1. Yanagawa N, Nakhoul F, Kurokawa K, Lee DBN 1994 Physiology of phosphorus metabolism. In: Narins RG, ed. Clinical Disorders of Fluid and Electrolyte Metabolism. 5th ed. New York: McGraw Hill, Inc; 307-371
  2. Lee DBN, Walling MW, Brautbar N 1986 Intestinal phosphate absorption: Influence of vitamin D and non-vitamin D factors. Am J Physiol 250:G369-G373
  3. Cross HS, Debiec H, Peterlik M  1990 Mechanism and regulation of intestinal phosphate absorption. Miner Electrolyte Metab 16:115-124
  4. Sabbagh Y, O�Brien SP, Song W, Boulanger JH, Stockmann A, Arbeeny C, Schiavi SC 2009 Intestinal npt2b plays a major role in phosphate absorption and homeostasis. J Am Soc Nephrol 20:2348�2358
  5. Debiec H, Lorenc R 1988 Identification of Na+,Pi-binding protein in kidney and intestinal brush-border membranes. Biochem J 225:185-191
  6. Katai K, Miyamoto K, Kishida S, Segawa H, Nii T, Tankaka H, Tani Y, Arai H, Tatsumi S, Morita K, Taketani Y, Takeda E 1999 Regulation of intestinal Na+-dependent phosphate co-transporters by a low phosphate diet and 1,25-dihydroxyvitamin D3. Biochem J 3:705-712
  7. Hilfiker H, Hattenhauer O, Traebert M, Forster I, Murer H, Biber J 1998 Characterization of a murine type II sodium-phosphate cotransporter expressed in mammalian small intestine. Proc Natl Acad Sci USA 95:14564-14569
  8. Bai L, Collins JF, Ghishan FK 2000 Cloning and characterization of a type III Na-dependent phosphate cotransporter from mouse intestine. Am J Physiol Cell Physiol 279:C1135-C1143
  9. Xu H, Bai L, Collins JF, Ghishan FK 2002 Age-dependent regulation of rat intestinal type IIb sodium-phosphate cotransporter by 1,25-(OH)2 vitamin D3. Am J Physiol Cell Physiol 282:C487-C493
  10. Marks J, Debnam ES, Unwin RJ 2009 Phosphate homeostasis and the renal-gastrointestinal axis. Am J Physiol Renal Physiol  299:F285-F296
  11. Mizgala CL, Quamme GA 1985 Renal handling of phosphate. Physiol Rev 65:431-466
  12. Harris CA, Sutton RA, Dirks JH 1977 Effects of hypercalcemia on tubular calcium and phosphate ultrafilterability and tubular reabsorption in the rat. Am J Physiol 233:F201-F206
  13. Knox FG, Haramati A 1981 Renal regulation of phosphate excretion. In: Seldin DW, Giebisch G, eds. The Kidney: Physiology and Pathophysiology. New York: Raven Press; 1381
  14. Berndt TJ, Knox FG 1984 Proximal tubule site of inhibition of phosphate reabsorption by calcitonin. Am J Physiol 246:F927-F930
  15. Schwab SJ, Klahr S, Hammerman MR 1984 Na+ gradient-dependent Pi uptake in basolateral membrane vesicles from dog kidney. Am J Physiol 246:F633-F639
  16. Villa-Bellosta R, Ravera S, Sorribas V, Stange G, Levi M, Murer H, Biber J, Forster IC 2009 The Na+-Pi cotransporter PiT-2 (SLC20A2) is expressed in the apical membrane of rat renal proximal tubules and regulated by dietary Pi. Am J Physiol Renal Physiol 296(4):F691-F699
  17. Murer H, Forster I, Hernando N, Lambert G, Traebert M, Biber J 1999 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
  18. Murer H, Forster I, Hilfiker H, Pfister M, Kaissling B, Lotscher M, Biber J 1998 Cellular/molecular control of renal Na+/Pi cotransport. Kidney Int 65:S2-S10
  19. Bacconi A, Virkki LV, Biber J, Murer H, Forster IC 2005 Renouncing electroneutrality is not free of charge: switching on electrogenicity in a Na+-coupled phosphate cotransporter. Proc Natl Acad Sci USA 102(35):12606-12611
  20. Oberbauer R, Schreiner GF, Biber J, Murer H, Meyer TW 1996 In vivo suppression of the renal Na+/Pi cotransporter by antisense oligonucleotides. Proc Natl Acad Sci USA 93:4903-4906
  21. Beck I, Karaplis AC, Amizuka N, Hewson AS, Ozawa H, Tenenhouse HS 1998 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
  22. Hoag HH, Gauthier C, Martel I, Tenenhouse HS 1999 Effects of Npt2 gene ablation and low Pi-diet on renal Na+-phosphate cotransport and cotransporter gene expression. J Clin Invest 104:679-686
  23. 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 KN, Tenenhouse HS, J�ppner H 2006 SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. Am J Hum Gen 78: 179-192
  24. L�tscher M, Scarpetta Y, Levi M, Halaihel N, Wang H, Zajicek HK, Biber J, Murer H, Kaissling B 1999 Rapid downregulation of rat renal Na/P(i) cotransporter in response to parathyroid hormone involves microtubule rearrangement. J Clin Invest 104(4):483-494
  25. Foster IC, Hernando N, Biber J, Murer H 2006 Proximal tubular handling of phosphate: a molecular perspective. Kidney Int 70:1548-1559
  26. Farrow EG, White KE 2010 Recent advances in renal phosphate handling. Nat Rev Nephrol 6(4):207-217
  27. Antoniucci DM, Yamashita T, Portale AA 2006 Dietary phosphorus regulates serum fibroblast growth factor-23 concentrations in healthy men. J Clin Endocrinol Metab 91:3144-3149
  28. Urakawa I, Yamazaki Y, Shimada T, Iijima K, Hasegawa H, Okawa K, Fujita T, Fukumoto S, Yamashita T 2006 Klotho converts canonical FGF receptor into a specific receptor for FGF23. Nature 444:770-774
  29. Shimada T, Mizutani S, Muto T, Yoneya T, Hino R, Takeda S, Takeuchi Y, Fujita T, Fukumoto S, Yamashita T 2001 Cloning and characterization of FGF-23 as a causative factor of tumor-induced osteomalacia. Proc Natl Acad Sci USA 98:6500-6505
  30. Razzaque MS, Sitara D, Taguchi T, St-Arnaud R, Lanske B 2006 Premature aging-like phenotype in fibroblast growth factor 23 null mice is a vitamin D-mediated process. FASEB J 6:720-722
  31. Aono Y, Shimada T, Yamazaki Y, Hino R, Takeuchi Y, Fujita T, Fukumoto S, Nagano N, Wada M, Yamashita T 2003 The neutralization of FGF-23 ameliorates hypophosphatemia and rickets in Hyp mice. J Bone Min Res 18: S16
  32. Hu MC, Shi M, Zhang J, Pastor J, Nakatani T, Lanske B, Shawkat Razzaque M, Rosenblatt KP, Baum MG, Kuro-O M, Moe OW 2010 Klotho: a novel phosphaturic substance acting as an autocrine enzyme in the renal proximal tubule. FASEB J 24(9):3438-3450
  33. Brownstein CA, Adler F, Nelson-Williams C, Iijma J, Imura A, Nabehsima Y, Carpenter TO, Lifton RP 2008 A translocation causing increased α�Klotho level results in hypophosphatemic rickets and hyperparathyroidism. PNAS USA, 105:3455-3460
  34. Rowe PS, de Zoysa PA, Dong R, Wang HR, White KE, Econs MH, Oudet CL 2000 MEPE, a new gene expressed in bone marrow and tumors causing osteomalacia. Genomics 67:54-68
  35. Berndt T, Craig TA, Howe AE, Vassiliadis J, Reczek D, Finnegan R, Jan de Beur SM, Schiavi SC, Kumar R 2003 Secreted frizzled-related protein 4 is a potent tumor-derived phosphaturic agent. J Clin Invest 112:785-794
  36. Wagner GF, Dimattia GE 2006 The stanniocalcin family of proteins. J Exp Zoolog, A Comp Exp Biol 305:769-780
  37. Carpenter TO, Ellis BK, Insogna KL, Philbrick WM, Sterpka J, Shimkets R 2005 FGF7: an inhibitor of phosphate transport derived from oncogenic osteomalacia-causing tumors. J Clin Endocrinol Metab 90:1012-1020
  38. Sabbagh Y, Carpenter TO, Demay M 2005 Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes. Proc Nat Acad Sci 102: 9637-9642
  39. Glimcher MJ 1976 In: Aurbach GD ed. Handbook of Physiology: Endocrinology, Parathyroid Gland, sect 7, vol 7. Washington, D.C.: American Physiological Society; 21-32
  40. Bordier PJ, Tun Chot S 1972 Quantitative histology of metabolic bone disease. Clin Endocrinol Metab 1:197-215
  41. Frame B, Parfitt AM 1978 Osteomalacia: current concepts. Ann Intern Med 89:966-982
  42. Harrison HE, Harrison HC, Lifshitz F, Johnson AD 1966 Growth disturbance in hereditary hypophosphatemia. Am J Dis Child 112:290-297
  43. Williams TF, Winters RW 1983 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
  44. Tracey WE, Campbell RA 1968 Dentofacial development in children with vitamin D resistant rickets. J Am Dent Assoc 76:1026-1031
  45. Shields ED, Scriver CR, Reade T, Fujiwara TM, Morgan K, Ciampi A, Schwartz S 1990 X-linked hypophosphatemia: the mutant gene is expressed in teeth as well as in kidney. Am J Human Gen. 46:434-442
  46. Marie PJ, Glorieux FH 1983 Relation between hypomineralized periosteocytic lesions and bone mineralization in vitamin D-resistant rickets. Calcif Tissue Int 35:443-448
  47. Polisson RP, Martinex S, Khoury M, Harrell RM, Lyles KW, Friedman N, Harrelson JM, Reisner E, Drezner MK 1985 Calcificantion of entheses associated with X-linked hypophosphatemic osteomalacia. N Engl J Med 313:1-6
  48. Pierce DS, Wallace WM, Herndon CH 1964 Long term treatment of vitamin D-resistant rickets. J Bone Joint Surg Am 46:978-997
  49. Steindijk R 1962 On the pathogenesis of vitamin D resistant rickets and primary vitamin D resistant rickets. Helv Paediatr Acta 17:65-85
  50. Stickler GB External calcium and phosphorus balances in vitamin D-resistant rickets. J Pediatr 63:942-948
  51. Drezner MK, Lyles KW, Haussler MR, Harrelson JM 1980 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
  52. Haddad JG, Chyu KJ, Hahn TJ, Stamp TCB 1973 Serum concentrations of 25-hydroxyvitamin D in sex linked hypophosphatemic vitamin D-resistant rickets. J Lab Clin Med 81:22-27
  53. Tenenhouse HS 1983 Abnormal renal mitochondrial 25-hydroxyvitamin D3-1-hydroxylase activity in the vitamin D and calcium deficient X-linked Hyp mouse. Endocrinology 113:816-818
  54. Roy S, Martel J, Ma S, Tenenhouse HS. 1994 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
  55. Winters RW, Graham JB, Williams TF, McFalls VW, Burnett CH 1958 A genetic study of familial hypophosphatemia and vitamin D-resistant rickets with a review of the literature. Medicine (Baltimore) 37:97-142
  56. 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
  57. 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 1995 A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nat Genet 11:130-136
  58. Lipman ML, Dibyendu P, Hugh PJ, Bennett JE, Henderson ES, Yingnian S, Goltzman D, Daraplis AC 1998 Cloning of human Pex cDNA: expression subcellular localization and endopeptidase activity. J Biol Chem 273:13729-13737
  59. Thompson DL, Roche PC, Drezner MK, Salisbury JL, Sabbagh Y, Tenenhouse HS, Grande JP, Poeschlia EM, Kumar R 2002 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
  60. Beck L, Soumounou Y, Martel J, Krishnamurthy G, Gauthier C, Goodyer CG, Tenenhouse HS 1997 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
  61. Zoidis E, Zapf J, Schmid C 2000 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
  62. Ruchon AF, Tenenhouse HS, Marcinkiewicz M, Siegfried G, Aubin JE, DesGroseillers L, Crine P, Boileau G 2000 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
  63. Ruchon AF, Marcinkiewicz M, Siegfried G, Tenenhouse HS, DesGroseillers L, Crine P, Boileau G 1998 Pex mRNA is localized in developing mouse osteoblasts and odontoblasts. J Histochem Cytochem. 46:459-468
  64. 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 1996 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
  65. 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 1997 Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). Human Mol Gen 6:539-549
  66. Francis F, Strom TM, Hennig S, B�ddrich 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 1997 Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets. Genome Res 7:573-585
  67. Holm IA, Nelson AE, Robinson BG, Mason RS, Marsh DJ, Cowell CT, Carpenter TO 2001 Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 86:3889-3899
  68. 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 1998 Mutational analysis of PHEX gene in X-linked hypophosphatemia. J Clin Endocrinol Metab 83:3615-3623
  69. 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 1999 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
  70. Tyynismaa H, Kaitila I, Nanto-Salonen K, Ala-Houhala M, Alitalo T 2000 Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. Hum Mutat 15:383-384
  71. Sabbagh Y, Boileau G, DesGroseillers, Tenenhouse HS 2001 Turnover and rescue of mutant PHEX proteins sequestered in the endoplasmic reticulum. J Bone Miner Res 16 (Suppl 1): S227
  72. Christie PT, Harding B, Nesbit MA, Whyte MP, Thakker RV 2001 X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene. J Clin Endocrinol Metab 86:3840-3844
  73. Liu S, Guo R, Tu Q, Quarles LD 2002 Overexpression of Phex in osteoblasts fails to rescue the hyp-mouse phenotype. J Biol Chem 277:3686-3697
  74. Bai X, Miao D, Panda D, Grady S, McKee MD, Goltzman D, Karaplis AC 2002 Partial rescue of the Hyp phenotype by osteoblast-targeted PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome) expression. Mol Endocrinol 16:2913-2925
  75. Boskey A, Frank A, Fujimoto Y, Spevak L, Ellis B, Philbrick W, Carpenter TO 2007 PHEX transgene rescues mineralization defect in hypophosphatemic mouse bones. Annual Meeting of The International Bone and Mineral Society, Montreal, June 2007.
  76. Boskey A, Frank A, Fujimoto Y, Spevak L, Verdelis K, Ellis B, Philbrick W, Carpenter T 2009 The PHEX transgene corrects mineralization defects in 9-month-old hypophosphatemic mice. Calcif Tiss Int 84:126-137
  77. Tenenhouse HS, Beck L 1996 Renal Na+-P cotransporter gene expression in X-linked Hyp and Gy mice. Kidney Int 49:1027-1032
  78. Tenenhouse HS, Martel J, Biber J, Murer H 1995 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-F1069
  79. Tenenhouse HS, Martel J, Gauthier C, Segawa H, Miyamoto K 2003 Differential effects of Npt2a gene ablation and X-linked Hyp mutation on renal expression of Npt2c. Am J Physiol Renal Physiol 285(6):F1271-F1278
  80. Meyer RA Jr, Meyer MH, Gray RW 1989 Parabiosis suggests a humoral factor is involved in X-linked hypophosphatemia in mice. J Bone Miner Res 4:493-500
  81. Nesbitt T, Coffman TM, Griffiths R, Drezner MK 1992 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
  82. 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, J�ppner H, Econs MJ 2001 The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting. J Clin Endocrinol Metab 86:497-500
  83. The ADHR Consortium 2000 Autosomal dominant hypophosphatemic rickets is associated with mutations in FGF-23. Nat Genet 26:345-348
  84. 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 2006 Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. Nat Genet 38:1310-1315
  85. Yoskida T, Fujimori T, Nabeshima Y 2002 Mediation of unusually high concentrations of 1,25-dihydroxyvitamin D in homozygous klotho mutant mice by increased expression of renal 1{alpha}-hydroxylase gene. Endocrinology 143:683-689
  86. Brownstein C, Zhang J, Stillman A, Ellis B, Troiano N, Adams DJ, Gundberg CM, Lifton RP, Carpenter TO 2010 Increased bone volume and correction of HYP mouse hypophosphatemia in the Klotho/HYP mouse. Endocrinology 151: 492-501
  87. Jan de Beur SM 2006 Tumor-induced osteomalacia. In: Favus MJ ed. Primer on the metabolic bone diseases and disorders of mineral metabolism. 6th ed. Washington DC: American Society for Bone and Mineral Research; 345-353
  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 2004 Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat Genet 36:579-81
  89. Larsson T, Yu X, Davis SI, Draman MS, Mooney SD, Cullen MJ, White KE 2005 A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis J Clin Endocrinol Metab 90:2424-2427
  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 2006 The role of mutant UDP-N-Acetyl-{alpha}-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
  91. Ichikawa S, Sorenson AH, Austin AM, Mackenzie DS, Fritz TA, Moh A, Hui SL, Econs MJ 2009 Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression. Endocrinology 150(6):2543-2550
  92. Ichikawa S, Imel EA, Kreiter ML, Yu X, Mackenzie DS, Sorenson AH, Goetz R, Mohammadi M, White KE, Econs MJ 2007 A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. J Clin Invest 117(9):2684-2691
  93. 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 1997 Mutation of the mouse klotho gene leads to a syndrome resembling ageing. Nature 390:45-51
  94. Glorieux FH, Marie PJ, Pettifor JM, Delvin EE 1980 Bone response to phosphate salts, ergocalciferol, and calcitriol in hypophosphatemic vitamin D-resistant rickets. N Engl J Med 303:1223-1231
  95. Costa T, Marie P, Scriver CR, Cole DEC, Reade TM, Norgrady B, Glorieux FH, Delvin EE 1981 X-linked hypophosphatemia: effect of calcitriol on renal handling of phosphate, serum phosphate and bone mineralization. J Clin Endocrinol Metab 52:463-477
  96. Harrell RM, Lyles KW, Harrelson JM, Freedman NE, Drezner MK 1985 Healing of bone disease in X-linked hypophosphatemic rickets/osteomalacia: induction and maintenance with phosphorus and calcitriol. J Clin Invest 75:1858-1864
  97. Baroncelli GI, Bertelloni S, Ceccarelli C, Saggese G 2001 Effect of growth hormone treatment on final height, phosphate metabolism, and bone mineral density in children with X-linked hypophosphatemic rickets. J Pediatr 138:236-243
  98. Haffner D, Wuhl E, Blum WF, Schaefer F, Mehls O1995 Disproportionate growth following long-term growth hormone treatment in short children with X-linked hypophosphataemia. Eur J Pediatr 154:610-613
  99. Sullivan W, Carpenter TO, Glorieux F, Travers R, Insogna K 1992 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
  100. Harrison HE, Harrison HC 1979 Rickets and osteomalacia. In: Disorders of calcium and phosphate metabolism in childhood and adolescence. Philadelphia: WB Saunders; 141-256
  101. Econs M, McEnery P 1997 Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate wasting disorder. J Clin Endocrinol Metab 82:674-681
  102. Imel EA, Hui SL, Econs MJ 2007 FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets. J Bone Miner Res 22(4):520-526
  103. 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, J�ppner H, Strom TM 2006 DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat Genet 38:1248-1250
  104. Rutsch F, Ruf N, Vaingankar S, Toliat MR, Suk A, H�hne W, Schauer G, Lehmann M, Roscioli T, Schnabel D, Epplen JT, Knisely A, Superti-Furga A, McGill J, Filippone M, Sinaiko AR, Vallance H, Hinrichs B, Smith W, Ferre M, Terkeltaub R, N�rnberg P 2003 Mutations in ENPP1 are associated with �idiopathic� infantile arterial calcification. Nat Genet 34(4):379-381
  105. Rutsch F, B�yer P, Nitschke Y, Ruf N, Lorenz-Depierieux B, Wittkampf T, Weissen-Plenz G, Fischer RJ, Mughal Z, Gregory JW, Davies JH, Loirat C, Strom TM, Schnabel D, N�rnberg P, Terkeltaub R; GACI Study Group 2008 Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. Circ Cardiovasc Genet 1(2):133-140
  106. Bowe AE, Finnegan R, Jan de Beur SM, Cho J, Levine MA, Kumar R, Schiavi SC 2001 FGF-23 inhibits renal tubular P transport and is a PHEX substrate. Biochem Biophys Res Commun 284:977-981
  107. White KE, Cabral JM, Davis SI, Fishburn T, Evans WE, Ichikawa S, Fields J, Yu X, Shaw NJ, McLellan NJ, McKeown C, Fitzpatrick D, Yu K, Ornitz DM, Econs MJ 2005 Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. Am J Hum Genet 76(2):361-367
  108. Brown WW, J�ppner H, Langman CB, Price H, Farrow EG, White KE, McCormick KL 2009 Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen�s metaphyseal chondrodysplasia. J Clin Endocrinol Metab 94(1):17-20
  109. 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 2002 Tumors associated with oncogenic osteomalacia express genes important in bone and mineral metabolism. J Bone Miner Res 17:1102-1110
  110. Xiao L, Naganawa T, Lorenzo J, Carpenter TO, CoffinJD, Hurley MM 2010 Nuclear  isoforms of fibroblast growth factor 2 are novel  inducers of hypophosphatemia via modulation of FGF23 and Klotho. J Biol Chem 285:2843-2846
  111. Scheinman SJ, Pook MA, Wooding C, Pang JT, Frymoyer PA, Thakker RV 1997 Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies. J Clin Invest 91:2351-2357
  112. Scheinman SJ 1998 X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. Kidney Int 53:3-17
  113. Tieder M, Modai D, Samuel R, et al 1985 Hereditary hypophosphatemic rickets with hypercalciuria. N Engl J Med 312:611-617
  114. Tieder M, Modai D, Shaked U, et al 1987 �Idiopathic� hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect. N Engl J Med 316:125-129
  115. 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 2006 Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am J Hum Genet 78:193-201
  116. Jaureguiberry G, Carpenter TO, Forman S, J�ppner H, Bergwitz C. A novel missense mutation in SLC34A3 that causes HHRH identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc. Am J Physiol Renal Physiol 295: F371-F379