemic rickets and aggressive periodontitis: a review of the role of dentine matrix protein 1 in the pathogenesis. Eur Arch Paediatr Dent. 2011;12:46\u201350.","journal-title":"Eur Arch Paediatr Dent"},{"key":"223_CR13","first-page":"346","volume":"17","author":"WK Seow","year":"1995","unstructured":"Seow WK, Needleman HL, Holm IA. Effect of familial hypophosphatemic rickets on dental development: a controlled, longitudinal study. Pediatr Dent. 1995;17:346\u201350.","journal-title":"Pediatr Dent"},{"key":"223_CR14","doi-asserted-by":"publisher","first-page":"1023","DOI":"10.1590\/S1807-59322010001000017","volume":"65","author":"MA Souza","year":"2010","unstructured":"Souza MA, Soares Junior LA, Santos MA, Vaisbich MH. Dental abnormalities and oral health in patients with Hypophosphatemic rickets. Clin (Sao Paulo). 2010;65:1023\u20136.","journal-title":"Clin (Sao Paulo)"},{"key":"223_CR15","doi-asserted-by":"publisher","first-page":"648","DOI":"10.1016\/j.ortho.2020.06.003","volume":"18","author":"MA Makrygiannakis","year":"2020","unstructured":"Makrygiannakis MA, Dastoori M, Athanasiou AE. Orthodontic treatment of a nine-year-old patient with hypophosphatemic rickets diagnosed since the age of two: A case report. Int Orthod. 2020;18:648\u201356.","journal-title":"Int Orthod"},{"key":"223_CR16","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1007\/s00774-020-01136-8","volume":"39","author":"GI Baroncelli","year":"2021","unstructured":"Baroncelli GI, Zampollo E, Manca M, Toschi B, Bertelloni S, Michelucci A, et al. Pulp chamber features, prevalence of abscesses, disease severity, and PHEX mutation in X-linked hypophosphatemic rickets. J Bone Min Metab. 2021;39:212\u201323.","journal-title":"J Bone Min Metab"},{"key":"223_CR17","first-page":"69","volume":"72","author":"P Batra","year":"2006","unstructured":"Batra P, Tejani Z, Mars M. X-linked hypophosphatemia: dental and histologic findings. J Can Dent Assoc. 2006;72:69\u201372.","journal-title":"J Can Dent Assoc"},{"key":"223_CR18","first-page":"245","volume":"8","author":"WK Seow","year":"1986","unstructured":"Seow WK, Latham SC. The spectrum of dental manifestations in vitamin D-resistant rickets: implications for management. Pediatr Dent. 1986;8:245\u201350.","journal-title":"Pediatr Dent"},{"key":"223_CR19","first-page":"19","volume":"35","author":"GJ Vasilakis","year":"1980","unstructured":"Vasilakis GJ, Nygaard VK, DiPalma DM. Vitamin D resistant rickets. A review and case report of an adolescent boy with a history of dental problems. J Oral Med. 1980;35:19\u201326.","journal-title":"J Oral Med"},{"key":"223_CR20","first-page":"61","volume":"7","author":"GI Baroncelli","year":"2006","unstructured":"Baroncelli GI, Angiolini M, Ninni E, Galli V, Saggese R, Giuca MR. Prevalence and pathogenesis of dental and periodontal lesions in children with X-linked hypophosphatemic rickets. Eur J Paediatr Dent. 2006;7:61\u20136.","journal-title":"Eur J Paediatr Dent"},{"key":"223_CR21","doi-asserted-by":"publisher","first-page":"324","DOI":"10.1067\/mpd.2003.119","volume":"142","author":"C Chaussain-Miller","year":"2003","unstructured":"Chaussain-Miller C, Sinding C, Wolikow M, Lasfargues JJ, Godeau G, Garab\u00e9dian M. Dental abnormalities in patients with familial hypophosphatemic vitamin D-resistant rickets: prevention by early treatment with 1-hydroxyvitamin D. J Pediatr. 2003;142:324\u201331.","journal-title":"J Pediatr"},{"key":"223_CR22","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1067\/moe.2000.107522","volume":"90","author":"T Murayama","year":"2000","unstructured":"Murayama T, Iwatsubo R, Akiyama S, Amano A, Morisaki I. Familial hypophosphatemic vitamin D-resistant rickets: dental findings and histologic study of teeth. Oral Surg Oral Med Oral Pathol Oral Radio Endod. 2000;90:310\u20136.","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radio Endod"},{"key":"223_CR23","doi-asserted-by":"publisher","first-page":"745","DOI":"10.1007\/s00784-017-2149-4","volume":"22","author":"H Gj\u00f8rup","year":"2018","unstructured":"Gj\u00f8rup H, Beck-Nielsen SS, Haubek D. Craniofacial and dental characteristics of patients with vitamin-D-dependent rickets type 1A compared to controls and patients with X-linked hypophosphatemia. Clin Oral Investig. 2018;22:745\u201355.","journal-title":"Clin Oral Investig"},{"key":"223_CR24","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1016\/j.joen.2011.10.025","volume":"38","author":"C Beltes","year":"2012","unstructured":"Beltes C, Zachou E. Endodontic management in a patient with vitamin D-resistant Rickets. J Endod. 2012;38:255\u20138.","journal-title":"J Endod"},{"key":"223_CR25","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1007\/s00223-006-0182-4","volume":"79","author":"T Boukpessi","year":"2006","unstructured":"Boukpessi T, Septier D, Bagga S, Garab\u00e9dian M, Goldberg M, Chaussain-Miller C. Dentin alteration of deciduous teeth in human hypophosphatemic rickets. Calcif Tissue Int. 2006;79:294\u2013300.","journal-title":"Calcif Tissue Int"},{"key":"223_CR26","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1016\/j.tripleo.2008.12.003","volume":"107","author":"D Douyere","year":"2009","unstructured":"Douyere D, Joseph C, Gaucher C, Chaussain C, Courson F. Familial hypophosphatemic vitamin D-resistant rickets-prevention of spontaneous dental abscesses on primary teeth: a case report. Oral Surg Oral Med Oral Pathol Oral Radio Endod. 2009;107:525\u201330.","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radio Endod"},{"key":"223_CR27","doi-asserted-by":"publisher","first-page":"989","DOI":"10.1016\/j.bone.2012.01.010","volume":"50","author":"S Opsahl Vital","year":"2012","unstructured":"Opsahl Vital S, Gaucher C, Bardet C, Rowe PS, George A, Linglart A, et al. Tooth dentin defects reflect genetic disorders affecting bone mineralization. Bone. 2012;50:989\u201397.","journal-title":"Bone"},{"key":"223_CR28","doi-asserted-by":"publisher","first-page":"388","DOI":"10.1177\/0022034516677528","volume":"96","author":"M Biosse Duplan","year":"2017","unstructured":"Biosse Duplan M, Coyac BR, Bardet C, Zadikian C, Rothenbuhler A, Kamenicky P, et al. Phosphate and Vitamin D Prevent Periodontitis in X-Linked Hypophosphatemia. J Dent Res. 2017;96:388\u201395.","journal-title":"J Dent Res"},{"key":"223_CR29","doi-asserted-by":"publisher","first-page":"1348","DOI":"10.1902\/jop.2009.090129","volume":"80","author":"H Fong","year":"2009","unstructured":"Fong H, Chu EY, Tompkins KA, Foster BL, Sitara D, Lanske B, et al. Aberrant cementum phenotype associated with the hypophosphatemic hyp mouse. J Periodontol. 2009;80:1348\u201354.","journal-title":"J Periodontol"},{"key":"223_CR30","doi-asserted-by":"publisher","first-page":"624","DOI":"10.1177\/154405910808700708","volume":"87","author":"L Ye","year":"2008","unstructured":"Ye L, Zhang S, Ke H, Bonewald LF, Feng JQ. Periodontal breakdown in the Dmp1 null mouse model of hypophosphatemic rickets. J Dent Res. 2008;87:624\u20139.","journal-title":"J Dent Res"},{"key":"223_CR31","doi-asserted-by":"publisher","first-page":"482","DOI":"10.1111\/j.1601-0825.2006.01326.x","volume":"13","author":"C Chaussain-Miller","year":"2007","unstructured":"Chaussain-Miller C, Sinding C, Septier D, Wolikow M, Goldberg M, Garab\u00e9dian M. Dentin structure in familial hypophosphatemic rickets: benefits of vitamin D and phosphate treatment. Oral Dis. 2007;13:482\u20139.","journal-title":"Oral Dis"},{"key":"223_CR32","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1177\/0022034520901719","volume":"99","author":"H Zhang","year":"2020","unstructured":"Zhang H, Chavez MB, Kolli TN, Tan MH, Fong H, Chu EY, et al. Dentoalveolar defects in the hyp mouse model of X-linked hypophosphatemia. J Dent Res. 2020;99:419\u201328.","journal-title":"J Dent Res"},{"key":"223_CR33","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1016\/S0021-9290(97)00131-0","volume":"31","author":"RZ Wang","year":"1998","unstructured":"Wang RZ, Weiner S. Strain-structure relations in human teeth using Moire fringes. J Biomech. 1998;31:135\u201341.","journal-title":"J Biomech"},{"key":"223_CR34","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1016\/0030-4220(81)90061-X","volume":"51","author":"G Nikiforuk","year":"1981","unstructured":"Nikiforuk G, Fraser D, Poyton HG, McKendry JB. Calcific bridging of dental pulp caused by iatrogenic hypercalcemia. Report of a case. Oral Surg Oral Med Oral Pathol. 1981;51:317\u20139.","journal-title":"Oral Surg Oral Med Oral Pathol"},{"key":"223_CR35","doi-asserted-by":"publisher","DOI":"10.3389\/froh.2023.1087761","volume":"4","author":"A Larsson","year":"2023","unstructured":"Larsson A, Regnstrand T, Skott P, M\u00e4kitie O, Bj\u00f6rnsdottir S, Garming-Legert K. Dental health of patients with X-linked hypophosphatemia: a controlled study. Front Oral Health. 2023;4:1087761.","journal-title":"Front Oral Health"},{"key":"223_CR36","doi-asserted-by":"publisher","first-page":"74","DOI":"10.57582\/IJBF.210102.074","volume":"1","author":"MB Duplan","year":"2021","unstructured":"Duplan MB, Norcy EL, Courson F, Chaussain C. Dental and periodontal features and management in XLH children and adults. Int J Bone Frag. 2021;1:74\u20139.","journal-title":"Int J Bone Frag"},{"key":"223_CR37","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1038\/ng1095-130","volume":"11","author":"F Francis","year":"1995","unstructured":"Francis F, Henning S, Korn R, Reinhardt R, de Jong P, Poustka A, et al. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium. Nat Genet. 1995;11:130\u20136.","journal-title":"Nat Genet"},{"key":"223_CR38","doi-asserted-by":"publisher","first-page":"264","DOI":"10.1177\/154411130401500503","volume":"15","author":"PS Rowe","year":"2004","unstructured":"Rowe PS. The wrickkened pathways of FGF23, MEPE and PHEX. Crit Rev Oral Biol Med. 2004;15:264\u201381.","journal-title":"Crit Rev Oral Biol Med"},{"key":"223_CR39","doi-asserted-by":"publisher","first-page":"695","DOI":"10.1359\/jbmr.090832","volume":"25","author":"WN Addison","year":"2010","unstructured":"Addison WN, Masica DL, Gray JJ, McKee MD. Phosphorylation-dependent inhibition of mineralization by osteopontin ASARM peptides is regulated by PHEX cleavage. J Bone Min Res. 2010;25:695\u2013705.","journal-title":"J Bone Min Res"},{"key":"223_CR40","doi-asserted-by":"publisher","first-page":"688","DOI":"10.1002\/jbmr.1766","volume":"28","author":"NM Barros","year":"2013","unstructured":"Barros NM, Hoac B, Neves RL, Addison WN, Assis DM, Murshed M, et al. Proteolytic processing of osteopontin by PHEX and accumulation of osteopontin fragments in Hyp mouse bone, the murine model of X-linked hypophosphatemia. J Bone Min Res. 2013;28:688\u201399.","journal-title":"J Bone Min Res"},{"key":"223_CR41","doi-asserted-by":"publisher","first-page":"79","DOI":"10.3109\/03008207.2014.923864","volume":"55","author":"B Salmon","year":"2014","unstructured":"Salmon B, Bardet C, Coyac BR, Baroukh B, Naji J, Rowe PS, et al. Abnormal osteopontin and matrix extracellular phosphoglycoprotein localization, and odontoblast differentiation, in X-linked hypophosphatemic teeth. Connect Tissue Res. 2014;55:79\u201382.","journal-title":"Connect Tissue Res"},{"key":"223_CR42","doi-asserted-by":"publisher","first-page":"e1000154","DOI":"10.1371\/journal.pgen.1000154","volume":"4","author":"D Sitara","year":"2008","unstructured":"Sitara D, Kim S, Razzaque MS, Bergwitz C, Taguchi T, Schuler C, et al. Genetic evidence of serum phosphate-independent functions of FGF-23 on bone. PLoS Genet. 2008;4:e1000154.","journal-title":"PLoS Genet"},{"key":"223_CR43","doi-asserted-by":"publisher","first-page":"939","DOI":"10.1359\/jbmr.080220","volume":"23","author":"H Wang","year":"2008","unstructured":"Wang H, Yoshiko Y, Yamamoto R, Minamizaki T, Kozai K, Tanne K, et al. Overexpression of fibroblast growth factor 23 suppresses osteoblast differentiation and matrix mineralization in vitro. J Bone Min Res. 2008;23:939\u201348.","journal-title":"J Bone Min Res"},{"key":"223_CR44","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1016\/j.cytogfr.2005.01.002","volume":"16","author":"X Yu","year":"2005","unstructured":"Yu X, White KE. FGF23 and disorders of phosphate homeostasis. Cytokine Growth Factor Rev. 2005;16:221\u201332.","journal-title":"Cytokine Growth Factor Rev"},{"key":"223_CR45","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1111\/j.1440-1681.2011.05526.x","volume":"38","author":"L Chen","year":"2011","unstructured":"Chen L, Liu H, Sun W, Bai X, Karaplis AC, Goltzman D, et al. Fibroblast growth factor 23 overexpression impacts negatively on dentin mineralization and dentinogenesis in mice. Clin Exp Pharm Physiol. 2011;38:395\u2013402.","journal-title":"Clin Exp Pharm Physiol"},{"key":"223_CR46","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsb.2020.107597","volume":"212","author":"MB Chavez","year":"2020","unstructured":"Chavez MB, Kramer K, Chu EY, Thumbigere-Math V, Foster BL. Insights into dental mineralization from three heritable mineralization disorders. J Struct Biol. 2020;212:107597.","journal-title":"J Struct Biol"},{"key":"223_CR47","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1038\/s41405-023-00129-9","volume":"9","author":"X Jin","year":"2023","unstructured":"Jin X, Xu Y, Liu W, Shi Z, Sun Y, Pan X, et al. Dental manifestations and treatment of hypophosphatemic rickets: A case report and review of literature. BDJ Open. 2023;9:2.","journal-title":"BDJ Open"},{"key":"223_CR48","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1016\/j.jdsr.2022.06.002","volume":"58","author":"R Okawa","year":"2022","unstructured":"Okawa R, Nakano K. Dental manifestation and management of hypophosphatasia. Jpn Dent Sci Rev. 2022;58:208\u201316.","journal-title":"Jpn Dent Sci Rev"},{"key":"223_CR49","doi-asserted-by":"publisher","first-page":"1","DOI":"10.5005\/jp-journals-10005-1046","volume":"3","author":"AJ Sh","year":"2010","unstructured":"Sh AJ, Am H. Dental Development in Patients with Hypophosphatemia Rickets. Int J Clin Pediatr Dent. 2010;3:1\u20134.","journal-title":"Int J Clin Pediatr Dent"},{"key":"223_CR50","first-page":"531","volume":"22","author":"A Rabbani","year":"2012","unstructured":"Rabbani A, Rahmani P, Ziaee V, Ghodoosi S. Dental problems in hypophosphatemic rickets, a cross sectional study. Iran J Pediatr. 2012;22:531\u20134.","journal-title":"Iran J Pediatr"},{"key":"223_CR51","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s00774-011-0340-2","volume":"30","author":"TO Carpenter","year":"2012","unstructured":"Carpenter TO. The expanding family of hypophosphatemic syndromes. J Bone Min Metab. 2012;30:1\u20139.","journal-title":"J Bone Min Metab"},{"key":"223_CR52","doi-asserted-by":"publisher","first-page":"R13","DOI":"10.1530\/EC-13-0103","volume":"3","author":"A Linglart","year":"2014","unstructured":"Linglart A, Biosse-Duplan M, Briot K, Chaussain C, Esterle L, Guillaume-Czitrom S, et al. Therapeutic management of hypophosphatemic rickets from infancy to adulthood. Endocr Connect. 2014;3:R13\u201330.","journal-title":"Endocr Connect"},{"key":"223_CR53","doi-asserted-by":"publisher","first-page":"3625","DOI":"10.1210\/JC.2015-2199","volume":"100","author":"J Connor","year":"2015","unstructured":"Connor J, Olear EA, Insogna KL, Katz L, Baker S, Kaur R, et al. Conventional therapy in adults with X-linked hypophosphatemia: effects on enthesopathy and dental disease. J Clin Endocrinol Metab. 2015;100:3625\u201332.","journal-title":"J Clin Endocrinol Metab"},{"key":"223_CR54","doi-asserted-by":"publisher","first-page":"2416","DOI":"10.1016\/S0140-6736(19)30654-3","volume":"393","author":"EA 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;393:2416\u201327.","journal-title":"Lancet"},{"key":"223_CR55","doi-asserted-by":"publisher","first-page":"1381","DOI":"10.1002\/jbmr.3544","volume":"33","author":"M Collins","year":"2018","unstructured":"Collins M. Burosumab: at long last, an effective treatment for FGF23-associated hypophosphatemia. J Bone Min Res. 2018;33:1381\u20132.","journal-title":"J Bone Min Res"},{"key":"223_CR56","doi-asserted-by":"publisher","first-page":"1987","DOI":"10.1056\/NEJMoa1714641","volume":"378","author":"TO 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;378:1987\u201398.","journal-title":"N Engl J Med"},{"key":"223_CR57","doi-asserted-by":"publisher","first-page":"2990","DOI":"10.1210\/clinem\/dgad230","volume":"108","author":"EA Imel","year":"2023","unstructured":"Imel EA, Glorieux FH, Whyte MP, Portale AA, Munns CF, Nilsson O, et al. Burosumab vs phosphate\/active vitamin D in pediatric x-linked hypophosphatemia: a subgroup analysis by dose level. J Clin Endocrinol Metab. 2023;108:2990\u20138.","journal-title":"J Clin Endocrinol Metab"},{"key":"223_CR58","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2022.947814","volume":"13","author":"R Brener","year":"2022","unstructured":"Brener R, Zeitlin L, Lebenthal Y, Brener A. Dental health of pediatric patients with X-linked hypophosphatemia (XLH) after three years of burosumab therapy. Front Endocrinol (Lausanne). 2022;13:947814.","journal-title":"Front Endocrinol (Lausanne)"},{"key":"223_CR59","doi-asserted-by":"publisher","first-page":"338","DOI":"10.3389\/fendo.2020.00338","volume":"11","author":"A 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)"},{"key":"223_CR60","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1007\/s11914-021-00669-9","volume":"19","author":"EA Imel","year":"2021","unstructured":"Imel EA. Burosumab for Pediatric X-Linked Hypophosphatemia. Curr Osteoporos Rep. 2021;19:271\u20137.","journal-title":"Curr Osteoporos Rep."},{"key":"223_CR61","volume":"6","author":"M Gadion","year":"2022","unstructured":"Gadion M, Herv\u00e9 A, Herrou J, Rothenbuhler A, Smail-Faugeron V, Courson F, et al. Burosumab and dental abscesses in children with X-linked hypophosphatemia. JBMR. 2022;6:e10672.","journal-title":"JBMR"},{"key":"223_CR62","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1016\/j.bone.2016.11.019","volume":"95","author":"T Boukpessi","year":"2017","unstructured":"Boukpessi T, Hoac B, Coyac BR, Leger T, Garcia C, Wicart P, et al. Osteopontin and the dento-osseous pathobiology of X-linked hypophosphatemia. Bone. 2017;95:151\u201361.","journal-title":"Bone"}],"container-title":["BDJ Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41405-024-00223-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41405-024-00223-6","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41405-024-00223-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,31]],"date-time":"2024-05-31T11:13:39Z","timestamp":1717154019000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41405-024-00223-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,31]]},"references-count":62,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["223"],"URL":"https:\/\/doi.org\/10.1038\/s41405-024-00223-6","relation":{},"ISSN":["2056-807X"],"issn-type":[{"value":"2056-807X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5,31]]},"assertion":[{"value":"5 February 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 April 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 April 2024","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 May 2024","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Written consent to publish has been obtained for all cases. The study was conducted in full compliance with the Declaration of Helsinki, and the research protocol was approved by the Medical Ethics Committee of the Republic of Slovenia (Act No. 0120-546\/2023\/3).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics"}}],"article-number":"42"}}