Research & Literature

Review of the dental implications of X-linked hypophosphataemic rickets (XLHR).

Sabandal MM, Robotta P, Bürklein S, Schäfer E

Clinical oral investigations 2015; (19(4)):759-68 doi:10.1007/s00784-015-1425-4.

Clinical and molecular heterogeneity in a large series of patients with hypophosphatemic rickets.

Capelli S, Donghi V, Maruca K, et al.

Bone 2015; (79()):143-9.

Nationwide survey of fibroblast growth factor 23 (FGF23)-related hypophosphatemic diseases in Japan: prevalence, biochemical data and treatment.

Endo I, Fukumoto S, Ozono K, et al.

Endocrine journal 2015; (62(9)):811-6 doi:10.1507/endocrj.EJ15-0275.

X-linked hypophosphatemic rickets and sagittal craniosynostosis: three patients requiring operative cranial expansion: case series and literature review.

Jaszczuk P, Rogers GF, Guzman R, Proctor MR

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2016; (32(5)):887-91 doi:10.1007/s00381-015-2934-9.

Hypophosphatemic rickets and craniosynostosis: a multicenter case series.

Vega RA, Opalak C, Harshbarger RJ, et al.

Journal of neurosurgery. Pediatrics 2016; (17(6)):694-700 doi:10.3171/2015.10.PEDS15273.

Minimally Invasive Surgical Management of Thoracic Ossification of the Ligamentum Flavum Associated with X-linked Hypophosphatemia.

Riccio AR, Entezami P, Giuffrida A, et al.

World neurosurgery 2016; (94()):580.e5-580.e10 doi:10.1016/j.wneu.2016.07.076.

Osteopontin and the dento-osseous pathobiology of X-linked hypophosphatemia.

Boukpessi T, Hoac B, Coyac BR, et al.

Bone 2017; (95()):151-161 doi:10.1016/j.bone.2016.11.019.

Dental management of patients with X-linked hypophosphatemia.

Lee BN, Jung HY, Chang HS, et al.

Restorative dentistry & endodontics 2017; (42(2)):146-151 doi:10.5395/rde.2017.42.2.146.

Defective Mineralization in X-Linked Hypophosphatemia Dental Pulp Cell Cultures.

Coyac BR, Hoac B, Chafey P, et al.

Journal of dental research 2018; (97(2)):184-191 doi:10.1177/0022034517728497.

Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations.

Chesher D, Oddy M, Darbar U, et al.

Journal of inherited metabolic disease 2018; (41(5)):865-876 doi:10.1007/s10545-018-0147-6.

Genetic analysis of three families with X-linked dominant hypophosphatemic rickets.

Lin X, Zhu Y, Luo J, Huang J

Journal of pediatric endocrinology & metabolism : JPEM 2018; (31(7)):789-797 doi:10.1515/jpem-2017-0451.

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.

Insogna KL, Briot K, Imel EA, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2018; (33(8)):1383-1393 doi:10.1002/jbmr.3475.

Burosumab in X-linked hypophosphatemia: a profile of its use in the USA.

Lyseng-Williamson KA

Drugs & therapy perspectives : for rational drug selection and use 2018; (34(11)):497-506 doi:10.1007/s40267-018-0560-9.

The first Korean case report with scaphocephaly as the initial sign of X-linked hypophosphatemic rickets.

Lee KS, Lee BL

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2019; (35(6)):1045-1049 doi:10.1007/s00381-018-04042-7.

X-linked hypophosphatemia: Management and treatment prospects.

Lambert AS, Zhukouskaya V, Rothenbuhler A, Linglart A

Joint bone spine 2019; (86(6)):731-738 doi:10.1016/j.jbspin.2019.01.012.

Tumor-induced osteomalacia.

Yin Z, Du J, Yu F, Xia W

Osteoporosis and sarcopenia 2018; (4(4)):119-127 doi:10.1016/j.afos.2018.12.001.

FGF23 and its role in X-linked hypophosphatemia-related morbidity.

Beck-Nielsen SS, Mughal Z, Haffner D, et al.

Orphanet journal of rare diseases 2019; (14(1)):58 doi:10.1186/s13023-019-1014-8.

Diagnosis, treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH).

Rothenbuhler A, Schnabel D, Högler W, Linglart A

Metabolism: clinical and experimental 2020; (103S()):153892 doi:10.1016/j.metabol.2019.03.009.

Nephrocalcinosis and Nephrolithiasis in X-Linked Hypophosphatemic Rickets: Diagnostic Imaging and Risk Factors.

Colares Neto GP, Ide Yamauchi F, Hueb Baroni R, et al.

Journal of the Endocrine Society 2019; (3(5)):1053-1061 doi:10.1210/js.2018-00338.

Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial.

Imel EA, Glorieux FH, Whyte MP, et al.

Lancet (London, England) 2019; (393(10189)):2416-2427 doi:10.1016/S0140-6736(19)30654-3.

The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey.

Skrinar A, Dvorak-Ewell M, Evins A, et al.

Journal of the Endocrine Society 2019; (3(7)):1321-1334 doi:10.1210/js.2018-00365.

Hyperparathyroidism and parathyroidectomy in X-linked hypophosphatemia patients.

DeLacey S, Liu Z, Broyles A, et al.

Bone 2019; (127()):386-392 doi:10.1016/j.bone.2019.06.025.

Burosumab Improved Histomorphometric Measures of Osteomalacia in Adults with X-Linked Hypophosphatemia: A Phase 3, Single-Arm, International Trial.

Insogna KL, Rauch F, Kamenický P, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2019; (34(12)):2183-2191 doi:10.1002/jbmr.3843.

Mineralized tissues in hypophosphatemic rickets.

Robinson ME, AlQuorain H, Murshed M, Rauch F

Pediatric nephrology (Berlin, Germany) 2020; (35(10)):1843-1854 doi:10.1007/s00467-019-04290-y.

FGF23 and Associated Disorders of Phosphate Wasting.

Gohil A, Imel EA

Pediatric endocrinology reviews : PER 2019; (17(1)):17-34 doi:10.17458/per.vol17.2019.gi.fgf23anddisordersphosphate.

Exploring the burden of X-linked hypophosphatemia: a European multi-country qualitative study.

Lo SH, Lachmann R, Williams A, et al.

Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation 2020; (29(7)):1883-1893 doi:10.1007/s11136-020-02465-x.

Complications of Phosphate and Vitamin D Treatment in X-Linked Hypophosphataemia.

Arango Sancho P

Advances in therapy 2020; (37(Suppl 2)):105-112 doi:10.1007/s12325-019-01170-7.

Congenital Conditions of Hypophosphatemia Expressed in Adults.

Marcucci G, Brandi ML

Calcified tissue international 2021; (108(1)):91-103 doi:10.1007/s00223-020-00695-2.

An Overview of Rickets in Children.

Chanchlani R, Nemer P, Sinha R, et al.

Kidney international reports 2020; (5(7)):980-990 doi:10.1016/j.ekir.2020.03.025.

Pulp chamber features, prevalence of abscesses, disease severity, and PHEX mutation in X-linked hypophosphatemic rickets.

Baroncelli GI, Zampollo E, Manca M, et al.

Journal of bone and mineral metabolism 2021; (39(2)):212-223 doi:10.1007/s00774-020-01136-8.

Clinical guidelines for burosumab in the treatment of XLH in children and adolescents: British paediatric and adolescent bone group recommendations.

Padidela R, Cheung MS, Saraff V, Dharmaraj P

Endocrine connections 2020; (9(10)):1051-1056.

FGF23-related hypophosphatemic rickets/osteomalacia: diagnosis and new treatment.

Fukumoto S

Journal of molecular endocrinology 2021; (66(2)):R57-R65.

Plasma intact fibroblast growth factor 23 level is a useful tool for diagnostic approach of renal hypophosphatemia.

Giralt M, Chocron S, Ferrer R, Ariceta G

Pediatric nephrology (Berlin, Germany) 2021; (36(4)):1025-1028 doi:10.1007/s00467-020-04906-8.

Diagnosis and management of X-linked hypophosphatemia in children and adolescent in the Gulf Cooperation Council countries.

Al Juraibah F, Al Amiri E, Al Dubayee M, et al.

Archives of osteoporosis 2021; (16(1)):52 doi:10.1007/s11657-021-00879-9.

Switching from conventional therapy to burosumab injection has the potential to prevent nephrocalcinosis in patients with X-linked hypophosphatemic rickets.

Harada D, Ueyama K, Oriyama K, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2021; (34(6)):791-798 doi:10.1515/jpem-2020-0734.

Incidence of Complications in 25 Adult Patients With X-linked Hypophosphatemia.

Kato H, Koga M, Kinoshita Y, et al.

The Journal of clinical endocrinology and metabolism 2021; (106(9)):e3682-e3692 doi:10.1210/clinem/dgab282.

X-linked hypophosphatemia and burosumab: Practical clinical points from the French experience.

Bacchetta J, Rothenbuhler A, Gueorguieva I, et al.

Joint bone spine 2021; (88(5)):105208 doi:10.1016/j.jbspin.2021.105208.

The Metabolic Bone Disease X-linked Hypophosphatemia: Case Presentation, Pathophysiology and Pharmacology.

Vincze J, Skinner BW, Tucker KA, et al.

Life (Basel, Switzerland) 2021; (11(6)) doi:10.3390/life11060563.

Patient-Reported Complications, Symptoms, and Experiences of Living With X-Linked Hypophosphatemia Across the Life-Course.

Cheung M, Rylands AJ, Williams A, et al.

Journal of the Endocrine Society 2021; (5(8)):bvab070 doi:10.1210/jendso/bvab070.

X-Linked Hypophosphatemic Rickets: Multisystemic Disorder in Children Requiring Multidisciplinary Management.

Baroncelli GI, Mora S

Frontiers in endocrinology 2021; (12()):688309 doi:10.3389/fendo.2021.688309.

Adult rheumatologic features, treatment and complications of X-linked hypophosphatemia.

Salcion A, Herrou J, Briot K

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2021; (28(7)):606-611 doi:10.1016/j.arcped.2021.09.004.

Orthopedic and neurosurgical care of X-linked hypophosphatemia.

Rocco FD, Rothenbuhler A, Adamsbaum C, et al.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2021; (28(7)):599-605 doi:10.1016/j.arcped.2021.09.003.

Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.

Rush ET, Johnson B, Aradhya S, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2022; (37(2)):202-214 doi:10.1002/jbmr.4454.

Musculoskeletal Features in Adults With X-linked Hypophosphatemia: An Analysis of Clinical Trial and Survey Data.

Javaid MK, Ward L, Pinedo-Villanueva R, et al.

The Journal of clinical endocrinology and metabolism 2022; (107(3)):e1249-e1262 doi:10.1210/clinem/dgab739.

Sustained Efficacy and Safety of Burosumab, a Monoclonal Antibody to FGF23, in Children With X-Linked Hypophosphatemia.

Linglart A, Imel EA, Whyte MP, et al.

The Journal of clinical endocrinology and metabolism 2022; (107(3)):813-824 doi:10.1210/clinem/dgab729.

Health Care Transition From Pediatric- to Adult-Focused Care in X-linked Hypophosphatemia: Expert Consensus.

Dahir K, Dhaliwal R, Simmons J, et al.

The Journal of clinical endocrinology and metabolism 2022; (107(3)):599-613 doi:10.1210/clinem/dgab796.

Real-world effectiveness of burosumab in children with X-linked hypophosphatemic rickets.

Paloian NJ, Nemeth B, Sharafinski M, et al.

Pediatric nephrology (Berlin, Germany) 2022; (37(11)):2667-2677 doi:10.1007/s00467-022-05484-7.

Safety and Efficacy of Burosumab in Pediatric Patients With X-Linked Hypophosphatemia: A Phase 3/4 Open-Label Trial.

Namba N, Kubota T, Muroya K, et al.

Journal of the Endocrine Society 2022; (6(5)):bvac021 doi:10.1210/jendso/bvac021.

Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia.

Trombetti A, Al-Daghri N, Brandi ML, et al.

Nature reviews. Endocrinology 2022; (18(6)):366-384 doi:10.1038/s41574-022-00662-x.

An Evidence-based Physical Therapy Prescription for Adults With X-linked Hypophosphatemia.

Kanamalla K, Fuchs R, Herzog C, et al.

Journal of the Endocrine Society 2022; (6(8)):bvac094 doi:10.1210/jendso/bvac094.

Health-related quality of life of X-linked hypophosphatemia in Spain.

Yanes MIL, Diaz-Curiel M, Peris P, et al.

Orphanet journal of rare diseases 2022; (17(1)):298 doi:10.1186/s13023-022-02452-0.

Determination of FGF23 Levels for the Diagnosis of FGF23-Mediated Hypophosphatemia.

Hartley IR, Gafni RI, Roszko KL, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2022; (37(11)):2174-2185 doi:10.1002/jbmr.4702.

Phosphatonins: From Discovery to Therapeutics.

Kritmetapak K, Kumar R

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2023; (29(1)):69-79 doi:10.1016/j.eprac.2022.09.007.

Spatial metabolomics reveals upregulation of several pyrophosphate-producing pathways in cortical bone of Hyp mice.

Buck A, Prade VM, Kunzke T, et al.

JCI insight 2022; (7(20)).

Burosumab and Dental Abscesses in Children With X-Linked Hypophosphatemia.

Gadion M, Hervé A, Herrou J, et al.

JBMR plus 2022; (6(11)):e10672 doi:10.1002/jbm4.10672.

Impact of X-Linked Hypophosphatemia on Muscle Symptoms.

Romagnoli C, Iantomasi T, Brandi ML

Genes 2022; (13(12)) doi:10.3390/genes13122415.

Burosumab in management of X-linked hypophosphataemia: a retrospective cohort study of growth and serum phosphate levels.

Walker EYX, Lindsay TAJ, Allgrove J, et al.

Archives of disease in childhood 2023; (108(5)):379-384 doi:10.1136/archdischild-2022-324962.

Burosumab for X-linked hypophosphatemia in children and adolescents: Opinion based on early experience in seven European countries.

Mughal MZ, Baroncelli GI, de Lucas-Collantes C, et al.

Frontiers in endocrinology 2022; (13()):1034580 doi:10.3389/fendo.2022.1034580.

Predicting Rates of Angular Correction After Hemiepiphysiodesis in Patients With X-Linked Hypophosphatemic Rickets.

Grote CW, Nepple JJ, Schoenecker PL, et al.

Journal of pediatric orthopedics 2023; (43(6)):379-385 doi:10.1097/BPO.0000000000002393.

Burosumab vs Phosphate/Active Vitamin D in Pediatric X-Linked Hypophosphatemia: A Subgroup Analysis by Dose Level.

Imel EA, Glorieux FH, Whyte MP, et al.

The Journal of clinical endocrinology and metabolism 2023; (108(11)):2990-2998 doi:10.1210/clinem/dgad230.

Effects of Burosumab Treatment on Mineral Metabolism in Children and Adolescents With X-linked Hypophosphatemia.

Ewert A, Rehberg M, Schlingmann KP, et al.

The Journal of clinical endocrinology and metabolism 2023; (108(10)):e998-e1006 doi:10.1210/clinem/dgad223.

Asia-Pacific Consensus Recommendations on X-Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care.

Munns CF, Yoo HW, Jalaludin MY, et al.

JBMR plus 2023; (7(6)):e10744 doi:10.1002/jbm4.10744.

Fibroblast growth factor 23 levels in cord and peripheral blood during early neonatal period as possible predictors of affected offspring of X-linked hypophosphatemic rickets: report of three female cases from two pedigrees.

Nabeshima Y, Sato T, Zukeran H, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2023; (36(8)):786-790 doi:10.1515/jpem-2023-0120.

Tubular phosphate transport: a comparison between different methods of urine sample collection in FGF23-dependent hypophosphatemic syndromes.

Arcidiacono GP, Camozzi V, Zaninotto M, et al.

Clinical chemistry and laboratory medicine 2024; (62(6)):1126-1132 doi:10.1515/cclm-2023-1292.

X-linked hypophosphatemia: The value of feedback focus groups to assess patient and caregiver needs.

Wagner E, Bertholet-Thomas A, Romier M, et al.

European journal of medical genetics 2024; (68()):104912 doi:10.1016/j.ejmg.2024.104912.

Complex intrinsic abnormalities in osteoblast lineage cells of X-linked hypophosphatemia: Analysis of human iPS cell models generated by CRISPR/Cas9-mediated gene ablation.

Nakanishi T, Yamazaki M, Tachikawa K, et al.

Bone 2024; (181()):117044 doi:10.1016/j.bone.2024.117044.

Safety and efficacy of burosumab in improving phosphate metabolism, bone health, and quality of life in adolescents with X-linked hypophosphatemic rickets.

Baroncelli GI, Grandone A, Aversa A, et al.

European journal of medical genetics 2024; (70()):104958 doi:10.1016/j.ejmg.2024.104958.

Evaluation of dental manifestations in X-linked hypophosphatemia using orthopantomography.

Okawa R, Takagi M, Nakamoto T, et al.

PloS one 2024; (19(7)):e0307896 doi:10.1371/journal.pone.0307896.

Nephrocalcinosis and kidney function in children and adults with X-linked hypophosphatemia: baseline results from a large longitudinal study.

Portale AA, Ward L, Dahir K, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2024; (39(10)):1493-1502 doi:10.1093/jbmr/zjae127.

X-linked hypophosphatemic rickets and nephrocalcinosis: clinical characteristics of a single-center pediatric cohort in North America before and after burosumab.

Paloian NJ, Boyke-Lohmann LR, Steiner RD

Frontiers in pediatrics 2024; (12()):1430921 doi:10.3389/fped.2024.1430921.

X-linked hypophosphataemia.

Kamenický P, Briot K, Munns CF, Linglart A

Lancet (London, England) 2024; (404(10455)):887-901 doi:10.1016/S0140-6736(24)01305-9.

Impact of X-linked hypophosphatemic rickets/osteomalacia on health and quality of life: baseline data from the SUNFLOWER longitudinal, observational cohort study.

Namba N, Ito N, Michigami T, et al.

JBMR plus 2024; (8(11)):ziae118 doi:10.1093/jbmrpl/ziae118.

RNA-first Approach Identifies Deep Intronic PHEX Variants in X-linked Hypophosphatemic Rickets.

Ludwig K, Wu Z, Bardai G, et al.

The Journal of clinical endocrinology and metabolism 2025; (110(8)):2288-2298 doi:10.1210/clinem/dgae785.

The care of the patient with X-linked hypophosphatemic rickets.

Capotosti I, Baroncelli GI, Ligori S, et al.

European journal of paediatric dentistry 2024; (25(4)):329-330 doi:10.23804/ejpd.2024.25.04.02.

Unusual PHEX variants implicate uncommon genetic mechanisms for X-linked hypophosphatemic rickets.

Alzoebie L, Li D, Wang X, et al.

JBMR plus 2025; (9(1)):ziae152 doi:10.1093/jbmrpl/ziae152.

Impact of stopping burosumab treatment at the end of skeletal growth in adolescents with X-linked hypophosphatemia (XLH).

Jarvis C, Ramakrishnan R, Dharmaraj P, et al.

Bone reports 2025; (24()):101819 doi:10.1016/j.bonr.2024.101819.

Clinical and Molecular Genetic Characteristics of Patients with Hereditary Hypophosphatemia.

Eltan M, Alavanda C, Yavas Abali Z, et al.

The Journal of clinical endocrinology and metabolism 2025; (110(9)):e3021-e3030 doi:10.1210/clinem/dgae868.

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.

Haffner D, Emma F, Seefried L, et al.

Nature reviews. Nephrology 2025; (21(5)):330-354 doi:10.1038/s41581-024-00926-x.

Pain, Quality of Life, and Mental Health in Adults with X-linked Hypophosphatemia: A Cross-sectional Study.

Diaz-delCastillo M, Espersen RB, Beck-Nielsen SS, et al.

The Journal of clinical endocrinology and metabolism 2025; (110(11)):e3886-e3896 doi:10.1210/clinem/dgaf104.

X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline.

Khan AA, Ali DS, Appelman-Dijkstra NM, et al.

The Journal of clinical endocrinology and metabolism 2025; (110(8)):2353-2370 doi:10.1210/clinem/dgaf170.

The Burden of Adult X-Linked Hypophosphatemia on Carers and Family Members: A Mixed-Methods Study.

Matter E, Lawrence C, Gardiner O, et al.

Journal of health economics and outcomes research 2025; (12(1)):162-170 doi:10.36469/001c.133860.

The Diagnosis and Therapy of XLH.

Böckmann I, Haffner D

Calcified tissue international 2025; (116(1)):66 doi:10.1007/s00223-025-01374-w.

Pain and physical function affecting quality of life in patients with osteogenesis imperfecta, X-linked hypophosphatemia, and hypermobile Ehlers-Danlos syndrome.

Moon JY, Inhestern L, Landskron N, et al.

JBMR plus 2025; (9(7)):ziaf076 doi:10.1093/jbmrpl/ziaf076.

Experts' consensus on the management and treatment of individuals with X-linked hypophosphatemia across lifespan.

Baroncelli GI, Barale M, Brandi ML, et al.

Journal of endocrinological investigation 2025; (48(10)):2199-2228 doi:10.1007/s40618-025-02611-7.

Prevalence of enthesopathies in X-linked hypophosphatemia: an explorative ultrasound study.

Bachfischer L, Behanova M, Rath E, et al.

JBMR plus 2025; (9(9)):ziaf113 doi:10.1093/jbmrpl/ziaf113.

Lower limb deformity correction in X-linked hypophosphatemia (XLH) with intramedullary nails: A strategy to reduce deformity recurrence and improve limb function.

Toporowski G, Frommer A, Roedl R, et al.

Bone 2025; (200()):117611 doi:10.1016/j.bone.2025.117611.

Effect of burosumab conversion on calciuria and nephrocalcinosis in children with XLH: A real-world cohort study.

Filler G, Chandrakumaran H, Babalola F, et al.

Bone reports 2025; (27()):101877 doi:10.1016/j.bonr.2025.101877.

Case Report: Increased FGF23 and new insufficiency fractures at burosumab discontinuation in X-linked hypophosphatemia.

Bandir R, Zanisi L, Nicod-Lalonde M, Gonzalez-Rodriguez E

Frontiers in endocrinology 2025; (16()):1665649 doi:10.3389/fendo.2025.1665649.

Secondary and Tertiary Hyperparathyroidism among Patients with X-Linked Hypophosphatemia: A Systematic Review and Meta-analysis.

Fisch SA, Zilberman S, Tudor A, et al.

Calcified tissue international 2025; (117(1)):4 doi:10.1007/s00223-025-01468-5.

Burosumab in adults with X-linked hypophosphatemia: real-world experience from a retrospective study in Sydney.

Kumar S, Girgis CM, Tran B, et al.

JBMR plus 2025; (9(Suppl 5)):v39-v46 doi:10.1093/jbmrpl/ziae132.

What is it like living with X-linked hypophosphatemia?: results from an Australian consumer survey.

Sandy JL, Ford N, Bevc S, et al.

JBMR plus 2025; (9(Suppl 5)):v3-v13 doi:10.1093/jbmrpl/ziaf027.

Early Dental Manifestations and Multidisciplinary Management of X-Linked Hypophosphatemic Rickets in a Pediatric Patient: A Case Report.

Mitova N, Petkova-Ninova V, Popova Y

Children (Basel, Switzerland) 2025; (13(1)) doi:10.3390/children13010016.

Postprandial serum phosphorus and calcium concentrations in adults and children with X-linked hypophosphatemia during burosumab treatment.

Portale AA, Jan de Beur SM, Munns CF, et al.

JBMR plus 2026; (10(4)):ziag008 doi:10.1093/jbmrpl/ziag008.

Oral assessment of patients with X-linked hypophosphatemic rickets.

Buzato J, De Castro Santos VL, Botelho Pires de Campos MC, et al.

Journal of the American Dental Association (1939) 2026; doi:10.1016/j.adaj.2026.03.002.

X-linked hypophosphatemia and spinal cord compression: a systematic review and illustrative case.

Czarnetzki C, Mollica C, Buri J, et al.

Acta neurochirurgica 2026; (168(1)).

Hypophosphatemic rickets: diagnosis and treatment.

Bruneau H, Bergwitz C

Archives of endocrinology and metabolism 2026; (70(3)) doi:10.20945/2359-4292-2026-0044.

X-linked Hypophosphatemic Rickets Revealed by Exome Sequencing: A Pediatric Case Report of a PHEX Pathogenic Variant.

Larbi Ouassou K, Amale H, Abilkassem R

Cureus 2026; (18(5)):e109583 doi:10.7759/cureus.109583.

Case Report: Deep intronic PHEX variant causing aberrant splicing identified by whole genome and targeted RNA sequencing in X-linked hypophosphatemia.

Spranger S, Faust H, Duffek P, et al.

Frontiers in endocrinology 2026; (17()):1847219 doi:10.3389/fendo.2026.1847219.