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The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data.
Ariceta G, Beck-Nielsen SS, Boot AM, Brandi ML, Briot K, de Lucas Collantes C, Emma F, Giannini S, Haffner D, Keen R, Levtchenko E, Mӓkitie O, Mughal MZ, Nilsson O, Schnabel D, Tripto-Shkolnik L, Liu J, Williams A, Wood S, Zillikens MC. Ariceta G, et al. Among authors: williams a. Orphanet J Rare Dis. 2023 Sep 27;18(1):304. doi: 10.1186/s13023-023-02882-4. Orphanet J Rare Dis. 2023. PMID: 37752558 Free PMC article.
Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia.
Padidela R, Whyte MP, Glorieux FH, Munns CF, Ward LM, Nilsson O, Portale AA, Simmons JH, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Högler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Williams A, Nixon A, Sun W, Chen A, Skrinar A, Imel EA. Padidela R, et al. Among authors: williams a. Calcif Tissue Int. 2021 May;108(5):622-633. doi: 10.1007/s00223-020-00797-x. Epub 2021 Jan 23. Calcif Tissue Int. 2021. PMID: 33484279 Free PMC article. Clinical Trial.
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.
Briot K, Portale AA, Brandi ML, Carpenter TO, Cheong HI, Cohen-Solal M, Crowley RK, Eastell R, Imanishi Y, Ing S, Insogna K, Ito N, Jan de Beur S, Javaid MK, Kamenicky P, Keen R, Kubota T, Lachmann RH, Perwad F, Pitukcheewanont P, Ralston SH, Takeuchi Y, Tanaka H, Weber TJ, Yoo HW, Nixon A, Nixon M, Sun W, Williams A, Imel EA. Briot K, et al. Among authors: williams a. RMD Open. 2021 Sep;7(3):e001714. doi: 10.1136/rmdopen-2021-001714. RMD Open. 2021. PMID: 34548383 Free PMC article. Clinical Trial.
Efficacy of Burosumab in Adults with X-linked Hypophosphatemia (XLH): A Post Hoc Subgroup Analysis of a Randomized Double-Blind Placebo-Controlled Phase 3 Study.
Brandi ML, Jan de Beur S, Briot K, Carpenter T, Cheong HI, Cohen-Solal M, Crowley RK, Eastell R, Imanishi Y, Imel EA, Ing SW, Insogna K, Ito N, Javaid K, Kamenicky P, Keen R, Kubota T, Lachmann RH, Perwad F, Pitukcheewanont P, Portale A, Ralston SH, Tanaka H, Weber TJ, Yoo HW, Sun W, Williams A, Nixon A, Takeuchi Y. Brandi ML, et al. Among authors: williams a. Calcif Tissue Int. 2022 Oct;111(4):409-418. doi: 10.1007/s00223-022-01006-7. Epub 2022 Aug 4. Calcif Tissue Int. 2022. PMID: 35927518 Clinical Trial.
Benefit of burosumab in adults with X-linked hypophosphataemia (XLH) is maintained with long-term treatment.
Kamenicky P, Briot K, Brandi ML, Cohen-Solal M, Crowley RK, Keen R, Kolta S, Lachmann RH, Lecoq AL, Ralston SH, Walsh JS, Rylands AJ, Williams A, Sun W, Nixon A, Nixon M, Javaid MK. Kamenicky P, et al. Among authors: williams a. RMD Open. 2023 Feb;9(1):e002676. doi: 10.1136/rmdopen-2022-002676. RMD Open. 2023. PMID: 36854566 Free PMC article. Clinical Trial.
A patient-centred and multi-stakeholder co-designed observational prospective study protocol: Example of the adolescent experience of treatment for X-linked hypophosphataemia (XLH).
Saraff V, Boot AM, Linglart A, Semler O, Harvengt P, Williams A, Bailey KMA, Glen F, Davies EH, Wood S, Greentree S, Rylands AJ. Saraff V, et al. Among authors: williams a. PLoS One. 2024 Jan 19;19(1):e0295080. doi: 10.1371/journal.pone.0295080. eCollection 2024. PLoS One. 2024. PMID: 38241270 Free PMC article.
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