{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T18:47:49Z","timestamp":1787942869940,"version":"build-2784847793"},"reference-count":49,"publisher":"Bioscientifica","issue":"4","license":[{"start":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T00:00:00Z","timestamp":1781481600000},"content-version":"vor","delay-in-days":75,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,4,1]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>X-linked hypophosphatemia (XLH) is the most common congenital phosphate disorder affecting individuals throughout the lifespan. We investigated the skeletal burden, the cardiovascular involvement, the diagnostic performance and the therapeutic management in a cohort of Italian adults with XLH.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>Cross-sectional study involving 15 Italian tertiary centers.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Retrospective study.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>In total, 170 adults (110 females and 60 males), aged 44.6 \u00b1 14.6 (19\u201383) years, were identified. i) Skeletal deformities were detected in 87.1% of individuals, fractures\/pseudofractures in 44.7%, osteophytosis in 65.4% and enthesopathies in 57.6%. Dental disease affected 72.4% of individuals. The skeletal burden was heavier in males than in females. ii) Hypertension occurred in 14.7% of individuals and was associated with elevated plasma intact FGF23 levels; dyslipidemia, diabetes and cerebrovascular events occurred in very few individuals. iii) FGF23 levels were measured in 30.0% of individuals; they were &amp;gt;30 pg\/mL (nv 23\u201395) in nearly all individuals but overtly elevated in 58.8%. Genetic analysis has been performed in 86.5% of the cohort, and PHEX mutations were identified in 95.2% of the individuals without evidence of genotype\/phenotype correlation. iv) 44.2% of individuals were on conventional therapy, 32.5% were on burosumab, and 23.3% were untreated. Individuals having received diagnosis in the adulthood (n = 14) were neither medically nor surgically treated during their childhood.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The burden of XLH disease in adulthood is determined by skeletal manifestations and dental disease and may be more severe in males. Additionally, cardiometabolic impairment may not be common. The disease burden impacts most of the individuals, beyond those presenting the criteria for burosumab reimbursement.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Significance statement<\/jats:title>\n                    <jats:p>Data from a consistent cohort of adults with XLH highlighted that skeletal and dental disease-related complications significantly affect XLH individuals during adulthood and aging. Skeletal features associated with aging occur earlier in adults with XLH, being more evident when untreated or poorly treated with conventional therapy. The disease burden impacts most of individuals, beyond those presenting the criteria for burosumab reimbursement. The study contributes in increasing awareness toward adult XLH individuals and provides data for implementing the disease management and the health policy planning.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1530\/ec-25-0756","type":"journal-article","created":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T18:08:45Z","timestamp":1775066925000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-10","source":"Crossref","is-referenced-by-count":1,"title":["Clinical features of Italian adult individuals with X-linked hypophosphatemia: a multicenter retrospective study"],"prefix":"10.1530","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-4477-4935","authenticated-orcid":true,"given":"Silvia","family":"Carrara","sequence":"first","affiliation":[{"name":"1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8465-5087","authenticated-orcid":true,"given":"Giampiero I","family":"Baroncelli","sequence":"additional","affiliation":[{"name":"2"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0409-4449","authenticated-orcid":true,"given":"Gaetano Paride","family":"Arcidiacono","sequence":"additional","affiliation":[{"name":"3"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3441-2014","authenticated-orcid":true,"given":"Marco","family":"Barale","sequence":"additional","affiliation":[{"name":"4"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8741-0592","authenticated-orcid":true,"given":"Maria Luisa","family":"Brandi","sequence":"additional","affiliation":[{"name":"5"},{"name":"6"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1634-951X","authenticated-orcid":true,"given":"Valentina","family":"Camozzi","sequence":"additional","affiliation":[{"name":"7"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6622-4267","authenticated-orcid":true,"given":"Elena","family":"Castellano","sequence":"additional","affiliation":[{"name":"8"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2558-9547","authenticated-orcid":true,"given":"Filomena","family":"Cetani","sequence":"additional","affiliation":[{"name":"9"},{"name":"10"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5209-9733","authenticated-orcid":true,"given":"Pasquale","family":"Comberiati","sequence":"additional","affiliation":[{"name":"2"},{"name":"10"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Della Valentina","sequence":"additional","affiliation":[{"name":"10"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6805-5804","authenticated-orcid":true,"given":"Cristina","family":"Eller-Vainicher","sequence":"additional","affiliation":[{"name":"11"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9536-9254","authenticated-orcid":true,"given":"Nadia","family":"Edvige Foligno","sequence":"additional","affiliation":[{"name":"12"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0796-9749","authenticated-orcid":true,"given":"Sandro","family":"Giannini","sequence":"additional","affiliation":[{"name":"3"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4857-2468","authenticated-orcid":true,"given":"Laura","family":"Gianotti","sequence":"additional","affiliation":[{"name":"13"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7236-0713","authenticated-orcid":true,"given":"Giorgia","family":"Grassi","sequence":"additional","affiliation":[{"name":"11"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Lagan\u00e0","sequence":"additional","affiliation":[{"name":"14"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7199-2954","authenticated-orcid":true,"given":"Silvia","family":"Lai","sequence":"additional","affiliation":[{"name":"15"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0579-0542","authenticated-orcid":true,"given":"Gemma","family":"Marcucci","sequence":"additional","affiliation":[{"name":"16"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6467-4165","authenticated-orcid":true,"given":"Laura","family":"Masi","sequence":"additional","affiliation":[{"name":"17"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-5842-1324","authenticated-orcid":true,"given":"Francesca","family":"Paglia","sequence":"additional","affiliation":[{"name":"18"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1143-4926","authenticated-orcid":true,"given":"Andrea","family":"Palermo","sequence":"additional","affiliation":[{"name":"19"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0423-4256","authenticated-orcid":true,"given":"Adolfo Marco","family":"Perrotta","sequence":"additional","affiliation":[{"name":"15"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3899-0391","authenticated-orcid":true,"given":"Francesca","family":"Pigliaru","sequence":"additional","affiliation":[{"name":"20"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-0751-3798","authenticated-orcid":true,"given":"Massimo","family":"Procopio","sequence":"additional","affiliation":[{"name":"21"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8169-0696","authenticated-orcid":true,"given":"Vincenzo","family":"Rochira","sequence":"additional","affiliation":[{"name":"18"},{"name":"22"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4553-1756","authenticated-orcid":true,"given":"Silverio","family":"Rotondi","sequence":"additional","affiliation":[{"name":"15"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8899-684X","authenticated-orcid":true,"given":"Rosaria Maddalena","family":"Ruggeri","sequence":"additional","affiliation":[{"name":"14"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-1426-1452","authenticated-orcid":true,"given":"Marco Onofrio","family":"Torres","sequence":"additional","affiliation":[{"name":"3"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Vai","sequence":"additional","affiliation":[{"name":"23"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4481-5693","authenticated-orcid":true,"given":"Giuseppe","family":"Vezzoli","sequence":"additional","affiliation":[{"name":"12"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Zampogna","sequence":"additional","affiliation":[{"name":"1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8140-3175","authenticated-orcid":true,"given":"Sabrina","family":"Corbetta","sequence":"additional","affiliation":[{"name":"23"},{"name":"24"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","published-online":{"date-parts":[[2026,4,1]]},"reference":[{"key":"2026070714063539000_bib1","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1007\/s10545-018-0147-6","article-title":"Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations","volume":"41","author":"Chesher","year":"2018","journal-title":"J Inherit Metab Dis"},{"key":"2026070714063539000_bib2","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2021.688309","article-title":"X-Linked hypophosphatemic rickets: multisystemic disorder in children requiring multidisciplinary management","volume":"12","author":"Baroncelli","year":"2021","journal-title":"Front Endocrinol"},{"key":"2026070714063539000_bib3","doi-asserted-by":"crossref","first-page":"1321","DOI":"10.1210\/js.2018-00365","article-title":"The lifelong impact of X-Linked hypophosphatemia: results from a burden of disease survey","volume":"3","author":"Skrinar","year":"2019","journal-title":"J Endocr Soc"},{"key":"2026070714063539000_bib4","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1186\/s13023-019-1014-8","article-title":"FGF23 and its role in X-linked hypophosphatemia-related morbidity","volume":"14","author":"Beck-Nielsen","year":"2019","journal-title":"Orphanet J Rare Dis"},{"key":"2026070714063539000_bib5","doi-asserted-by":"crossref","first-page":"1485","DOI":"10.1007\/s00198-022-06318-w","article-title":"Physical function and physical activity in adults with X-linked hypophosphatemia","volume":"33","author":"Orlando","year":"2022","journal-title":"Osteoporos Int"},{"key":"2026070714063539000_bib6","doi-asserted-by":"crossref","first-page":"2415","DOI":"10.3390\/genes13122415","article-title":"Impact of X-Linked hypophosphatemia on muscle symptoms","volume":"13","author":"Romagnoli","year":"2022","journal-title":"Genes"},{"key":"2026070714063539000_bib7","doi-asserted-by":"crossref","first-page":"1857","DOI":"10.1007\/s40618-025-02596-3","article-title":"Predictors of response to burosumab in adults with X-linked hypophosphatemia: real-world data from an Italian cohort","volume":"48","author":"Arcidiacono","year":"2025","journal-title":"J Endocrinol Investig"},{"key":"2026070714063539000_bib8","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1038\/s41581-024-00926-x","article-title":"Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia","volume":"21","author":"Haffner","year":"2025","journal-title":"Nat Rev Nephrol"},{"key":"2026070714063539000_bib9","doi-asserted-by":"crossref","first-page":"2353","DOI":"10.1210\/clinem\/dgaf170","article-title":"X-Linked hypophosphatemia management in adults: an international working group clinical practice guideline","volume":"110","author":"Khan","year":"2025","journal-title":"J Clin Endocrinol Metab"},{"key":"2026070714063539000_bib10","doi-asserted-by":"crossref","first-page":"2055","DOI":"10.1210\/clinem\/dgaf093","article-title":"X-Linked hypophosphatemia management in children: an international working group clinical practice guideline","volume":"110","author":"Ali","year":"2025","journal-title":"J Clin Endocrinol Metab"},{"key":"2026070714063539000_bib11","doi-asserted-by":"crossref","first-page":"2199","DOI":"10.1007\/s40618-025-02611-7","article-title":"Experts\u2019 consensus on the management and treatment of individuals with X-linked hypophosphatemia across lifespan","volume":"48","author":"Baroncelli","year":"2025","journal-title":"J Endocrinol Investig"},{"key":"2026070714063539000_bib12","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1007\/s00223-017-0307-y","article-title":"Evaluation of a new fully automated assay for plasma intact FGF23","volume":"101","author":"Souberbielle","year":"2017","journal-title":"Calcif Tissue Int"},{"key":"2026070714063539000_bib13","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"2026070714063539000_bib14","first-page":"3615","article-title":"Mutational analysis of PHEX gene in X-linked hypophosphatemia","volume":"83","author":"Dixon","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"key":"2026070714063539000_bib15","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1186\/s13023-023-02882-4","article-title":"The international X-Linked hypophosphatemia (XLH) registry: first interim analysis of baseline demographic, genetic and clinical data","volume":"18","author":"Ariceta","year":"2023","journal-title":"Orphanet J Rare Dis"},{"key":"2026070714063539000_bib16","doi-asserted-by":"crossref","first-page":"e1249","DOI":"10.1210\/clinem\/dgab739","article-title":"Musculoskeletal features in adults with X-linked hypophosphatemia: an analysis of clinical trial and survey data","volume":"107","author":"Javaid","year":"2022","journal-title":"J Clin Endocrinol Metab"},{"key":"2026070714063539000_bib17","first-page":"1993","article-title":"X-Linked hypophosphatemia","volume-title":"GeneReviews\u00ae [Internet]","author":"Laurent","year":"2012"},{"key":"2026070714063539000_bib18","first-page":"4075","article-title":"X-linked hypophosphatemia: a search for gender, race, anticipation, or parent of origin effects on disease expression in children","volume":"81","author":"Whyte","year":"1996","journal-title":"J Clin Endocrinol Metab"},{"key":"2026070714063539000_bib19","doi-asserted-by":"crossref","first-page":"1493","DOI":"10.1093\/jbmr\/zjae127","article-title":"Nephrocalcinosis and kidney function in children and adults with X-linked hypophosphatemia: baseline results from a large longitudinal study","volume":"39","author":"Portale","year":"2024","journal-title":"J Bone Miner Res"},{"key":"2026070714063539000_bib20","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1007\/s00223-023-01172-2","article-title":"Disease manifestations and complications in Dutch X-Linked hypophosphatemia patients","volume":"114","author":"Bosman","year":"2024","journal-title":"Calcif Tissue Int"},{"key":"2026070714063539000_bib21","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1007\/s00467-002-1044-6","article-title":"Hypertension in hypophosphatemic rickets \u2013 role of secondary hyperparathyroidism","volume":"18","author":"Alon","year":"2003","journal-title":"Pediatr Nephrol"},{"key":"2026070714063539000_bib22","doi-asserted-by":"crossref","first-page":"2450","DOI":"10.1210\/jcem.82.8.4181","article-title":"Cardiovascular abnormalities in patients with X-linked hypophosphatemia","volume":"82","author":"Nehgme","year":"1997","journal-title":"J Clin Endocrinol Metab"},{"key":"2026070714063539000_bib23","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1007\/s00467-018-4180-3","article-title":"Risk of cardiovascular involvement in pediatric patients with X-linked hypophosphatemia","volume":"34","author":"Hern\u00e1ndez-Fr\u00edas","year":"2019","journal-title":"Pediatr Nephrol"},{"key":"2026070714063539000_bib24","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1507\/endocrj.EJ16-0199","article-title":"Hypertension is a characteristic complication of X-linked hypophosphatemia","volume":"64","author":"Nakamura","year":"2017","journal-title":"Endocr J"},{"key":"2026070714063539000_bib25","article-title":"Management of X-linked hypophosphatemia in adults","volume":"103S","author":"Lecoq","year":"2020","journal-title":"Metabolism"},{"key":"2026070714063539000_bib26","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1002\/jbmr.5650050508","article-title":"Normal left ventricular performance in children with X-linked hypophosphatemic rickets: a Doppler echocardiography study","volume":"5","author":"Vered","year":"1990","journal-title":"J Bone Miner Res"},{"key":"2026070714063539000_bib27","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1080\/07435800.2016.1242604","article-title":"Patients with FGF23-related hypophosphatemic rickets\/osteomalacia do not present with left ventricular hypertrophy","volume":"42","author":"Takashi","year":"2017","journal-title":"Endocr Res"},{"key":"2026070714063539000_bib28","doi-asserted-by":"crossref","first-page":"e488","DOI":"10.1210\/clinem\/dgad608","article-title":"Reassuring data on the cardiovascular risk in adults with X-linked hypophosphatemia receiving conventional therapy","volume":"109","author":"Bouzemane","year":"2024","journal-title":"J Clin Endocrinol Metab"},{"key":"2026070714063539000_bib29","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1007\/s00467-022-05636-9","article-title":"X-linked hypophosphatemia, obesity and arterial hypertension: data from the XLH21 study","volume":"38","author":"Bloudeau","year":"2023","journal-title":"Pediatr Nephrol"},{"key":"2026070714063539000_bib30","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1161\/ATVBAHA.110.214619","article-title":"Circulating fibroblast growth factor-23 is associated with fat mass and dyslipidemia in two independent cohorts of elderly individuals","volume":"31","author":"Mirza","year":"2011","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"2026070714063539000_bib31","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1111\/j.1365-2265.2009.03558.x","article-title":"Correlation between plasma calcium, parathyroid hormone (PTH) and the metabolic syndrome (MetS) in a community-based cohort of men and women","volume":"71","author":"Ahlstr\u00f6m","year":"2009","journal-title":"Clin Endocrinol"},{"key":"2026070714063539000_bib32","doi-asserted-by":"crossref","first-page":"1259","DOI":"10.1056\/NEJM198011273032203","article-title":"Hypophosphatemia and glucose intolerance: evidence for tissue insensitivity to insulin","volume":"303","author":"DeFronzo","year":"1980","journal-title":"N Engl J Med"},{"key":"2026070714063539000_bib33","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1055\/s-2007-978884","article-title":"Effects of hypophosphatemia on glucose tolerance and insulin secretion","volume":"30","author":"Paula","year":"1998","journal-title":"Horm Metab Res"},{"key":"2026070714063539000_bib34","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1038\/sj.ejcn.1602375","article-title":"Association of serum phosphate levels with glucose tolerance, insulin sensitivity and insulin secretion in non-diabetic subjects","volume":"60","author":"Haap","year":"2006","journal-title":"Eur J Clin Nutr"},{"key":"2026070714063539000_bib35","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1093\/ajcn\/79.5.820","article-title":"Hypovitaminosis D is associated with insulin resistance and beta cell dysfunction","volume":"79","author":"Chiu","year":"2004","journal-title":"Am J Clin Nutr"},{"key":"2026070714063539000_bib36","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1210\/jc.2013-3577","article-title":"Blood vitamin D status and metabolic syndrome in the general adult population: a dose-response meta-analysis","volume":"99","author":"Ju","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"key":"2026070714063539000_bib37","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1530\/EC-19-0481","article-title":"Increased prevalence of overweight and obesity in children with X-linked hypophosphatemia","volume":"9","author":"Zhukouskaya","year":"2020","journal-title":"Endocr Connections"},{"key":"2026070714063539000_bib38","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1093\/ejendo\/lvae089","article-title":"Metabolically healthy obesity in adults with X-linked hypophosphatemia","volume":"191","author":"Lecoq","year":"2024","journal-title":"Eur J Endocrinol"},{"key":"2026070714063539000_bib39","doi-asserted-by":"crossref","first-page":"1878","DOI":"10.1016\/S0140-6736(23)00457-9","article-title":"Incidence, prevalence, and co-occurrence of autoimmune disorders over time and by age, sex, and socioeconomic status: a population-based cohort study of 22 million individuals in the UK","volume":"401","author":"Conrad","year":"2023","journal-title":"Lancet"},{"key":"2026070714063539000_bib40","doi-asserted-by":"crossref","DOI":"10.1172\/JCI178722","article-title":"Estimation of prevalence of autoimmune diseases in the United States using electronic health record data","volume":"135","author":"Abend","year":"2025","journal-title":"J Clin Investig"},{"key":"2026070714063539000_bib41","doi-asserted-by":"crossref","first-page":"51184","DOI":"10.18632\/oncotarget.9966","article-title":"Impact of autoimmune diseases on outcome of patients with early breast cancer","volume":"7","author":"Criscitiello","year":"2016","journal-title":"Oncotarget"},{"key":"2026070714063539000_bib42","doi-asserted-by":"crossref","first-page":"2174","DOI":"10.1002\/jbmr.4702","article-title":"Determination of FGF23 levels for the diagnosis of FGF23-mediated hypophosphatemia","volume":"37","author":"Hartley","year":"2022","journal-title":"J Bone Miner Res"},{"key":"2026070714063539000_bib43","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1002\/humu.24296","article-title":"Novel PHEX gene locus-specific database: comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH)","volume":"43","author":"Sarafrazi","year":"2022","journal-title":"Hum Mutat"},{"key":"2026070714063539000_bib44","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1038\/sj.ejhg.5200341","article-title":"Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues","volume":"7","author":"Filisetti","year":"1999","journal-title":"Eur J Hum Genet"},{"key":"2026070714063539000_bib45","doi-asserted-by":"crossref","first-page":"3889","DOI":"10.1210\/jcem.86.8.7761","article-title":"Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets","volume":"86","author":"Holm","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"2026070714063539000_bib46","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1186\/1471-2350-12-116","article-title":"Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type","volume":"12","author":"Morey","year":"2011","journal-title":"BMC Med Genet"},{"key":"2026070714063539000_bib47","doi-asserted-by":"crossref","first-page":"981","DOI":"10.3346\/jkms.2007.22.6.981","article-title":"PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets","volume":"22","author":"Song","year":"2007","journal-title":"J Kor Med Sci"},{"key":"2026070714063539000_bib48","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/j.bone.2019.01.021","article-title":"Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia","volume":"121","author":"Zhang","year":"2019","journal-title":"Bone"},{"key":"2026070714063539000_bib49","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2023.1215952","article-title":"A genetic study of a Brazilian cohort of patients with X-linked hypophosphatemia reveals no correlation between genotype and phenotype","volume":"11","author":"Borghi","year":"2023","journal-title":"Front Pediatr"}],"container-title":["Endocrine Connections"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/ec.bioscientifica.com\/view\/journals\/ec\/15\/4\/EC-25-0756.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/ec.bioscientifica.com\/downloadpdf\/journals\/ec\/15\/4\/EC-25-0756.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/journals.bioscientifica.com\/ec\/article-pdf\/doi\/10.1530\/EC-25-0756\/504585\/ec-25-0756.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/journals.bioscientifica.com\/ec\/article-pdf\/doi\/10.1530\/EC-25-0756\/504585\/ec-25-0756.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T18:06:46Z","timestamp":1783447606000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.bioscientifica.com\/ec\/article\/15\/4\/e250756\/75841\/Clinical-features-of-Italian-adult-individuals"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,1]]},"references-count":49,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2026,4,1]]}},"URL":"https:\/\/doi.org\/10.1530\/ec-25-0756","relation":{},"ISSN":["2049-3614"],"issn-type":[{"value":"2049-3614","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,1]]},"article-number":"e250756"}}