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Rickets severity predicts clinical outcomes in children with X-linked hypophosphatemia: Utility of the radiographic Rickets Severity Score.

Thacher TD, Pettifor JM, Tebben PJ, Creo AL, Skrinar A, Mao M, Chen CY, Chang T, San Martin J, Carpenter TO.

Bone. 2019 May;122:76-81. doi: 10.1016/j.bone.2019.02.010. Epub 2019 Feb 14.


Burosumab Therapy in Children with X-Linked Hypophosphatemia.

Carpenter TO, Whyte MP, Imel EA, Boot AM, Högler W, Linglart A, Padidela R, Van't Hoff W, Mao M, Chen CY, Skrinar A, Kakkis E, San Martin J, Portale AA.

N Engl J Med. 2018 May 24;378(21):1987-1998. doi: 10.1056/NEJMoa1714641.


Validation of a Novel Scoring System for Changes in Skeletal Manifestations of Hypophosphatasia in Newborns, Infants, and Children: The Radiographic Global Impression of Change Scale.

Whyte MP, Fujita KP, Moseley S, Thompson DD, McAlister WH.

J Bone Miner Res. 2018 May;33(5):868-874. doi: 10.1002/jbmr.3377. Epub 2018 Feb 14.


Efficacy and safety of burosumab in children aged 1-4 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trial.

Whyte MP, Carpenter TO, Gottesman GS, Mao M, Skrinar A, San Martin J, Imel EA.

Lancet Diabetes Endocrinol. 2019 Mar;7(3):189-199. doi: 10.1016/S2213-8587(18)30338-3. Epub 2019 Jan 9.


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, 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.

J Bone Miner Res. 2018 Aug;33(8):1383-1393. doi: 10.1002/jbmr.3475. Epub 2018 Jun 26.


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, 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.

Lancet. 2019 Jun 15;393(10189):2416-2427. doi: 10.1016/S0140-6736(19)30654-3. Epub 2019 May 16. Erratum in: Lancet. 2019 Jul 13;394(10193):120.


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

Lyseng-Williamson KA.

Drugs Ther Perspect. 2018;34(11):497-506. doi: 10.1007/s40267-018-0560-9. Epub 2018 Oct 8. Erratum in: Drugs Ther Perspect. 2018;34(12):595.


X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3'-UTR Mutation c.*231A>G (A Retrospective Case-Control Study).

Smith PS, Gottesman GS, Zhang F, Cook F, Ramirez B, Wenkert D, Wollberg V, Huskey M, Mumm S, Whyte MP.

J Bone Miner Res. 2020 Jan 7. doi: 10.1002/jbmr.3955. [Epub ahead of print]


First-in-Asian Phase I Study of the Anti-Fibroblast Growth Factor 23 Monoclonal Antibody, Burosumab: Safety and Pharmacodynamics in Adults With X-linked Hypophosphatemia.

Cheong HI, Yoo HW, Adachi M, Tanaka H, Fujiwara I, Hasegawa Y, Harada D, Sugimoto M, Okada Y, Kato M, Shimazaki R, Ozono K, Seino Y.

JBMR Plus. 2018 Sep 14;3(2):e10074. doi: 10.1002/jbm4.10074. eCollection 2019 Feb.


Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period.

Portale AA, Carpenter TO, Brandi ML, Briot K, Cheong HI, Cohen-Solal M, Crowley R, Jan De Beur S, Eastell R, Imanishi Y, Imel EA, Ing S, Ito N, Javaid M, Kamenicky P, Keen R, Kubota T, Lachmann R, Perwad F, Pitukcheewanont P, Ralston SH, Takeuchi Y, Tanaka H, Weber TJ, Yoo HW, Zhang L, Theodore-Oklota C, Mealiffe M, San Martin J, Insogna K.

Calcif Tissue Int. 2019 Sep;105(3):271-284. doi: 10.1007/s00223-019-00568-3. Epub 2019 Jun 4.


Serum FGF23 levels in normal and disordered phosphorus homeostasis.

Weber TJ, Liu S, Indridason OS, Quarles LD.

J Bone Miner Res. 2003 Jul;18(7):1227-34.


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, Ito N, Kubota T, Nakamura A, Zhang L, Mealiffe M, San Martin J, Portale AA.

J Bone Miner Res. 2019 Dec;34(12):2183-2191. doi: 10.1002/jbmr.3843. Epub 2019 Oct 1.


X-Linked Hypophosphatemia and FGF23-Related Hypophosphatemic Diseases: Prospect for New Treatment.

Kinoshita Y, Fukumoto S.

Endocr Rev. 2018 Jun 1;39(3):274-291. doi: 10.1210/er.2017-00220. Review.


Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets.

Mäkitie O, Doria A, Kooh SW, Cole WG, Daneman A, Sochett E.

J Clin Endocrinol Metab. 2003 Aug;88(8):3591-7.


Burosumab: First Global Approval.

Lamb YN.

Drugs. 2018 Apr;78(6):707-714. doi: 10.1007/s40265-018-0905-7. Review.


Circulating levels of soluble klotho and FGF23 in X-linked hypophosphatemia: circadian variance, effects of treatment, and relationship to parathyroid status.

Carpenter TO, Insogna KL, Zhang JH, Ellis B, Nieman S, Simpson C, Olear E, Gundberg CM.

J Clin Endocrinol Metab. 2010 Nov;95(11):E352-7. doi: 10.1210/jc.2010-0589. Epub 2010 Aug 4.


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

Skrinar A, Dvorak-Ewell M, Evins A, Macica C, Linglart A, Imel EA, Theodore-Oklota C, San Martin J.

J Endocr Soc. 2019 May 7;3(7):1321-1334. doi: 10.1210/js.2018-00365. eCollection 2019 Jul 1.


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

Rothenbuhler A, Schnabel D, Högler W, Linglart A.

Metabolism. 2019 Mar 27:153892. doi: 10.1016/j.metabol.2019.03.009. [Epub ahead of print]


Magnetic Resonance Imaging Features as Surrogate Markers of X-Linked Hypophosphatemic Rickets Activity.

Lempicki M, Rothenbuhler A, Merzoug V, Franchi-Abella S, Chaussain C, Adamsbaum C, Linglart A.

Horm Res Paediatr. 2017;87(4):244-253. doi: 10.1159/000464142. Epub 2017 Apr 3.


Reliability and Validity of the 6-Minute Walk Test in Hypophosphatasia.

Phillips D, Tomazos IC, Moseley S, L'Italien G, Gomes da Silva H, Lerma Lara S.

JBMR Plus. 2019 Mar 1;3(6):e10131. doi: 10.1002/jbm4.10131. eCollection 2019 Jun.

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