Rothenbuhler A, Schnabel D, Högler W, Linglart A (2020) Diagnosis, treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH). Metabolism. https://doi.org/10.1016/j.metabol.2019.03.009
Alizadeh Naderi AS, Reilly RF (2010) Hereditary disorders of renal phosphate wasting. Nat Rev Nephrol 6(11):657–665. https://doi.org/10.1038/nrneph.2010.121
Article CAS PubMed Google Scholar
Marie PJ, Glorieux FH (1983) Relation between hypomineralized periosteocytic lesions and bone mineralization in vitamin D-resistant rickets. Calcif Tissue Int 35(4–5):443–448. https://doi.org/10.1007/BF02405074
Article CAS PubMed Google Scholar
Lecoq AL, Brandi ML, Linglart A, Kamenický P (2020) Management of X-linked hypophosphatemia in adults. Metabolism 103S:154049. https://doi.org/10.1016/j.metabol.2019.154049
Article CAS PubMed Google Scholar
Trombetti A, Al-Daghri N, Brandi ML, Cannata-Andía JB, Cavalier E, Chandran M, Chaussain C, Cipullo L, Cooper C, Haffner D, Harvengt P, Harvey NC, Javaid MK, Jiwa F, Kanis JA, Laslop A, Laurent MR, Linglart A, Marques A, Mindler GT, Minisola S, Yerro MCP, Rosa MM, Seefried L, Vlaskovska M, Zanchetta MB, Rizzoli R (2022) Interdisciplinary management of FGF23-related phosphate wasting syndromes: a consensus statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia. Nat Rev Endocrinol 18(6):366–384. https://doi.org/10.1038/s41574-022-00662-x
Article CAS PubMed Google Scholar
Imel EA, White KE (2019) Pharmacological management of X-linked hypophosphataemia. Br J Clin Pharmacol. 85(6):1188–1198. https://doi.org/10.1111/bcp.13763
Insogna KL, Briot K, Imel EA, Kamenický P, Ruppe MD, Portale AA, Weber T, Pitukcheewanont P, Cheong HI, Jan de Beur S, Imanishi Y, Ito N, Lachmann RH, Tanaka H, Perwad F, Zhang L, Chen CY, Theodore-Oklota C, Mealiffe M, San Martin J, Carpenter TO, AXLES 1 Investigators (2018) 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. 33(8):1383–1393. https://doi.org/10.1002/jbmr.3475
Article CAS PubMed Google Scholar
Emma F, Cappa M, Antoniazzi F, Bianchi ML, Chiodini I, Eller Vainicher C, Di Iorgi N, Maghnie M, Cassio A, Balsamo A, Baronio F, de Sanctis L, Tessaris D, Baroncelli GI, Mora S, Brandi ML, Weber G, D’Ausilio A, Lanati EP (2019) X-linked hypophosphatemic rickets: an Italian experts’ opinion survey. Ital J Pediatr 45(1):67. https://doi.org/10.1186/s13052-019-0654-6.PMID:31151476;PMCID:PMC6545008
Article CAS PubMed PubMed Central Google Scholar
Rothenbuhler A, Schnabel D, Högler W, Linglart A (2020) Diagnosis, treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH). Metabolism 103S:153892. https://doi.org/10.1016/j.metabol.2019.03.009
Article CAS PubMed Google Scholar
Jose Jesus Broseta (2021) Different approaches to improve cohort identification using electronic health records: X-linked hypophosphatemia as an example, Intractable & Rare Diseases Research, 2021, Volume 10, Issue 1, Pages 17–22, Released on J-STAGE March 04, 2021, Advance online publication January 17, 2021, Online ISSN 2186–361X. 2186–3644, https://doi.org/10.5582/irdr.2020.03123.
Kidney Disease: Improving Global Outcomes (KDIGO) CKD Work Group (2024) KDIGO 2024 Clinical Practice Guideline for the Evaluation and Management of Chronic Kidney Disease. Kidney Int. 105(4S):S117–S314. https://doi.org/10.1016/j.kint.2023.10.018
Padidela R, Nilsson O, Makitie O, Beck-Nielsen S, Ariceta G, Schnabel D, Brandi ML, Boot A, Levtchenko E, Smyth M, Jandhyala R, Mughal Z (2020) The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study. Orphanet J Rare Dis 15(1):172. https://doi.org/10.1186/s13023-020-01434-4.PMID:32605590;PMCID:PMC7329472
Article PubMed PubMed Central Google Scholar
Whyte MP, Schranck FW, Armamento-Villareal R (1996) X-linked hypophosphatemia: a search for gender, race, anticipation, or parent of origin effects on disease expression in children. J Clin Endocrinol Metab 81(11):4075–4080. https://doi.org/10.1210/jcem.81.11.8923863
Article CAS PubMed Google Scholar
López-Romero LC, Broseta JJ, Guillén Olmos E, Devesa-Such RJ, Hernández-Jaras J (2021) X-linked hypophosphatemic rickets: diagnosis in adult and paucisymptomatic form. Reumatol Clin. 17(2):116–117. https://doi.org/10.1016/j.reuma.2019.07.007. (English, Spanish)
Haro JM, Palacín C, Vilagut G, Martínez M, Bernal M, Luque I, Codony M, Dolz M, Alonso J, y el Grupo ESEMeD-España (2006) Prevalencia de los trastornos mentales y factores asociados: resultados del estudio ESEMeD-España. Med Clin 126(12):445–451
Lo SH, Lachmann R, Williams A, Piglowska N, Lloyd AJ (2020) Exploring the burden of X-linked hypophosphatemia: a European multi-country qualitative study. Qual Life Res. 29(7):1883–1893. https://doi.org/10.1007/s11136-020-02465-x
Article CAS PubMed PubMed Central Google Scholar
Yanes MIL, Diaz-Curiel M, Peris P, Vicente C, Marin S, Ramon-Krauel M, Hernandez J, Broseta JJ, Espinosa L, Mendizabal S, Perez-Sukia L, Martínez V, Palazón C, Piñero JA, Calleja MA, Espin J, Arborio-Pinel R, Ariceta G (2022) Health-related quality of life of X-linked hypophosphatemia in Spain. Orphanet J Rare Dis 17(1):298. https://doi.org/10.1186/s13023-022-02452-0
Article PubMed PubMed Central Google Scholar
Chaussain-Miller C et al (2003) Dental abnormalities in patients with familial hypophosphatemic vitamin D-resistant rickets: prevention by early treatment with 1-hydroxyvitamin D. J Pediatr 142:324–331
Article CAS PubMed Google Scholar
DeLacey S, Liu Z, Broyles A, El-Azab SA, Guandique CF, James BC, Imel EA (2019) Hyperparathyroidism and parathyroidectomy in X-linked hypophosphatemia patients. Bone. 127:386–392. https://doi.org/10.1016/j.bone.2019.06.025
Article CAS PubMed PubMed Central Google Scholar
Takashi Y, Toyokawa K, Oda N, Muta Y, Yokomizo H, Fukumoto S, Kawanami D (2022) Combined treatment by burosumab and a calcimimetic can ameliorate hypophosphatemia due to excessive actions of FGF23 and PTH in adult XLH with tertiary hyperparathyroidism: a case report. Front Endocrinol (Lausanne) 2(13):1004624. https://doi.org/10.3389/fendo.2022.1004624
Colares Neto GP, Ide Yamauchi F, Hueb Baroni R, de Andrade BM, Cavalanti Gomes A, Chammas MC, Matsunaga MR (2019) Nephrocalcinosis and nephrolithiasis in X-linked hypophosphatemic rickets: diagnostic imaging and risk factors. J Endocr Soc 3(5):1053–1061. https://doi.org/10.1210/js.2018-00338
Article CAS PubMed PubMed Central Google Scholar
Patzer L et al (1999) Urinary supersaturation of calcium oxalate and phosphate in patients with X-linked hypophosphatemic rickets and in healthy schoolchildren. J Pediatr 135:611–617
Article CAS PubMed Google Scholar
Imel EA, Glorieux FH, Whyte MP, Munns CF, Ward LM, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Högler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Mao M, Chen CY, Skrinar A, San Martin J, Portale AA (2019) Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial. Lancet. 393(10189):2416–2427. https://doi.org/10.1016/S0140-6736(19)30654-3. (Erratum in: Lancet. 2019 Jul 13;394(10193):120)
Article CAS PubMed PubMed Central Google Scholar
Linglart A, Imel EA, Whyte MP, Portale AA, Högler W, Boot AM, Padidela R, Van’t Hoff W, Gottesman GS, Chen A, Skrinar A, Scott Roberts M, Carpenter TO (2022) Sustained efficacy and safety of burosumab, a monoclonal antibody to FGF23, in children with X-linked hypophosphatemia. J Clin Endocrinol Metab 107(3):813–824. https://doi.org/10.1210/clinem/dgab729
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A (2019) Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia. Nat Rev Nephrol 15(7):435–455. https://doi.org/10.1038/s41581-019-0152-5
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