Roth KS, Ward RJ, Chan JCM, Sarafoglou K. Disorders of calcium, phosphate and bone metabolism. Sarafoglou K, Hoffmann GF, Roth KS, eds. Pediatric Endocrinology and Inborn Errors of Metabolism. New York, NY: McGraw Hill; 2009. 619-64.
Burckhardt MA, Schifferli A, Krieg AH, Baumhoer D, Szinnai G, Rudin C. Tumor-associated FGF-23-induced hypophosphatemic rickets in children: a case report and review of the literature. Pediatr Nephrol. 2014 Oct 18. [QxMD MEDLINE Link].
Zou M, Bulus D, Al-Rijjal RA, Andiran N, BinEssa H, Kattan WE, et al. Hypophosphatemic rickets caused by a novel splice donor site mutation and activation of two cryptic splice donor sites in the PHEX gene. J Pediatr Endocrinol Metab. 2014 Aug 5. [QxMD MEDLINE Link].
Migeon BR. X inactivation, female mosaicism, and sex differences in renal diseases. J Am Soc Nephrol. 2008 Nov. 19 (11):2052-9. [QxMD MEDLINE Link].
WINTERS RW, GRAHAM JB, WILLIAMS TF, McFALLS VW, BURNETT CH. A genetic study of familial hypophosphatemia and vitamin D resistant rickets with a review of the literature. Medicine (Baltimore). 1958 May. 37 (2):97-142. [QxMD MEDLINE Link].
Prié D, Friedlander G. Genetic disorders of renal phosphate transport. N Engl J Med. 2010 Jun 24. 362(25):2399-409. [QxMD MEDLINE Link].
Santos F, Fuente R, Mejia N, Mantecon L, Gil-Peña H, Ordoñez FA. Hypophosphatemia and growth. Pediatr Nephrol. 2013 Apr. 28(4):595-603. [QxMD MEDLINE Link].
Hanna C, Potretzke TA, Chedid M, et al. Kidney Cysts in Hypophosphatemic Rickets With Hypercalciuria: A Case Series. Kidney Med. 2022 Mar. 4 (3):100419. [QxMD MEDLINE Link]. [Full Text].
Crysvita (burosumab) [package insert]. Novato, CA: Ultragenyx Pharmaceutical Inc. April, 2018. Available at [Full Text].
Brooks M. FDA Clears First Drug for Rare Inherited Form of Rickets. Medscape Medical News. 2018 Apr 17. [Full Text].
US Food and Drug Administration. FDA approves first therapy for rare inherited form of rickets, x-linked hypophosphatemia. 2018 Apr 17. Available at https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm604810.htm.
Keskin M, Savas-Erdeve S, Sagsak E, Cetinkaya S, Aycan Z. Risk factors affecting the development of nephrocalcinosis, the most common complication of hypophosphatemic rickets. J Pediatr Endocrinol Metab. 2015 Nov 1. 28 (11-12):1333-7. [QxMD MEDLINE Link].
Jaszczuk P, Rogers GF, Guzman R, Proctor MR. X-linked hypophosphatemic rickets and sagittal craniosynostosis: three patients requiring operative cranial expansion: case series and literature review. Childs Nerv Syst. 2016 May. 32 (5):887-91. [QxMD MEDLINE Link].
Bastepe M, Jüppner H. Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation. Rev Endocr Metab Disord. 2008 Jun. 9 (2):171-80. [QxMD MEDLINE Link].
Baum M, Syal A, Quigley R, Seikaly M. Role of prostaglandins in the pathogenesis of X-linked hypophosphatemia. Pediatr Nephrol. 2006 Aug. 21(8):1067-74. [QxMD MEDLINE Link].
Jehan F, Gaucher C, Nguyen TM, Walrant-Debray O, Lahlou N, Sinding C, et al. Vitamin D receptor genotype in hypophosphatemic rickets as a predictor of growth and response to treatment. J Clin Endocrinol Metab. 2008 Dec. 93 (12):4672-82. [QxMD MEDLINE Link].
Weng C, Chen J, Sun L, Zhou ZW, Feng X, Sun JH, et al. A de novo mosaic mutation of PHEX in a boy with hypophosphatemic rickets. J Hum Genet. 2015 Nov 12. [QxMD MEDLINE Link].
Bresler D, Bruder J, Mohnike K, et al. Serum MEPE-ASARM-peptides are elevated in X-linked rickets (HYP): implications for phosphaturia and rickets. J Endocrinol. 2004 Dec. 183(3):R1-9. [QxMD MEDLINE Link].
Segawa H, Aranami F, Kaneko I, Tomoe Y, Miyamoto K. The roles of Na/Pi-II transporters in phosphate metabolism. Bone. 2009 Jul. 45 Suppl 1:S2-7. [QxMD MEDLINE Link].
Zheng B, Wang C, Chen Q, et al. Functional Characterization of PHEX Gene Variants in Children With X-Linked Hypophosphatemic Rickets Shows No Evidence of Genotype-Phenotype Correlation. J Bone Miner Res. 2020 Apr 24. [QxMD MEDLINE Link].
Nussbaum RL, McInnes RR, Willard HF. Chapter 7: Patterns of Single-Gene Inheritance. Thompson & Thompson Genetics in Medicine. 8th ed. Philadelphia, Pa: Elsevier; 2016. 121.
Reid IR, Murphy WA, Hardy DC, Teitelbaum SL, Bergfeld MA, Whyte MP. X-linked hypophosphatemia: skeletal mass in adults assessed by histomorphometry, computed tomography, and absorptiometry. Am J Med. 1991 Jan. 90 (1):63-9. [QxMD MEDLINE Link].
Endo I, Fukumoto S, Ozono K, et al. Nationwide survey of fibroblast growth factor 23 (FGF23)-related hypophosphatemic diseases in Japan: prevalence, biochemical data and treatment. Endocr J. 2015. 62 (9):811-6. [QxMD MEDLINE Link]. [Full Text].
Beck-Nielsen SS, Brock-Jacobsen B, Gram J, Brixen K, Jensen TK. Incidence and prevalence of nutritional and hereditary rickets in southern Denmark. Eur J Endocrinol. 2009 Mar. 160 (3):491-7. [QxMD MEDLINE Link].
Rafaelsen S, Johansson S, Raeder H, Bjerknes R. Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications. Eur J Endocrinol. 2016 Feb. 174 (2):125-36. [QxMD MEDLINE Link]. [Full Text].
Baroncelli GI, Zampollo E, Manca M, et al. Pulp chamber features, prevalence of abscesses, disease severity, and PHEX mutation in X-linked hypophosphatemic rickets. J Bone Miner Metab. 2021 Mar. 39 (2):212-23. [QxMD MEDLINE Link].
Chesher D, Oddy M, Darbar U, et al. Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations. J Inherit Metab Dis. 2018 Sep. 41 (5):865-876. [QxMD MEDLINE Link]. [Full Text].
Verge CF, Lam A, Simpson JM, Cowell CT, Howard NJ, Silink M. Effects of therapy in X-linked hypophosphatemic rickets. N Engl J Med. 1991 Dec 26. 325(26):1843-8. [QxMD MEDLINE Link].
Alon US, Monzavi R, Lilien M, et al. Hypertension in hypophosphatemic rickets--role of secondary hyperparathyroidism. Pediatr Nephrol. 2003 Feb. 18(2):155-8. [QxMD MEDLINE Link].
Lempicki M, Rothenbuhler A, Merzoug V, et al. Magnetic Resonance Imaging Features as Surrogate Markers of X-Linked Hypophosphatemic Rickets Activity. Horm Res Paediatr. 2017 Apr 3. 87 (4):244-53. [QxMD MEDLINE Link].
Nielsen LH, Rahbek ET, Beck-Nielsen SS, Christesen HT. Treatment of hypophosphataemic rickets in children remains a challenge. Dan Med J. 2014 Jul. 61(7):A4874. [QxMD MEDLINE Link].
Gizard A, Rothenbuhler A, Pejin Z, et al. Outcomes of orthopedic surgery in a cohort of 49 patients with X-linked hypophosphatemic rickets (XLHR). Endocr Connect. 2017 Nov. 6 (8):566-73. [QxMD MEDLINE Link]. [Full Text].
Zhang X, Imel EA, Ruppe MD, et al. Pharmacokinetics and pharmacodynamics of a human monoclonal anti-FGF23 antibody (KRN23) in the first multiple ascending-dose trial treating adults with X-linked hypophosphatemia. J Clin Pharmacol. 2016 Feb. 56 (2):176-85. [QxMD MEDLINE Link]. [Full Text].
Zhang X, Peyret T, Gosselin NH, Marier JF, Imel EA, Carpenter TO. Population pharmacokinetic and pharmacodynamic analyses from a 4-month intradose escalation and its subsequent 12-month dose titration studies for a human monoclonal anti-FGF23 antibody (KRN23) in adults with X-linked hypophosphatemia. J Clin Pharmacol. 2016 Apr. 56 (4):429-38. [QxMD MEDLINE Link].
Haffner D, Nissel R, Wuhl E, Mehls O. Effects of growth hormone treatment on body proportions and final height among small children with X-linked hypophosphatemic rickets. Pediatrics. 2004 Jun. 113(6):e593-6. [QxMD MEDLINE Link].
Sochett E, Doria AS, Henriques F, et al. Growth and metabolic control during puberty in girls with X-linked hypophosphataemic rickets. Horm Res. 2004. 61(5):252-6. [QxMD MEDLINE Link].
Meyerhoff N, Haffner D, Staude H, et al. Effects of growth hormone treatment on adult height in severely short children with X-linked hypophosphatemic rickets. Pediatr Nephrol. 2018 Mar. 33 (3):447-56. [QxMD MEDLINE Link].
LaRosa CJ. Hypophosphatemic Rickets (Vitamin D–Resistant Rickets). Merck Manual (Consumer Version). Available at http://www.merckmanuals.com/home/children-s-health-issues/congenital-kidney-tubular-disorders/hypophosphatemic-rickets. Accessed: 2016 Dec 16.