Anthony Portale, MD

  1. Imel EA, Glorieux FH, Whyte MP, Portale AA, Munns CF, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, H?gler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Chen A, Roberts MS, Ward LM. Burosumab Versus Phosphate/Active Vitamin D in Pediatric X-Linked Hypophosphatemia: A Sub-group Analysis by Dose Level. The Journal of clinical endocrinology and metabolism 2023. PMID: 37084401


  2. Weber TJ, Imel EA, Carpenter TO, Peacock M, Portale AA, Hetzer J, Merritt JL, Insogna K. Long-term Burosumab Administration Is Safe and Effective in Adults With X-linked Hypophosphatemia. The Journal of clinical endocrinology and metabolism 2022. PMID: 36072994


  3. 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. 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. Calcified tissue international 2022. PMID: 35927518


  4. Ward LM, Glorieux FH, Whyte MP, Munns CF, Portale AA, Högler W, Simmons JH, Gottesman GS, Padidela R, Namba N, Cheong HI, Nilsson O, Mao M, Chen A, Skrinar A, Roberts MS, Imel EA. Impact of Burosumab Compared with Conventional Therapy in Younger Versus Older Children with X-Linked Hypophosphatemia. 2022. PMID: 35533340


  5. Hanudel MR, Laster ML, Portale AA, Dokras A, Quigley RP, Guzman GAL, Zaritsky JJ, Hayde NA, Kaskel FJ, Mitsnefes MM, Ramirez JA, Imani PD, Srivaths PR, Kogon AJ, Denburg MR, Blydt-Hansen TD, Reyes LZ, Greenbaum LA, Weidemann DK, Warady BA, Elashoff DA, Mendley SR, Isakova T, Salusky IB. A review of ferric citrate clinical studies, and the rationale and design of the Ferric Citrate and Chronic Kidney Disease in Children (FIT4KiD) trial. 2022. PMID: 35237863


  6. Linglart A, Imel EA, Whyte MP, Portale AA, Högler W, Boot AM, Padidela R, Van't Hoff W, Gottesman GS, Chen A, Skrinar A, Roberts MS, Carpenter TO. Sustained efficacy and safety of burosumab, a monoclonal antibody to FGF23, in children with X-linked hypophosphatemia. The Journal of clinical endocrinology and metabolism 2021. PMID: 34636899


  7. 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. 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. RMD open 2021. PMID: 34548383


  8. 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. Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia. Calcified tissue international 2021. PMID: 33484279


  9. Yokoyama JS, Matsuda-Abedini M, Denburg MR, Kumar J, Warady BA, Furth SL, Hooper SR, Portale AA, Perwad F. Association Between Chronic Kidney Disease-Mineral Bone Disease (CKD-MBD) and Cognition in Children: Chronic Kidney Disease in Children (CKiD) Study. Kidney Medicine 2020. PMID: 32775979




  10. 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. 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. Calcified tissue international 2019. PMID: 31165191


  11. 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. Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial. Lancet (London, England) 2019. PMID: 31104833




  12. Altemose KE, Kumar J, Portale AA, Warady BA, Furth SL, Fadrowski JJ, Atkinson MA. Vitamin D insufficiency, hemoglobin, and anemia in children with chronic kidney disease. Pediatric nephrology (Berlin, Germany) 2018. PMID: 30008129


  13. 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. 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. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2018. PMID: 29947083



  14. 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. Burosumab Therapy in Children with X-Linked Hypophosphatemia. The New England journal of medicine 2018. PMID: 29791829



  15. Carpenter TO, Shaw NJ, Portale AA, Ward LM, Abrams SA, Pettifor JM. Rickets. Nature reviews. Disease primers 2017. PMID: 29265106


  16. Mitsnefes MM, Betoko A, Schneider MF, Salusky IB, Wolf MS, Jüppner H, Warady BA, Furth SL, Portale AA. FGF23 and Left Ventricular Hypertrophy in Children with CKD. Clinical journal of the American Society of Nephrology : CJASN 2017. PMID: 29025789


  17. Portale AA, Wolf MS, Messinger S, Perwad F, Jüppner H, Warady BA, Furth SL, Salusky IB. Fibroblast Growth Factor 23 and Risk of CKD Progression in Children. Clinical journal of the American Society of Nephrology : CJASN 2016. PMID: 27561289


  18. 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. Effect of four monthly doses of a human monoclonal anti-FGF23 antibody (KRN23) on quality of life in X-linked hypophosphatemia. Bone reports 2016. PMID: 28326356



  19. Portale AA, Zhang MY, David V, Martin A, Jiao Y, Gu W, Perwad F. Characterization of FGF23-Dependent Egr-1 Cistrome in the Mouse Renal Proximal Tubule. PloS one 2015. PMID: 26588476


  20. Kumar J, McDermott K, Abraham AG, Friedman LA, Johnson VL, Kaskel FJ, Furth SL, Warady BA, Portale AA, Melamed ML. Prevalence and correlates of 25-hydroxyvitamin D deficiency in the Chronic Kidney Disease in Children (CKiD) cohort. Pediatric nephrology (Berlin, Germany) 2015. PMID: 26307635


  21. 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. Pharmacokinetics and pharmacodynamics of a human monoclonal anti-FGF23 antibody (KRN23) in the first multiple ascending-dose trial treating adults with X-linked hypophosphatemia. Journal of clinical pharmacology 2015. PMID: 26073451


  22. Denburg MR, Kumar J, Jemielita T, Brooks ER, Skversky A, Portale AA, Salusky IB, Warady BA, Furth SL, Leonard MB. Fracture Burden and Risk Factors in Childhood CKD: Results from the CKiD Cohort Study. Journal of the American Society of Nephrology : JASN 2015. PMID: 26139439



  23. 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. Prolonged Correction of Serum Phosphorus in Adults With X-Linked Hypophosphatemia Using Monthly Doses of KRN23. The Journal of clinical endocrinology and metabolism 2015. PMID: 25919461



  24. Wassner SJ, Chesney RW, Friedman A, Chantler C, Portale AA. Malcolm A. Holliday, M.D, January 12, 1924 - March 26, 2014. Pediatric nephrology (Berlin, Germany) 2014. PMID: 24817341



  25. Portale AA, Wolf M, Jüppner H, Messinger S, Kumar J, Wesseling-Perry K, Schwartz GJ, Furth SL, Warady BA, Salusky IB. Disordered FGF23 and mineral metabolism in children with CKD. Clinical journal of the American Society of Nephrology : CJASN 2013. PMID: 24311704


  26. Chanakul A, Zhang MY, Louw A, Armbrecht HJ, Miller WL, Portale AA, Perwad F. FGF-23 regulates CYP27B1 transcription in the kidney and in extra-renal tissues. PloS one 2013. PMID: 24019880




  27. Chaudhuri A, Ozawa M, Everly MJ, Ettenger R, Dharnidharka V, Benfield M, Mathias R, Portale A, McDonald R, Harmon W, Kershaw D, Vehaskari VM, Kamil E, Baluarte HJ, Warady B, Li L, Sigdel TK, Hsieh SC, Dai H, Naesens M, Waskerwitz J, Salvatierra O, Terasaki PI, Sarwal MM. The clinical impact of humoral immunity in pediatric renal transplantation. Journal of the American Society of Nephrology : JASN 2013. PMID: 23449533


  28. Li L, Khatri P, Sigdel TK, Tran T, Ying L, Vitalone MJ, Chen A, Hsieh S, Dai H, Zhang M, Naesens M, Zarkhin V, Sansanwal P, Chen R, Mindrinos M, Xiao W, Benfield M, Ettenger RB, Dharnidharka V, Mathias R, Portale A, McDonald R, Harmon W, Kershaw D, Vehaskari VM, Kamil E, Baluarte HJ, Warady B, Davis R, Butte AJ, Salvatierra O, Sarwal MM. A peripheral blood diagnostic test for acute rejection in renal transplantation. American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 2012. PMID: 23009139


  29. Sarwal MM, Ettenger RB, Dharnidharka V, Benfield M, Mathias R, Portale A, McDonald R, Harmon W, Kershaw D, Vehaskari VM, Kamil E, Baluarte HJ, Warady B, Tang L, Liu J, Li L, Naesens M, Sigdel T, Waskerwitz J, Salvatierra O. Complete steroid avoidance is effective and safe in children with renal transplants: a multicenter randomized trial with three-year follow-up. American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 2012. PMID: 22694755



  30. Zhang MY, Ranch D, Pereira RC, Armbrecht HJ, Portale AA, Perwad F. Chronic inhibition of ERK1/2 signaling improves disordered bone and mineral metabolism in hypophosphatemic (Hyp) mice. Endocrinology 2012. PMID: 22334725







  31. Kim CJ, Kaplan LE, Perwad F, Huang N, Sharma A, Choi Y, Miller WL, Portale AA. Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency. The Journal of clinical endocrinology and metabolism 2007. PMID: 17488797



  32. Matsuda-Abedini M, Portale AA, Shah A, Neuhaus J, McEnhill M, Mathias RS. Persistent secondary hyperparathyroidism after renal transplantation in children. Pediatric nephrology (Berlin, Germany) 2005. PMID: 16385389


  33. Perwad F, Azam N, Zhang MY, Yamashita T, Tenenhouse HS, Portale AA. Dietary and serum phosphorus regulate fibroblast growth factor 23 expression and 1,25-dihydroxyvitamin D metabolism in mice. Endocrinology 2005. PMID: 16123154


  34. Feldman BJ, Rosenthal SM, Vargas GA, Fenwick RG, Huang EA, Matsuda-Abedini M, Lustig RH, Mathias RS, Portale AA, Miller WL, Gitelman SE. Nephrogenic syndrome of inappropriate antidiuresis. The New England journal of medicine 2005. PMID: 15872203




  35. Zhang MY, Wang X, Wang JT, Compagnone NA, Mellon SH, Olson JL, Tenenhouse HS, Miller WL, Portale AA. Dietary phosphorus transcriptionally regulates 25-hydroxyvitamin D-1alpha-hydroxylase gene expression in the proximal renal tubule. Endocrinology 2002. PMID: 11796514








  36. Miller WL, Portale AA. Genetic causes of rickets. Current opinion in pediatrics 1999. PMID: 10439207


  37. Hoppe B, Kemper MJ, Bökenkamp A, Portale AA, Cohn RA, Langman CB. Plasma calcium oxalate supersaturation in children with primary hyperoxaluria and end-stage renal failure. Kidney international 1999. PMID: 10411702


  38. Wang JT, Lin CJ, Burridge SM, Fu GK, Labuda M, Portale AA, Miller WL. Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families. American journal of human genetics 1998. PMID: 9837822


  39. Portale AA, Miller WL. Hereditary rickets revealed. Kidney international 1998. PMID: 9844157













  40. Jacobson MA, Gambertoglio JG, Aweeka FT, Causey DM, Portale AA. Foscarnet-induced hypocalcemia and effects of foscarnet on calcium metabolism. The Journal of clinical endocrinology and metabolism 1991. PMID: 1827127


  41. Potter DE, Portale AA, Melzer JS, Feduska NJ, Garovoy MR, Husing RM, Salvatierra O. Are blood transfusions beneficial in the cyclosporine era? Pediatric nephrology (Berlin, Germany) 1991. PMID: 2025530



  42. Sebastian A, Hernandez RE, Portale AA, Colman J, Tatsuno J, Morris RC. Dietary potassium influences kidney maintenance of serum phosphorus concentration. Kidney international 1990. PMID: 2345430




  43. Farine D, Jackson U, Portale A, Baxi L, Fox HE. Pregnancy complicated by maternal spina bifida. A report of two cases. The Journal of reproductive medicine 1988. PMID: 3283355













  44. Holliday MA, McHenry-Richardson K, Portale A. Nutritional management of chronic renal disease. The Medical clinics of North America 1979. PMID: 388114