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FGF23 and Associated Disorders of Phosphate Wasting.

Gohil A, Imel EA.

Pediatr Endocrinol Rev. 2019 Sep;17(1):17-34. doi: 10.17458/


FGF23, Hypophosphatemia, and Emerging Treatments.

Imel EA, Biggin A, Schindeler A, Munns CF.

JBMR Plus. 2019 May 13;3(8):e10190. doi: 10.1002/jbm4.10190. eCollection 2019 Aug. Review.


Hyperparathyroidism and parathyroidectomy in X-linked hypophosphatemia patients.

DeLacey S, Liu Z, Broyles A, El-Azab SA, Guandique CF, James BC, Imel EA.

Bone. 2019 Oct;127:386-392. doi: 10.1016/j.bone.2019.06.025. Epub 2019 Jul 2.


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.


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.


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.


Interferon Gamma-1b Does Not Increase Markers of Bone Resorption in Autosomal Dominant Osteopetrosis.

Imel EA, Liu Z, Acton D, Coffman M, Gebregziabher N, Tong Y, Econs MJ.

J Bone Miner Res. 2019 Aug;34(8):1436-1445. doi: 10.1002/jbmr.3715. Epub 2019 May 13.


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.


Genetic Variants Associated with Circulating Fibroblast Growth Factor 23.

Robinson-Cohen C, Bartz TM, Lai D, Ikizler TA, Peacock M, Imel EA, Michos ED, Foroud TM, Akesson K, Taylor KD, Malmgren L, Matsushita K, Nethander M, Eriksson J, Ohlsson C, Mellström D, Wolf M, Ljunggren O, McGuigan F, Rotter JI, Karlsson M, Econs MJ, Ix JH, Lutsey PL, Psaty BM, de Boer IH, Kestenbaum BR.

J Am Soc Nephrol. 2018 Oct;29(10):2583-2592. doi: 10.1681/ASN.2018020192. Epub 2018 Sep 14.


Pharmacological management of X-linked hypophosphataemia.

Imel EA, White KE.

Br J Clin Pharmacol. 2019 Jun;85(6):1188-1198. doi: 10.1111/bcp.13763. Epub 2018 Oct 29. Review.


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 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.


Prevalence of Nephrocalcinosis in Pseudohypoparathyroidism: Is Screening Necessary?

Hansen DW, Nebesio TD, DiMeglio LA, Eugster EA, Imel EA.

J Pediatr. 2018 Aug;199:263-266. doi: 10.1016/j.jpeds.2018.03.003. Epub 2018 Apr 23.


Infants With Congenital Adrenal Hyperplasia Are at Risk for Hypercalcemia, Hypercalciuria, and Nephrocalcinosis.

Schoelwer MJ, Viswanathan V, Wilson A, Nailescu C, Imel EA.

J Endocr Soc. 2017 Aug 1;1(9):1160-1167. doi: 10.1210/js.2017-00145. eCollection 2017 Sep 1.


Unexpected widespread hypophosphatemia and bone disease associated with elemental formula use in infants and children.

Gonzalez Ballesteros LF, Ma NS, Gordon RJ, Ward L, Backeljauw P, Wasserman H, Weber DR, DiMeglio LA, Gagne J, Stein R, Cody D, Simmons K, Zimakas P, Topor LS, Agrawal S, Calabria A, Tebben P, Faircloth R, Imel EA, Casey L, Carpenter TO.

Bone. 2017 Apr;97:287-292. doi: 10.1016/j.bone.2017.02.003. Epub 2017 Feb 4.


Serum fibroblast growth factor 23, serum iron and bone mineral density in premenopausal women.

Imel EA, Liu Z, McQueen AK, Acton D, Acton A, Padgett LR, Peacock M, Econs MJ.

Bone. 2016 May;86:98-105. doi: 10.1016/j.bone.2016.03.005. Epub 2016 Mar 8.


Genome-wide association study of serum iron phenotypes in premenopausal women of European descent.

Koller DL, Imel EA, Lai D, Padgett LR, Acton D, Gray A, Peacock M, Econs MJ, Foroud T.

Blood Cells Mol Dis. 2016 Mar;57:50-3. doi: 10.1016/j.bcmd.2015.12.002. Epub 2015 Dec 3.


Effect of four monthly doses of a human monoclonal anti-FGF23 antibody (KRN23) on quality of life in X-linked hypophosphatemia.

Ruppe MD, Zhang X, Imel EA, Weber TJ, Klausner MA, Ito T, Vergeire M, Humphrey JS, Glorieux FH, Portale AA, Insogna K, Peacock M, Carpenter TO.

Bone Rep. 2016 May 13;5:158-162. doi: 10.1016/j.bonr.2016.05.004. eCollection 2016 Dec.


Proportion of osteoporotic women remaining at risk for fracture despite adherence to oral bisphosphonates.

Imel EA, Eckert G, Modi A, Li Z, Martin J, de Papp A, Allen K, Johnston CC, Hui SL, Liu Z.

Bone. 2016 Feb;83:267-275. doi: 10.1016/j.bone.2015.11.021. Epub 2015 Dec 2.


Disparities in osteoporosis treatments.

Liu Z, Weaver J, de Papp A, Li Z, Martin J, Allen K, Hui S, Imel EA.

Osteoporos Int. 2016 Feb;27(2):509-19. doi: 10.1007/s00198-015-3249-0. Epub 2015 Jul 28.


Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients.

Fisher MM, Cabrera SM, Imel EA.

Endocrinol Diabetes Metab Case Rep. 2015;2015:150040. doi: 10.1530/EDM-15-0040. Epub 2015 Jun 18.


A Practical Clinical Approach to Paediatric Phosphate Disorders.

Imel EA, Carpenter TO.

Endocr Dev. 2015;28:134-61. doi: 10.1159/000381036. Epub 2015 Jun 12. Review.


Pharmacokinetics and pharmacodynamics of a human monoclonal anti-FGF23 antibody (KRN23) in the first multiple ascending-dose trial treating adults with X-linked hypophosphatemia.

Zhang X, Imel EA, Ruppe MD, Weber TJ, Klausner MA, Ito T, Vergeire M, Humphrey J, Glorieux FH, Portale AA, Insogna K, Carpenter TO, Peacock M.

J Clin Pharmacol. 2016 Feb;56(2):176-85. doi: 10.1002/jcph.570. Epub 2015 Aug 11.


The Case | Ectopic calcifications in a child.

Keskar VS, Imel EA, Kulkarni M, Mane S, Jamale TE, Econs MJ, Hase NK.

Kidney Int. 2015 May;87(5):1079-81. doi: 10.1038/ki.2014.76. No abstract available.


FGF23 is elevated in multiple myeloma and increases heparanase expression by tumor cells.

Suvannasankha A, Tompkins DR, Edwards DF, Petyaykina KV, Crean CD, Fournier PG, Parker JM, Sandusky GE, Ichikawa S, Imel EA, Chirgwin JM.

Oncotarget. 2015 Aug 14;6(23):19647-60.


Prolonged Correction of Serum Phosphorus in Adults With X-Linked Hypophosphatemia Using Monthly Doses of KRN23.

Imel EA, Zhang X, Ruppe MD, Weber TJ, Klausner MA, Ito T, Vergeire M, Humphrey JS, Glorieux FH, Portale AA, Insogna K, Peacock M, Carpenter TO.

J Clin Endocrinol Metab. 2015 Jul;100(7):2565-73. doi: 10.1210/jc.2015-1551. Epub 2015 Apr 28. Erratum in: J Clin Endocrinol Metab. 2017 Jan 1;102(1):336.


Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action.

Folsom LJ, Imel EA.

Curr Osteoporos Rep. 2015 Apr;13(2):78-87. doi: 10.1007/s11914-015-0254-3. Review.


Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia.

Carpenter TO, Imel EA, Ruppe MD, Weber TJ, Klausner MA, Wooddell MM, Kawakami T, Ito T, Zhang X, Humphrey J, Insogna KL, Peacock M.

J Clin Invest. 2014 Apr;124(4):1587-97. doi: 10.1172/JCI72829. Epub 2014 Feb 24.


Iron and fibroblast growth factor 23 in X-linked hypophosphatemia.

Imel EA, Gray AK, Padgett LR, Econs MJ.

Bone. 2014 Mar;60:87-92. doi: 10.1016/j.bone.2013.12.001. Epub 2013 Dec 8.


The changing face of hypophosphatemic disorders in the FGF-23 era.

Lee JY, Imel EA.

Pediatr Endocrinol Rev. 2013 Jun;10 Suppl 2:367-79. Review.


Approach to the hypophosphatemic patient.

Imel EA, Econs MJ.

J Clin Endocrinol Metab. 2012 Mar;97(3):696-706. doi: 10.1210/jc.2011-1319.


Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho).

Farrow EG, Imel EA, White KE.

Best Pract Res Clin Rheumatol. 2011 Oct;25(5):735-47. doi: 10.1016/j.berh.2011.10.020. Review.


Fluorosis because of prolonged voriconazole therapy in a teenager with acute myelogenous leukemia.

Skiles JL, Imel EA, Christenson JC, Bell JE, Hulbert ML.

J Clin Oncol. 2011 Nov 10;29(32):e779-82. doi: 10.1200/JCO.2011.35.9604. Epub 2011 Oct 3. No abstract available.


Iron modifies plasma FGF23 differently in autosomal dominant hypophosphatemic rickets and healthy humans.

Imel EA, Peacock M, Gray AK, Padgett LR, Hui SL, Econs MJ.

J Clin Endocrinol Metab. 2011 Nov;96(11):3541-9. doi: 10.1210/jc.2011-1239. Epub 2011 Aug 31.


A clinician's guide to X-linked hypophosphatemia.

Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL.

J Bone Miner Res. 2011 Jul;26(7):1381-8. doi: 10.1002/jbmr.340. Epub 2011 May 2. Review. Erratum in: J Bone Miner Res. 2015 Feb;30(2):394.


Establishment of sandwich ELISA for soluble alpha-Klotho measurement: Age-dependent change of soluble alpha-Klotho levels in healthy subjects.

Yamazaki Y, Imura A, Urakawa I, Shimada T, Murakami J, Aono Y, Hasegawa H, Yamashita T, Nakatani K, Saito Y, Okamoto N, Kurumatani N, Namba N, Kitaoka T, Ozono K, Sakai T, Hataya H, Ichikawa S, Imel EA, Econs MJ, Nabeshima Y.

Biochem Biophys Res Commun. 2010 Jul 30;398(3):513-8. doi: 10.1016/j.bbrc.2010.06.110. Epub 2010 Jul 1.


Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.

Ichikawa S, Baujat G, Seyahi A, Garoufali AG, Imel EA, Padgett LR, Austin AM, Sorenson AH, Pejin Z, Topouchian V, Quartier P, Cormier-Daire V, Dechaux M, Malandrinou FCh, Singhellakis PN, Le Merrer M, Econs MJ.

Am J Med Genet A. 2010 Apr;152A(4):896-903. doi: 10.1002/ajmg.a.33337.


Treatment of X-linked hypophosphatemia with calcitriol and phosphate increases circulating fibroblast growth factor 23 concentrations.

Imel EA, DiMeglio LA, Hui SL, Carpenter TO, Econs MJ.

J Clin Endocrinol Metab. 2010 Apr;95(4):1846-50. doi: 10.1210/jc.2009-1671. Epub 2010 Feb 15.


Phosphaturic mesenchymal tumor, mixed connective tissue variant, of the mandible: report of a case and review of the literature.

Woo VL, Landesberg R, Imel EA, Singer SR, Folpe AL, Econs MJ, Kim T, Harik LR, Jacobs TP.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009 Dec;108(6):925-32. doi: 10.1016/j.tripleo.2009.07.005. Epub 2009 Oct 14. Review.


Genetics of familial tumoral calcinosis.

Ichikawa S, Imel EA, Econs MJ.

Am J Kidney Dis. 2009 Mar;53(3):563-4. doi: 10.1053/j.ajkd.2008.10.051. No abstract available.


Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets.

Ichikawa S, Traxler EA, Estwick SA, Curry LR, Johnson ML, Sorenson AH, Imel EA, Econs MJ.

Bone. 2008 Oct;43(4):663-6. doi: 10.1016/j.bone.2008.06.002. Epub 2008 Jun 18.


A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.

Ichikawa S, Imel EA, Kreiter ML, Yu X, Mackenzie DS, Sorenson AH, Goetz R, Mohammadi M, White KE, Econs MJ.

J Musculoskelet Neuronal Interact. 2007 Oct-Dec;7(4):318-9. No abstract available.


Fibrous dysplasia, phosphate wasting and fibroblast growth factor 23.

Imel EA, Econs MJ.

Pediatr Endocrinol Rev. 2007 Aug;4 Suppl 4:434-9. Review.


A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.

Ichikawa S, Imel EA, Kreiter ML, Yu X, Mackenzie DS, Sorenson AH, Goetz R, Mohammadi M, White KE, Econs MJ.

J Clin Invest. 2007 Sep;117(9):2684-91.


Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations.

Ichikawa S, Guigonis V, Imel EA, Courouble M, Heissat S, Henley JD, Sorenson AH, Petit B, Lienhardt A, Econs MJ.

J Clin Endocrinol Metab. 2007 May;92(5):1943-7. Epub 2007 Feb 20.


FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets.

Imel EA, Hui SL, Econs MJ.

J Bone Miner Res. 2007 Apr;22(4):520-6.


Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene.

Ichikawa S, Imel EA, Sorenson AH, Severe R, Knudson P, Harris GJ, Shaker JL, Econs MJ.

J Clin Endocrinol Metab. 2006 Nov;91(11):4472-5. Epub 2006 Aug 29.


Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria.

Ichikawa S, Sorenson AH, Imel EA, Friedman NE, Gertner JM, Econs MJ.

J Clin Endocrinol Metab. 2006 Oct;91(10):4022-7. Epub 2006 Jul 18.


Sensitivity of fibroblast growth factor 23 measurements in tumor-induced osteomalacia.

Imel EA, Peacock M, Pitukcheewanont P, Heller HJ, Ward LM, Shulman D, Kassem M, Rackoff P, Zimering M, Dalkin A, Drobny E, Colussi G, Shaker JL, Hoogendoorn EH, Hui SL, Econs MJ.

J Clin Endocrinol Metab. 2006 Jun;91(6):2055-61. Epub 2006 Mar 21.


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