1. Yanagawa N, Nakhoul F, Kurokawa K, Lee DBN. Physiology of phosphorus metabolism. In: Narins RG, ed. Clinical Disorders of Fluid and Electrolyte Metabolism, 5th Edition. New York: McGraw Hill, Inc, 1994, 307-371.

2. Lee DBN, Walling MW, Brautbar N. Intestinal phosphate absorption: Influence of vitamin D and non- vitamin D factors. Am J Physiol 250:G369-G373, 1986.

3. Cross HS, Debiec H, Peterlik Ml. Mechanism and regulation of intestinal phosphate absorption. Miner Electrolyte Metab 16:115-124, 1990.

4. Debiec H, Lorenc R. Identification of Na +-Pi-binding protein in kidney and intestinal brush border membranes. Biochem J 225:185-191, 1988.

5. Katai K, Miyamoto K, Kishida S, Segawa H, Nii T, Tankaka H, Tani Y, Arai H, Tatsumi S, Morita K, Taketani Y, Takeda E. Regulation of intestinal Na +-dependent phosphate co-transporters by a low phosphate diet and 1,25-dihydroxyvitamin D3. Biochem J 3:705-712, 1999.

6. Hilfiker H, Hattenhauer O, Traebert M, Forster I, Murer H, Biber J. Characterization of a murine type II sodium-phosphate cotransporter expressed in mammalian small intestine. Proc Natl Acad Sci USA 95:14564-14569, 1998.

7. Bai L, Collins JF, Ghishan FK. Cloning and characterization of a type III Na-dependent phosphate cotransporter from mouse intestine. Am J Physiol Cell Physiol 279:C1135-1143, 2000.

8. Xu H, Bai L, Collins JF, Ghishan FK. Age-dependent regulation of rat intestinal type II sodium-phosphate cotransporter by 1,25-(OH)2 vitamin D3. Am J Physiol Cell Physiol 282:C487-C493, 2002.

9. Rizzoli R, Fleisch H, Bonjour J-P. Role of 1,25-dihydroxyvitamin D3 on intestinal phosphate absorption in rats with a normal vitamin D supply. J Clin Invest 60:639-647, 1977.

10. Karr WC, Abbott WO. Intubation studies of the human small intestine: 4. Chemical characteristics of the intestinal contents in the fasting state and as influenced by the administration of acids, of alkalines and of water. J Clin Invest 14:893-898, 1935.

11. Walton J, Gray TK. Absorption of intestinal phosphate in the human small intestine. Clin Sci 56:407-412, 1979.

12. Wilkinson R. Absorption of calcium, phosphorus and magnesium. In: Nordin BEC, editor. Calcium, Phosphate and Magnesium Metabolism. Edinburgh, Churchill Livingstone, 1976, 36.

13. Mizgala CL, Quamme GA. Renal handling of phosphate. Physiol Rev 65:431-466, 1985.

14. Harris CA, Sutton RA, Dirks JH. Effects of hypercalcemia on tubular calcium and phosphate ultrafilterability and tubular reabsorption in the rat. Am J Physiol 233:F201-206, 1977.

15. Knox FG, Haramati A. Renal regulation of phosphate excretion. In: Seldin DW, Giebisch G, editors. The Kidney: Physiology and Pathophysiology. New York, Raven, 1981, 1381.

16. Morel F. Sites of hormone action in the mammalian nephron. Am J Physiol 240:F159-164, 1981.

17. Berndt TJ, Knox FG. Proximal tubule site of inhibition of phosphate reabsorption by calcitonin. Am J Physiol 246:F927-930, 1984.

18. Murer H, Hernando N, Forster I, Biber J. Proximal tubular phosphate reabsorption: molecular mechanisms. Physiol Rev 80:1373-1409, 2000.

19. Schwab SJ, Klahr S, Hammerman MR. Na +gradient-dependent Pi uptake in basolateral membrane vesicles from dog kidney. Am J Physiol 246:F633-639, 1984.

20. Helps C, Murer H, McGivan J. Cloning, sequence analysis and expression of the cDNA encoding a sodium-dependent phosphate transporter from the bovine renal epithelial cell line NBL-1. Eur J Biochem 228:927-930, 1995.

21. Verri T, Markovich D, Perego C, Norbis F, Stange G, Sorribas V, Biber J, Murer H. Cloning of a rabbit renal Na-Pi cotransporter, which is regulated by dietary phosphate. Am J Physiol 268:F626-F633, 1995.

22. Sorribas V, Markovich D, Hayes G, Stange G, Forgo J, Biber J, Murer H. Cloning of a Na/Pi cotransporter from opossum kidney cells. J Biol Chem 269:6615-6621, 1994.

23. Werner A, Murer H, Kinne RK. Cloning and expression of a renal Na-Pi cotransport system from flounder. Am J Physiol 267:F311-F317, 1994.

24. Magagnin S, Werner A, Markovich D, Sorribas V, Stange G, Biber J, Murer H. Expression cloning of human and rat renal cortex Na/Pi cotransport. Proc Natl Acad Sci USA 90:5979-5983, 1993.

25. Murer H, Forster I, Hernando N, Lambert G, Traebert M, Biber J. Post-transcriptional regulation of the proximal tubule Na +-phosphate transporter type II in response to PTH and dietary phosphate. Am J Physiol Renal Physiol 277:F676-F684, 1999.

26. Murer H, Forster I, Hilfiker H, Pfister M, Kaissling B, Lotscher M, Biber J. Cellular/molecular control of renal Na +/Pi cotransport. Kidney Int 65:S2-S10, 1998.

27. Oberbauer R, Schreiner GF, Biber J, Murer H, Meyer TW. In vivo suppression of the renal Na +/Pi cotransporter by antisense oligonucleotides. Proc Natl Acad Sci USA 93:4903-4906, 1996.

28. Beck I, Karaplis AC, Amizuka N, Hewson AS, Ozawa H, Tenenhouse HS. Targeted inactivation of Npt 2 in mice leads to severe renal phosphate wasting, hypercalciuria and skeletal annomalies. Proc Natl Acad Sci USA 95:5372-5377, 1998.

29. Hoag HH, Gauthier C, Martel I, Tenenhouse HS. Effects of Npt2 gene ablation and low Pi-diet on renal Na +-phosphate cotransport and cotransporter gene expression. J Clin Invest 104:679-686, 1999.

30. Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter, TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H. Mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-llc in maintaining phosphate homeostatis. Am J Hum Gen. 78: 179-92, 2006.

31.Foster IC, Hernando N, Biber J, Murer H. Proximal tubular handling of phosphate: a molecular perspective. Kidney Int. 70: 1548-59, 2006.

32. Shimada T, Mizutani S, Muto T, Yoneya T, Hino R, Takeda S, Takeuchi Y, Fujita T, Fukumoto S, Yamashita T. Cloning and characterization of FGF-23 as a causative factor of tumor-induced osteomalacia. Proc Natl Acad Sci USA 98:6500-6505, 2001.

33. Razzaque MS, Sitara D, Taguchi T, St-Arnaud R, Lanske B. Premature aging-like phenotype in fibroblast growth factor 23 null mice is a vitamin D-mediated process. FASEB J 6: 720-722, 2006..

34. Aono Y, Shimada T, Yamazaki Y, Hino R, Takeuchi Y, Fujita T, Fukumoto S, Nagano N, Wada M, Yamashita T. The neutralization of FGF-23 ameliorates hypophosphatemia and rickets in Hyp mice. J Bone Min Res 18: S16, 2003.

35. Yu X, White KE. Fibroblast growth factor 23 and its receptors. Therapeutic Apheresis & Dialysis 9: 308-312, 2005.

36. Urakawa I, Yamazaki Y, Shimada T, Iijima K, Hasegawa H, Okawa K, Fujita T, Fukumoto S, Yamashita T. Klotho converts canonical FGF receptor into a specific receptor for FGF23. Nature 444:770-774, 2006.

37. Antoniucci DM, Yamashita T, Portale AA. Dietary phosphorus regulates serum fibroblast growth factor-23 concentrations in healthy men. J Clin Endocrinol Metab 91: 3144-3149, 2006.

38. Rowe PS, de Zoysa PA, Dong R, Wang HR, White KE, Econs MH, Oudet CL. MEPE, a new gene expressed in bone marrow and tumors causing osteomalacia. Genomics 67: 54-68, 2000.

39. Berndt T, Craig TA, Howe AE, Vassiliadis J, Reczek D, Finnegan R, Jan de Beur SM, Schiavi SC, Kumar R. Secreted frizzled-related protein 4 is a potent tumor-derived phosphaturic agent. J Clin Invest 112: 785-794. 2003.

40. Wagner GF, Dimattia GE. The stanniocalcin family of proteins. J Exp Zoolog (A Exp Biol) 305:769-780, 2006.

41. Carpenter TO, Ellis BK, Insogna KL, Philbrick WM, Sterpka J, Shimkets R. FGF7 – an inhibitor of phosphate transport derived from oncogenic osteomalacia-causing tumors. J Clin Endocrinol Metab 90:1012–1020, 2005.

42. Sabbagh Y, Carpenter TO, Demay M. Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes. Proc Nat Acad Sci 102: 9637-9642, 2005.

43. Glimcher MJ (1976). In: Handbook of Physiology: Endocrinology, Parathyroid Gland, sect 7, vol. 7 (Aurbach, G.D. ed), pp 21-32, American Physiological Society, Washington, D.C.

44. Bordier PJ and Tun Chot S. Quantitative histology of metabolic bone disease. Clin Endocrinol Metab 1:197-215, 1972.

45. Frame B and Parfitt AM Osteomalacia: current concepts. Ann Intern Med 89:966-982, 1978.

46. Harrison HE, Harrison HC, Lifshitz F, Johnson AD. Growth disturbance in hereditary hypophosphatemia. Am J Dis Child 112:290-297, 1966.

47. Williams TF, Winters RW. Familial (hereditary) vitamin D-resistant rickets with hypophosphatemia. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, eds. The Metabolic Basis of Inherited Disease 3rd ed. New York: McGraw-Hill, 1465-1485, 1983.

48. Tracey WE, Campbell RA. Dentofacial development in children with vitamin D resistant rickets. J Am Dent Assoc 76:1026-1031, 1968.

49. Shields ED, Scriver CR, Reade T, Fujiwara TM, Morgan K, Ciampi A, Schwartz S. X-linked hypophosphatemia: the mutant gene is expressed in teeth as well as in kidney. Am J Human Gen. 46: 434-442. 1990.

50. Polisson RP, Martinex S, Khoury M, Harrell RM, Lyles KW, Friedman N, Harrelson JM, Reisner E, Drezner MK. Calcificantion of entheses associated with X-linked hypophosphatemic osteomalacia. N Engl J Med 313:1-6, 1985.

51. Pierce DS, Wallace WM, Herndon CH. Long term treatment of vitamin D-resistant rickets. J Bone Joint Surg 46-A:979-986, 1964.

52. Marie PJ, Glorieux FH. Relation between hypomineralized periosteocytic lesions and bone mineralization in vitamin D-resistant rickets. Calcif Tissue Int 35:443-448, 1983.

53. Steindijk R. On the pathogenesis of vitamin D resistant rickets and primary vitamin D resistant rickets. Helv Paediatr Acta 17:65-85, 1962.

54. Stickler GB. External calcium and phosphorus balances in vitamin D-resistant rickets. J Pediatr 63:942-948, 1963.

55. Drezner MK, Lyles KW, Haussler MR, Harrelson JM. Evaluation of a role for 1,25-dihydroxyvitamin D3 in the pathogenesis and treatment of X-linked hypophosphatemic rickets and osteomalacia. J Clin Invest 66:1020-1032, 1980.

56. Haddad JG, Chyu KJ, Hahn TJ, Stamp TCB: Serum concentrations of 25-hydroxyvitamin D in sex linked hypophosphatemic vitamin D-resistant rickets. J Lab Clin Med 81:22-27, 1973.

57. Tenenhouse HS. Abnormal renal mitochondrial 25-hydroxyvitamin D3-1-hydroxylase activity in the vitamin D and calcium deficient X-linked Hyp mouse. Endocrinology 113:816-818, 1983.

58. Roy S, Martel J, Ma S, Tenenhouse HS. Increased renal 25-hydroxyvitamin D3-24-hydroxylase messenger ribonucleic acid and immunoreactive protein in phosphate-deprived Hyp mice: a mechanism for accelerated 1,25-dihydroxyvitamin D3 catabolism in X-linked hypophosphatemic rickets. Endocrinology 134:1761-1767, 1994.

59. 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) 37:97-142, 1958.

60. Burnett CH, Dent CE, Harper C, Warland BJ. Vitamin D resistant rickets: analysis of 24 pedigrees and hereditary and sporadic cases. Am J Med 36: 222-232, 1964.

61. Francis F, Henning S, Korn B, Reinhardt R, de Jong P, Poustka A, Lehrach H, Rowe PSN, Goulding JN, Summerfield T, Mountford R, Read AP, Popowska E, Pronicka E, Davies KE, O'Riordan JLH, Econs MJ, Nesbitt T, Drezner MK, Oudet C, Hanauer A, Strom TM, Meindl A, Lorenz B, Cagnoli M, Mohnike KL, Murken J, Meitinger, T. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nat Genet 11:130-136, 1995.

62. Lipman ML, Dibyendu P, Hugh PJ, Bennett JE, Henderson ES, Yingnian S, Goltzman D, Daraplis AC. Cloning of human Pex cDNA: expression subcellular localization and endopeptidase activity. J Biol Chem 273:13729-13737, 1998.

63. Thompson DL, Roche PC, Drezner MK, Salisbury JL, Sabbagh Y, Tenenhouse HS, Grande JP, Poeschlia EM, Kumar R.: Ontogeny of PHEX/PEX expression in the mouse embryo and studies on the subcellular localization of PHEX/PEX in osteoblasts. J Bone Miner Res 17:311-320, 2002.

64. Beck L, Soumounou Y, Martel J, Krishnamurthy G, Gauthier C, Goodyer CG, Tenenhouse HS. Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice. J Clin Invest 99:1200-1209, 1997.

65. Zoidis E, Zapf J, Schmid C. Phex cDNA cloning from rat bone and studies on phex mRNA expression: tissue-specificity, age-dependency, and regulation by insulin-like growth factor (IGF) I in vivo. Mol Cell Endocrinol 168:41-51, 2000.

66. Ruchon AF, Tenenhouse HS, Marcinkiewicz M, Siegfried G, Aubin JE, DesGroseillers L, Crine P, Boileau G. Developmental expression and tissue distribution of Phex protein: effect of the Hyp mutation and relationship to bone markers. J Bone Miner Res 15:1440-1450, 2000.

67. Ruchon AF, Marcinkiewicz M, Siegfried G, Tenenhouse HS, DesGroseillers L, Crine P, Boileau G. Pex mRNA is localized in developing mouse osteoblasts and odontoblasts. J Histochem Cytochem. 46:459-468, 1998.

68. Rowe PSN, Goulding JN, Econs, MJ, Francis F, Leharach H, Reead A, Moutiford J, Oudet C, Hanauer A, Summerfield T, Meitinger T, Strom A, Drezner MK, Davies KE, O'Riordan JLH. The gene for X-linked hypophosphatemic rickets maps to a 200-300 kb region in Xp22.1-Xp22.2 and is located on a single YAC containing a putative vitamin D response element (VDRE). Human Gen 97: 345-352, 1996.

69. Rowe PS, Oudet CL, Francis F, Sinding C, Pannetier S, Econs MJ, Strom TM, Meitinger T, Garabedian M, David A, Macher MA, Questiaux E, Popowska E, Pronicka E, Read AP, Mokrzycki A, Glorieux FH, Drezner MK, Hanauer A, Lehrach H, Goulding JN, O'Riordan JL. Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). Human Mol Gen 6:539-549, 1997.

70. Francis F, Strom TM, Hennig S, Böddrich A, Lorenz B, Brandau O, Mohnike KL, Cagnoli M, Steffens C, Klages S, Borzym K, Pohl T, Oudet C, Econs MJ, Rowe PSN, Reinhardt R, Meitinger T, Lehrach H. Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets. Genome Res 7: 573-585, 1997.

71. Holm IA, Nelson AE, Robinson BG, Mason RS, Marsh DJ, Cowell CT, Carpenter TO. Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 86:3889-3899, 2001.

72. Dixon PH, Christie PT, Wooding C, Trump D, Grieff M, Holm I, Gertner JM, Schmidtke J, Shah B, Shaw N, Smith C, Tau C, Schlessinger D, Whyte MP, Thakker RV. Mutational analysis of PHEX gen in X-linked hypophosphatemia. J Clin Endocrinol Metab 83:3615-3623, 1998.

73. Filisetti D, Ostermann G, von Bredow M, Strom T, Filler G, Ehrich J, Pannetier S, Garnier JM, Rowe P, Francis F, Julienne A, Hanauer A, Econs MJ, Oudet C. Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues. Eur J Hum Genet 7:615-619, 1999.

74. Tyynismaa H, Kaitila I, Nanto-Salonen K, Ala-Houhala M, Alitalo T. Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. Hum Mutat 15:383-384, 2000.

75. Sabbagh Y, Boileau G, DesGroseillers, Tenenhouse HS. Turnover and rescue of mutant PHEX proteins sequestered in the endoplasmic reticulum. J Bone Miner Res 16 (Suppl 1): S227, 2001.

76. Christie PT, Harding B, Nesbit MA, Whyte MP, Thakker RV. X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene. J Clin Endocrinol Metab 86:3840-3844, 2001.

77. Liu S, Guo R, Tu Q, Quarles LD. Overexpression of Phex in osteoblasts fails to rescue the hyp-mouse phenotype. J Biol Chem 277: 3686-3697, 2002.

78. Bai X, Miao D, Panda D, Grady S, McKee MD, Goltzman D, Karaplis AC.Partial rescue of the Hyp phenotype by osteoblast-targeted PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome) expression. Mol Endocrinol 16: 2913-25, 2002.

79. Boskey A, Frank A, Fujimoto Y, Spevak L, Ellis B, Philbrick W, Carpenter TO. PHEX transgene rescues mineralization defect in hypophosphatemic mouse bones. International Bone and Mineral Society, Montreal, June 2007.

80. Tenenhouse HS, Beck L. Renal Na +-P cotransporter gene expression in X-linked Hyp and Gy mice. Kidney Int 49:1027-32, 1996

81. Tenenhouse HS, Martel J, Biber J, Murer H. Effect of P(i) restriction on renal Na(+)-P(i) cotransporter mRNA and immunoreactive protein in X-linked Hyp mice. Am J Physiol 268: F1062-1069,1995.

82. Nesbitt T, Coffman TM, Griffiths R, Drezner MK. Crosstransplantation of kidneys in normal and hyp-mice: evidence that the hyp-mouse phenotype is unrelated to an intrinsic renal defect. J Clin Invest 89:1453-1459, 1992.

83. Meyer RA Jr, Meyer MH, Gray RW.Parabiosis suggests a humoral factor is involved in X-linked hypophosphatemia in mice. J Bone Miner Res 4:493-500, 1989.

84. The ADHR Consortium. Autosomal dominant hypophosphatemic rickets is associated with mutations in FGF-23. Nat Genet 26:345-348, 2000.

85. White KE, Jonsson KB, Carn G, Hampson G, Spector TD, Mannstadt M, Lorenz-Depiereux B, Miyauchi A, Yang IM, Ljunggren O, Meitinger T, Strom TM, Juppner H, Econs MJ. The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause P wasting. J Clin Endocrinol Metab 86:497-500, 2001.

86. Feng JQ, Ward LM, Liu S, Lu Y, Xie Y, Yuan B, Yu X, Rauch F, Davis SI, Zhang S, Rios H, Drezner MK, Quarles LD, Bonewald LF, White Ke. Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. Nat Genet 38: 1310-1315, 2006.

87. Jan de Beur SM. Tumor-Induced Osteomalacia. Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, Sixth Edition: 345-353, 2006.

88. Topaz O, Shurman DL, Bergman R, Indelman M, Ratajczak P, Mizrachi M, Khamaysi Z, Behar D, Petronius D, Friedman V, Zelikovic I, Raimer S, Metzker A, Richard G, Sprecher E.Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat Genet 36:579-81, 2004.

89. Larsson T, Yu X, Davis SI, Draman MS, Mooney SD, Cullen MJ, White KE. A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis J Clin Endocrinol Metab 90: 2424 – 2427, 2005.

90. Garringer HJ, Fisher C, Larsson TE, Davis SI, Koller DL, Cullen MJ, Draman MS, Conlon N, Jain A, Fedarko NS, Dasgupta B, White KE. The role of mutant UDP-N-Acetyl- -D-Galactosamine-Polypeptide N-Acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis J Clin Endocrinol Metab 91: 4037 – 4042, 2006.

91. Yoskida T, Fujimori T, Nabeshima Y. Mediation of unusually high concentrations of 1,25-dihydroxyvitamin D in homozygous klotho mutant mice by increased expression of renal 1 -hydroxylase gene. Endocrinology 143: 683 – 689, 2002.

92. Kuro-o M, Matsumura Y, Aizawa H, Kawaguchi H, Suga T, Utsugi T, Ohyama Y, Kurabayashi M, Kaname T, Kume E, Iwasaki H, Iida A, Shiraki-Iida T, Nishikawa S, Nagai R, Nabeshima YI. Mutation of the mouse klotho gene leads to a syndrome resembling ageing. Nature 390:45–51, 1997.

93. Glorieux FH, Marie PJ, Pettifor JM, Delvin EE. Bone response to phosphate salts, ergocalciferol, and calcitriol in hypophosphatemic vitamin D-resistant rickets. N Engl J Med 303:1223-1231, 1980.

94. Costa T, Marie P, Scriver CR, Cole DEC, Reade TM, Norgrady B, Glorieux FH, Delvin EE. X-linked hypophosphatemia: effect of calcitriol on renal handling of phosphate, serum phosphate and bone mineralization. J Clin Endocrinol Metab 52:463-477, 1981.

95. Harrell RM, Lyles KW, Harrelson JM, Freedman NE, Drezner MK. Healing of bone disease in X-linked hypophosphatemic rickets/osteomalacia: Induction and maintenance with phosphorus and calcitriol. J Clin Invest 75:1858-1864, 1985.

96. Baroncelli GI, Bertelloni S, Ceccarelli C, Saggese G. Effect of growth hormone treatment on final height, phosphate metabolism, and bone mineral densiety in children with X-linked hypophosphatemic rickets. J Pediatr. 138: 236-243, 2001.

97. Sullivan W, Carpenter TO, Glorieux F, Travers R, Insogna K. A prospective trial of phosphate and 1,25-dihydroxyvitamin D3 therapy on symptomatic adults with X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 75:879-885, 1992.

98. Harrison HE, Harrison HC. Rickets and osteomalacia. Disorders of calcium and phosphate metabolism in childhood and adolescence. Philadelphia: WB Saunders, 1979, 141-256

99. Econs M, McEnery P. Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate wasting disorder. J Clin Endocrinol Metab 82:674-681, 1997.

100. Lorenz-Depiereux B, Bastepe M, Benet-Pages A, Amyere M, Wagenstaller J, Muller-Barth U, Badenhoop K, Kaiser SM, Rittmaster RS, Shlossberg AH, Olivares JL, Loris C, Ramos FJ, Glorieux F, Vikkula M, Juppner H, Strom TM.DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat Genet 38:1248-1250, 2006.

101. Bowe AE, Finnegan R, Jan de Beur SM, Cho J, Levine MA, Kumar R, Schiavi SC. FGF-23 inhibits renal tubular P transport and is a PHEX substrate. Biochem Biophys Res Commun 284: 977-981, 2001.

102. Jan De Beur SM, Finnegan RB, Vassiliadis J, Cook B, Barberio D, Estes S, Manavalan P, Petroziello J, Madden SL, Cho JY, Kumar R, Levine MA, Schiavi SC.Tumors associated with oncogenic osteomalacia express genes important in bone and mineral metabolism. J Bone Miner Res 17:1102-1110, 2002.

103. Scheinman SJ, Pook MA, Wooding C, Pang JT, Frymoyer PA, Thakker RV. Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies. J Clin Invest 91:2351-2357, 1997.

104. Scheinman SJ. X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. Kidney Int 53:3-17, 1998.

105. Tieder M, Modai D, Samuel R, et al. Hereditary hypophosphatemic rickets with hypercalciuria. N Engl J Med 312:611-617, 1985.

106. Tieder M, Modai D, Shaked U, et al. "Idiopathic" hypercalciuria and hereditary hypophosphatemic rickets: two phenotypical expressions of a common genetic defect. N Engl J Med 316:125-129, 1987.

107. Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM. Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am J Hum Genet 78:193-201, 2006.