메뉴 건너뛰기




Volumn , Issue , 2012, Pages 699-726

Familial Hypophosphatemia and Related Disorders

Author keywords

[No Author keywords available]

Indexed keywords


EID: 84882810295     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-382040-2.10026-7     Document Type: Chapter
Times cited : (10)

References (260)
  • 1
    • 0002701258 scopus 로고    scopus 로고
    • Mendelian hypophosphatemias
    • McGraw-Hill, New York, C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.)
    • Tenenhouse H.S., Econs M.J. Mendelian hypophosphatemias. The Metabolic and Molecular Basis of Inherited Disease 2001, 5039-5068. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
    • (2001) The Metabolic and Molecular Basis of Inherited Disease , pp. 5039-5068
    • Tenenhouse, H.S.1    Econs, M.J.2
  • 2
    • 33947111420 scopus 로고    scopus 로고
    • Phosphate transport: molecular basis, regulation and pathophysiology
    • Tenenhouse H.S. Phosphate transport: molecular basis, regulation and pathophysiology. J Steroid Biochem Mol Biol 2007, 103:572-577.
    • (2007) J Steroid Biochem Mol Biol , vol.103 , pp. 572-577
    • Tenenhouse, H.S.1
  • 3
    • 42549107409 scopus 로고    scopus 로고
    • Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation
    • Bastepe M., Jüppner H. Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation. Rev Endocr Metab Disord 2008, 9:171-180.
    • (2008) Rev Endocr Metab Disord , vol.9 , pp. 171-180
    • Bastepe, M.1    Jüppner, H.2
  • 4
    • 77953950024 scopus 로고    scopus 로고
    • Genetic disorders of renal phosphate transport
    • Prié D., Friedlander G. Genetic disorders of renal phosphate transport. N Engl J Med 2010, 362:2399-2409.
    • (2010) N Engl J Med , vol.362 , pp. 2399-2409
    • Prié, D.1    Friedlander, G.2
  • 6
    • 0037015060 scopus 로고    scopus 로고
    • PDZ domain interactions and apical expression of type IIa Na/P(i) cotransporters
    • Hernando N., Deliot N., Gisler S.M., et al. PDZ domain interactions and apical expression of type IIa Na/P(i) cotransporters. Proc Natl Acad Sci USA 2002, 99:11957-11962.
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 11957-11962
    • Hernando, N.1    Deliot, N.2    Gisler, S.M.3
  • 7
    • 0000136613 scopus 로고
    • Mendelian hypophosphatemias
    • McGraw-Hill, New York, C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.)
    • Rasmussen H., Tenenhouse H.S. Mendelian hypophosphatemias. The Metabolic and Molecular Basis of Inherited Disease 1995, 3717-3745. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
    • (1995) The Metabolic and Molecular Basis of Inherited Disease , pp. 3717-3745
    • Rasmussen, H.1    Tenenhouse, H.S.2
  • 8
    • 0031037590 scopus 로고    scopus 로고
    • Cellular and molecular mechanisms of renal phosphate transport
    • Tenenhouse H.S. Cellular and molecular mechanisms of renal phosphate transport. J Bone Miner Res 1997, 12:159-164.
    • (1997) J Bone Miner Res , vol.12 , pp. 159-164
    • Tenenhouse, H.S.1
  • 9
    • 0024450540 scopus 로고
    • X-linked hypophosphatemia: a clinical, biochemical, and histopathologic assessment of morbidity in adults
    • Reid I.R., Hardy D.C., Murphy W.A., Teitelbaum S.L., Bergfeld M.A., Whyte M.P. X-linked hypophosphatemia: a clinical, biochemical, and histopathologic assessment of morbidity in adults. Medicine 1989, 68:336-352.
    • (1989) Medicine , vol.68 , pp. 336-352
    • Reid, I.R.1    Hardy, D.C.2    Murphy, W.A.3    Teitelbaum, S.L.4    Bergfeld, M.A.5    Whyte, M.P.6
  • 11
    • 0025968181 scopus 로고
    • X-linked hypophosphatemic rickets without "rickets"
    • Econs M.J., Feussner J.R., Samsa G.P., et al. X-linked hypophosphatemic rickets without "rickets". Skeletal Radiol 1991, 20:109-114.
    • (1991) Skeletal Radiol , vol.20 , pp. 109-114
    • Econs, M.J.1    Feussner, J.R.2    Samsa, G.P.3
  • 12
    • 0024581636 scopus 로고
    • Familial hypophosphatemic rickets: bone mass measurements in children following therapy with calcitriol and supplemental phosphate
    • Block J.E., Piel C.F., Selvidge R., Genant H.K. Familial hypophosphatemic rickets: bone mass measurements in children following therapy with calcitriol and supplemental phosphate. Calcif Tissue Int 1989, 44:86-92.
    • (1989) Calcif Tissue Int , vol.44 , pp. 86-92
    • Block, J.E.1    Piel, C.F.2    Selvidge, R.3    Genant, H.K.4
  • 13
    • 0025974476 scopus 로고
    • X-linked hypophosphatemia: skeletal mass in adults assessed by histomorphometry, computed tomography, and absorptiometry
    • Reid I.R., Murphy W.A., Hardy D.C., Teitelbaum S.L., Bergfeld M.A., Whyte M.P. X-linked hypophosphatemia: skeletal mass in adults assessed by histomorphometry, computed tomography, and absorptiometry. Am J Med 1991, 90:63-69.
    • (1991) Am J Med , vol.90 , pp. 63-69
    • Reid, I.R.1    Murphy, W.A.2    Hardy, D.C.3    Teitelbaum, S.L.4    Bergfeld, M.A.5    Whyte, M.P.6
  • 14
    • 0026017748 scopus 로고
    • Bone mineral density of the spine and radius shaft in children with X-linked hypophosphatemic rickets (XLH)
    • Oliveri M.B., Cassinelli H., Bergada C., Mautalen C.A. Bone mineral density of the spine and radius shaft in children with X-linked hypophosphatemic rickets (XLH). Bone Miner 1991, 12:91-100.
    • (1991) Bone Miner , vol.12 , pp. 91-100
    • Oliveri, M.B.1    Cassinelli, H.2    Bergada, C.3    Mautalen, C.A.4
  • 15
    • 0027193662 scopus 로고
    • DEXA bone densitometry measurements in adults with X-linked hypophosphatemia
    • Rosenthall L. DEXA bone densitometry measurements in adults with X-linked hypophosphatemia. Clin Nucl Med 1993, 18:564-566.
    • (1993) Clin Nucl Med , vol.18 , pp. 564-566
    • Rosenthall, L.1
  • 16
    • 0034099234 scopus 로고    scopus 로고
    • Lumbar and radial bone mineral density in children and adolescents with X-linked hypophosphatemia: evaluation with dual X-ray absorptiometry
    • Shore R.M., Langman C.B., Poznanski A.K. Lumbar and radial bone mineral density in children and adolescents with X-linked hypophosphatemia: evaluation with dual X-ray absorptiometry. Skeletal Radiol 2000, 29:90-93.
    • (2000) Skeletal Radiol , vol.29 , pp. 90-93
    • Shore, R.M.1    Langman, C.B.2    Poznanski, A.K.3
  • 17
    • 9044237269 scopus 로고    scopus 로고
    • Clinical course of hypophosphatemic rickets in 23 adults
    • Berndt M., Ehrich J.H., Lazovic D., et al. Clinical course of hypophosphatemic rickets in 23 adults. Clin Nephrol 1996, 45:33-41.
    • (1996) Clin Nephrol , vol.45 , pp. 33-41
    • Berndt, M.1    Ehrich, J.H.2    Lazovic, D.3
  • 18
    • 0026005791 scopus 로고
    • The orthopaedic management of hypophosphataemic rickets
    • Ferris B., Walker C., Jackson A., Kirwan E. The orthopaedic management of hypophosphataemic rickets. J Pediatr Orthop 1991, 11:367-373.
    • (1991) J Pediatr Orthop , vol.11 , pp. 367-373
    • Ferris, B.1    Walker, C.2    Jackson, A.3    Kirwan, E.4
  • 19
    • 0027174257 scopus 로고
    • Enthesopathy as the presenting feature of X-linked hypophosphatemia. A case report
    • Chalmers J. Enthesopathy as the presenting feature of X-linked hypophosphatemia. A case report. Acta Orthop Scand 1993, 64:221-223.
    • (1993) Acta Orthop Scand , vol.64 , pp. 221-223
    • Chalmers, J.1
  • 20
    • 0020436987 scopus 로고
    • Bone histomorphometry in asymptomatic adults with hereditary hypophosphatemic vitamin D-resistant osteomalacia
    • Marie P.J., Glorieux F.H. Bone histomorphometry in asymptomatic adults with hereditary hypophosphatemic vitamin D-resistant osteomalacia. Metab Bone Dis Relat Res 1982, 4:249-253.
    • (1982) Metab Bone Dis Relat Res , vol.4 , pp. 249-253
    • Marie, P.J.1    Glorieux, F.H.2
  • 21
    • 0019347758 scopus 로고
    • Histomorphometric study of bone remodeling in hypophosphatemic vitamin D-resistant rickets
    • Marie P.J., Glorieux F.H. Histomorphometric study of bone remodeling in hypophosphatemic vitamin D-resistant rickets. Metab Bone Dis Relat Res 1981, 3:31-38.
    • (1981) Metab Bone Dis Relat Res , vol.3 , pp. 31-38
    • Marie, P.J.1    Glorieux, F.H.2
  • 22
    • 33748376254 scopus 로고    scopus 로고
    • Correction of the mineralization defect in hyp mice treated with protease inhibitors CA074 and pepstatin
    • Rowe P.S., Matsumoto N., Jo O.D., et al. Correction of the mineralization defect in hyp mice treated with protease inhibitors CA074 and pepstatin. Bone 2006, 39:773-786.
    • (2006) Bone , vol.39 , pp. 773-786
    • Rowe, P.S.1    Matsumoto, N.2    Jo, O.D.3
  • 23
    • 0026757482 scopus 로고
    • A prospective trial of phosphate and 1,25-dihydroxyvitamin D3 therapy in symptomatic adults with X-linked hypophosphatemic rickets
    • Sullivan W., Carpenter T., Glorieux F., Travers R., Insogna K. A prospective trial of phosphate and 1,25-dihydroxyvitamin D3 therapy in symptomatic adults with X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 1992, 75:879-885.
    • (1992) J Clin Endocrinol Metab , vol.75 , pp. 879-885
    • Sullivan, W.1    Carpenter, T.2    Glorieux, F.3    Travers, R.4    Insogna, K.5
  • 25
    • 0021354678 scopus 로고
    • Height, sitting height and leg length in patients with hypophosphataemic rickets
    • Steendijk R., Herweijer T.J. Height, sitting height and leg length in patients with hypophosphataemic rickets. Acta Paediatr Scand 1984, 73:181-184.
    • (1984) Acta Paediatr Scand , vol.73 , pp. 181-184
    • Steendijk, R.1    Herweijer, T.J.2
  • 26
    • 0026522974 scopus 로고
    • The pattern of growth and growth retardation of patients with hypophosphataemic vitamin D-resistant rickets: a longitudinal study
    • Steendijk R., Hauspie R.C. The pattern of growth and growth retardation of patients with hypophosphataemic vitamin D-resistant rickets: a longitudinal study. Eur J Pediatr 1992, 151:422-427.
    • (1992) Eur J Pediatr , vol.151 , pp. 422-427
    • Steendijk, R.1    Hauspie, R.C.2
  • 27
    • 0025265911 scopus 로고
    • Linear growth in patients with hypophosphatemic vitamin D-resistant rickets: influence of treatment regimen and parental height [see Comments]
    • Balsan S., Tieder M. Linear growth in patients with hypophosphatemic vitamin D-resistant rickets: influence of treatment regimen and parental height [see Comments]. J Pediatr 1990, 116:365-371.
    • (1990) J Pediatr , vol.116 , pp. 365-371
    • Balsan, S.1    Tieder, M.2
  • 28
    • 0027466959 scopus 로고
    • Effects of calcitriol and phosphorus therapy on the growth of patients with X-linked hypophosphatemia
    • Friedman N.E., Lobaugh B., Drezner M.K. Effects of calcitriol and phosphorus therapy on the growth of patients with X-linked hypophosphatemia. J Clin Endocrinol Metab 1993, 76:839-844.
    • (1993) J Clin Endocrinol Metab , vol.76 , pp. 839-844
    • Friedman, N.E.1    Lobaugh, B.2    Drezner, M.K.3
  • 29
    • 0026131870 scopus 로고
    • Prevalence of dental abscess in a population of children with vitamin D-resistant rickets
    • McWhorter A.G., Seale N.S. Prevalence of dental abscess in a population of children with vitamin D-resistant rickets. Pediatr Dent 1991, 13:91-96.
    • (1991) Pediatr Dent , vol.13 , pp. 91-96
    • McWhorter, A.G.1    Seale, N.S.2
  • 30
    • 0023959326 scopus 로고
    • Structural deformities of deciduous teeth in patients with hypophosphatemic vitamin D-resistant rickets
    • Abe K., Ooshima T., Lily T.S., Yasufuku Y., Sobue S. Structural deformities of deciduous teeth in patients with hypophosphatemic vitamin D-resistant rickets. Oral Surg Oral Med Oral Pathol 1988, 65:191-198.
    • (1988) Oral Surg Oral Med Oral Pathol , vol.65 , pp. 191-198
    • Abe, K.1    Ooshima, T.2    Lily, T.S.3    Yasufuku, Y.4    Sobue, S.5
  • 31
    • 0030209217 scopus 로고    scopus 로고
    • Pathohistology of undecalcified primary teeth in vitamin D-resistant rickets: Review and report of two cases
    • Hillmann G., Geurtsen W. Pathohistology of undecalcified primary teeth in vitamin D-resistant rickets: Review and report of two cases. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1996, 82:18-24.
    • (1996) Oral Surg Oral Med Oral Pathol Oral Radiol Endod , vol.82 , pp. 18-24
    • Hillmann, G.1    Geurtsen, W.2
  • 32
    • 0025931565 scopus 로고
    • Scanning electron microscopic analysis of dentin in vitamin D-resistant rickets - assessment of mineralization and correlation with clinical findings
    • Seeto E., Seow W.K. Scanning electron microscopic analysis of dentin in vitamin D-resistant rickets - assessment of mineralization and correlation with clinical findings. Pediatr Dent 1991, 13:43-48.
    • (1991) Pediatr Dent , vol.13 , pp. 43-48
    • Seeto, E.1    Seow, W.K.2
  • 33
    • 0032019838 scopus 로고    scopus 로고
    • Dental problems associated with hypophosphataemic vitamin D resistant rickets
    • Goodman J.R., Gelbier M.J., Bennett J.H., Winter G.B. Dental problems associated with hypophosphataemic vitamin D resistant rickets. Int J Paediatr Dent 1998, 8:19-28.
    • (1998) Int J Paediatr Dent , vol.8 , pp. 19-28
    • Goodman, J.R.1    Gelbier, M.J.2    Bennett, J.H.3    Winter, G.B.4
  • 34
    • 0029365474 scopus 로고
    • Effect of familial hypophosphatemic rickets on dental development: a controlled, longitudinal study
    • Seow W.K., Needleman H.L., Holm I.A. Effect of familial hypophosphatemic rickets on dental development: a controlled, longitudinal study. Pediatr Dent 1995, 17:346-350.
    • (1995) Pediatr Dent , vol.17 , pp. 346-350
    • Seow, W.K.1    Needleman, H.L.2    Holm, I.A.3
  • 35
    • 0026199067 scopus 로고
    • Oral manifestations of familial hypophosphatemic rickets after phosphate supplement therapy: A review of the literature and report of case
    • Larmas M., Hietala E.L., Simila S., Pajari U. Oral manifestations of familial hypophosphatemic rickets after phosphate supplement therapy: A review of the literature and report of case. J Dent Child 1991, 58:328-334.
    • (1991) J Dent Child , vol.58 , pp. 328-334
    • Larmas, M.1    Hietala, E.L.2    Simila, S.3    Pajari, U.4
  • 36
    • 0026130373 scopus 로고
    • The effect of medical therapy on dentin formation in vitamin D-resistant rickets
    • Seow W.K. The effect of medical therapy on dentin formation in vitamin D-resistant rickets. Pediatr Dent 1991, 13:97-102.
    • (1991) Pediatr Dent , vol.13 , pp. 97-102
    • Seow, W.K.1
  • 37
    • 0035282360 scopus 로고    scopus 로고
    • Ossification of the posterior longitudinal ligament in vitamin D-resistant rickets: case report and review of the literature
    • Velan G.J., Currier B.L., Clarke B.L., Yaszemski M.J. Ossification of the posterior longitudinal ligament in vitamin D-resistant rickets: case report and review of the literature. Spine 2001, 26:590-593.
    • (2001) Spine , vol.26 , pp. 590-593
    • Velan, G.J.1    Currier, B.L.2    Clarke, B.L.3    Yaszemski, M.J.4
  • 38
    • 0026059932 scopus 로고
    • Untreated hypophosphatemic vitamin D-resistant rickets with symptomatic ossification of the ligamenturn flavum
    • Matsui H., Katoh Y., Tsuji H. Untreated hypophosphatemic vitamin D-resistant rickets with symptomatic ossification of the ligamenturn flavum. J Spinal Disord 1991, 4:110-113.
    • (1991) J Spinal Disord , vol.4 , pp. 110-113
    • Matsui, H.1    Katoh, Y.2    Tsuji, H.3
  • 39
    • 0029819097 scopus 로고    scopus 로고
    • Thoracic spinal cord compression caused by hypophosphataemic rickets: a case report and review of the world literature
    • Dunlop D.J., Stirling A.J. Thoracic spinal cord compression caused by hypophosphataemic rickets: a case report and review of the world literature. Eur Spine J 1996, 5:272-274.
    • (1996) Eur Spine J , vol.5 , pp. 272-274
    • Dunlop, D.J.1    Stirling, A.J.2
  • 41
    • 0029931063 scopus 로고    scopus 로고
    • Thoracic spinal stenosis in two brothers due to vitamin D-resistant rickets
    • Ballantyne E.S., Findlay G.F. Thoracic spinal stenosis in two brothers due to vitamin D-resistant rickets. Eur Spine J 1996, 5:125-127.
    • (1996) Eur Spine J , vol.5 , pp. 125-127
    • Ballantyne, E.S.1    Findlay, G.F.2
  • 42
    • 0028146067 scopus 로고
    • Spinal canal stenosis with hypophosphatemic vitamin D-resistant rickets: case report
    • Yamamoto Y., Onofrio B.M. Spinal canal stenosis with hypophosphatemic vitamin D-resistant rickets: case report. Neurosurgery 1994, 35:512-515.
    • (1994) Neurosurgery , vol.35 , pp. 512-515
    • Yamamoto, Y.1    Onofrio, B.M.2
  • 43
    • 0029030287 scopus 로고
    • Chiari I malformation: association with hypophosphatemic rickets and MR imaging appearance
    • Caldemeyer K.S., Boaz J.C., Wappner R.S., Moran C.C., Smith R.R., Quets J.P. Chiari I malformation: association with hypophosphatemic rickets and MR imaging appearance. Radiology 1995, 195:733-738.
    • (1995) Radiology , vol.195 , pp. 733-738
    • Caldemeyer, K.S.1    Boaz, J.C.2    Wappner, R.S.3    Moran, C.C.4    Smith, R.R.5    Quets, J.P.6
  • 44
    • 0023683370 scopus 로고
    • The petrous temporal bone and deafness in X-linked hypophosphataemic osteomalacia
    • O'Malley S.P., Adams J.E., Davies M., Ramsden R.T. The petrous temporal bone and deafness in X-linked hypophosphataemic osteomalacia. Clin Radiol 1988, 39:528-530.
    • (1988) Clin Radiol , vol.39 , pp. 528-530
    • O'Malley, S.P.1    Adams, J.E.2    Davies, M.3    Ramsden, R.T.4
  • 45
    • 0023226308 scopus 로고
    • Audiometric evidence for two forms of X-linked hypophosphatemia in humans, apparent counterparts of Hyp and Gy mutations in mouse
    • Boneh A., Reade T.M., Scriver C.R., Rishikof E. Audiometric evidence for two forms of X-linked hypophosphatemia in humans, apparent counterparts of Hyp and Gy mutations in mouse. Am J Med Genet 1987, 27:997-1003.
    • (1987) Am J Med Genet , vol.27 , pp. 997-1003
    • Boneh, A.1    Reade, T.M.2    Scriver, C.R.3    Rishikof, E.4
  • 47
    • 0021798298 scopus 로고
    • Electrocochleographic changes in the hearing loss associated with X-linked hypophosphataemic osteomalacia
    • O'Malley S., Ramsden R.T., Latif A., Kane R., Davies M. Electrocochleographic changes in the hearing loss associated with X-linked hypophosphataemic osteomalacia. Acta Otolaryngol 1985, 100:13-18.
    • (1985) Acta Otolaryngol , vol.100 , pp. 13-18
    • O'Malley, S.1    Ramsden, R.T.2    Latif, A.3    Kane, R.4    Davies, M.5
  • 48
    • 0030748395 scopus 로고    scopus 로고
    • Cardiovascular abnormalities in patients with X-linked hypophosphatemia
    • Nehgme R., Fahey J.T., Smith C., Carpenter T.O. Cardiovascular abnormalities in patients with X-linked hypophosphatemia. J Clin Endocrinol Metab 1997, 82:2450-2454.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 2450-2454
    • Nehgme, R.1    Fahey, J.T.2    Smith, C.3    Carpenter, T.O.4
  • 50
    • 3242814541 scopus 로고
    • Disorders of the metabolism of calcium, phosphorus, and other minerals
    • Williams & Wilkins, Baltimore, I. Ichikawa (Ed.)
    • Carpenter T.O., Key L.L. Disorders of the metabolism of calcium, phosphorus, and other minerals. Pediatric Textbook of Fluids and Electrolytes 1990, 237-268. Williams & Wilkins, Baltimore. I. Ichikawa (Ed.).
    • (1990) Pediatric Textbook of Fluids and Electrolytes , pp. 237-268
    • Carpenter, T.O.1    Key, L.L.2
  • 51
    • 0030907428 scopus 로고    scopus 로고
    • New perspectives on the biology and treatment of X-linked hypophosphatemic rickets
    • Carpenter T.O. New perspectives on the biology and treatment of X-linked hypophosphatemic rickets. Pediatr Clin North Am 1997, 44:43-66.
    • (1997) Pediatr Clin North Am , vol.44 , pp. 43-66
    • Carpenter, T.O.1
  • 52
    • 0013027750 scopus 로고
    • Kidney function in calcium and phosphate metabolism
    • Academic Press, New York, L.V. Avioli, S.M. Krane (Eds.)
    • Bijvoet O.L.M. Kidney function in calcium and phosphate metabolism. Metabolic Bone Disease 1977, 49-69. Academic Press, New York. L.V. Avioli, S.M. Krane (Eds.).
    • (1977) Metabolic Bone Disease , pp. 49-69
    • Bijvoet, O.L.M.1
  • 53
    • 0017763420 scopus 로고
    • A simple slide-rule method for the assessment of renal tubular reaborption of phosphate in man
    • Walton R.J., Bijvoet O.L. A simple slide-rule method for the assessment of renal tubular reaborption of phosphate in man. Clin Chim Acta 1977, 81:273-276.
    • (1977) Clin Chim Acta , vol.81 , pp. 273-276
    • Walton, R.J.1    Bijvoet, O.L.2
  • 54
    • 0016721902 scopus 로고
    • Nomogram for derivation of renal threshold phosphate concentration
    • Walton R.J., Bijvoet O.L. Nomogram for derivation of renal threshold phosphate concentration. Lancet 1975, 2:309-310.
    • (1975) Lancet , vol.2 , pp. 309-310
    • Walton, R.J.1    Bijvoet, O.L.2
  • 56
    • 0028361036 scopus 로고
    • A YAC contig spanning the hypophosphatemic rickets disease gene (HYP) candidate region
    • Francis F., Rowe P.S., Econs M.J., et al. A YAC contig spanning the hypophosphatemic rickets disease gene (HYP) candidate region. Genomics 1994, 21:229-237.
    • (1994) Genomics , vol.21 , pp. 229-237
    • Francis, F.1    Rowe, P.S.2    Econs, M.J.3
  • 57
    • 0028091087 scopus 로고
    • Refining the genetic map for the region flanking the X-linked hypophosphataemic rickets locus (Xp22.1-22.2)
    • Rowe P.S., Goulding J., Read A., et al. Refining the genetic map for the region flanking the X-linked hypophosphataemic rickets locus (Xp22.1-22.2). Hum Genet 1994, 93:291-294.
    • (1994) Hum Genet , vol.93 , pp. 291-294
    • Rowe, P.S.1    Goulding, J.2    Read, A.3
  • 58
    • 0026785320 scopus 로고
    • Genetic linkage studies of X-linked hypophosphataemic rickets in a Saudi Arabian family
    • Thakker R.V., Farmery M.R., Sakati N.A., Milner R.D. Genetic linkage studies of X-linked hypophosphataemic rickets in a Saudi Arabian family. Clin Endocrinol 1992, 37:338-343.
    • (1992) Clin Endocrinol , vol.37 , pp. 338-343
    • Thakker, R.V.1    Farmery, M.R.2    Sakati, N.A.3    Milner, R.D.4
  • 60
    • 0025173321 scopus 로고
    • Linkage analysis of two cloned DNA sequences, DXS197 and DXS207, in hypophosphatemic rickets families
    • Thakker R.V., Davies K.E., Read A.P., et al. Linkage analysis of two cloned DNA sequences, DXS197 and DXS207, in hypophosphatemic rickets families. Genomics 1990, 8:189-193.
    • (1990) Genomics , vol.8 , pp. 189-193
    • Thakker, R.V.1    Davies, K.E.2    Read, A.P.3
  • 61
    • 0023521418 scopus 로고
    • Bridging markers defining the map position of X linked hypophosphataemic rickets
    • Thakker R.V., Read A.P., Davies K.E., et al. Bridging markers defining the map position of X linked hypophosphataemic rickets. J Med Genet 1987, 24:756-760.
    • (1987) J Med Genet , vol.24 , pp. 756-760
    • Thakker, R.V.1    Read, A.P.2    Davies, K.E.3
  • 62
    • 0022475552 scopus 로고
    • X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22
    • Machler M., Frey D., Gal A., et al. X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22. Hum Genet 1986, 73:271-275.
    • (1986) Hum Genet , vol.73 , pp. 271-275
    • Machler, M.1    Frey, D.2    Gal, A.3
  • 63
    • 0022515698 scopus 로고
    • Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis
    • Read A.P., Thakker R.V., Davies K.E., et al. Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis. Hum Genet 1986, 73:267-270.
    • (1986) Hum Genet , vol.73 , pp. 267-270
    • Read, A.P.1    Thakker, R.V.2    Davies, K.E.3
  • 66
    • 0027324181 scopus 로고
    • Flanking markers define the X-linked hypophosphatemic rickets gene locus
    • Econs M.J., Fain P.R., Norman M., et al. Flanking markers define the X-linked hypophosphatemic rickets gene locus. J Bone Miner Res 1993, 8:1149-1152.
    • (1993) J Bone Miner Res , vol.8 , pp. 1149-1152
    • Econs, M.J.1    Fain, P.R.2    Norman, M.3
  • 67
    • 0027949070 scopus 로고
    • Fine structure mapping of the human X-linked hypophosphatemic rickets gene locus
    • Econs M.J., Rowe P.S., Francis F., et al. Fine structure mapping of the human X-linked hypophosphatemic rickets gene locus. J Clin Endocrinol Metab 1994, 79:1351-1354.
    • (1994) J Clin Endocrinol Metab , vol.79 , pp. 1351-1354
    • Econs, M.J.1    Rowe, P.S.2    Francis, F.3
  • 68
    • 0029160578 scopus 로고
    • A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets
    • Consortium H.Y.P. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nature Genet 1995, 11:130-136.
    • (1995) Nature Genet , vol.11 , pp. 130-136
    • Consortium, H.Y.P.1
  • 69
    • 0004187426 scopus 로고
    • Organization of the gene encoding common acute lymphoblast miniexons and separate 5' untranslated regions
    • D'Adamio L., Shipp M.A., Masteller E.L., Reinherz E.L. Organization of the gene encoding common acute lymphoblast miniexons and separate 5' untranslated regions. Proc Natl Acad Sci USA 1989, 86:7103-7107.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 7103-7107
    • D'Adamio, L.1    Shipp, M.A.2    Masteller, E.L.3    Reinherz, E.L.4
  • 70
    • 0027992642 scopus 로고
    • ECE-1: a membrane-bound metalloprotease that catalyzes the proteolytic activation of big endothelin-1
    • Xu D., Emoto N., Giaid A., et al. ECE-1: a membrane-bound metalloprotease that catalyzes the proteolytic activation of big endothelin-1. Cell 1994, 78:473-485.
    • (1994) Cell , vol.78 , pp. 473-485
    • Xu, D.1    Emoto, N.2    Giaid, A.3
  • 71
    • 0025779323 scopus 로고
    • Molecular cloning and primary structure of Kell blood group protein
    • Lee S., Zambas E.D., Marsh W.L., Redman C.M. Molecular cloning and primary structure of Kell blood group protein. Proc Natl Acad Sci USA 1991, 88:6353-6357.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 6353-6357
    • Lee, S.1    Zambas, E.D.2    Marsh, W.L.3    Redman, C.M.4
  • 72
    • 0030938927 scopus 로고    scopus 로고
    • Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice
    • Beck L., Soumounou Y., Martel J., et al. 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 1997, 99:1200-1209.
    • (1997) J Clin Invest , vol.99 , pp. 1200-1209
    • Beck, L.1    Soumounou, Y.2    Martel, J.3
  • 73
    • 0031584863 scopus 로고    scopus 로고
    • Expression and cloning of the human X-linked hypophosphatemia gene cDNA
    • Grieff M., Mumm S., Waeltz P., et al. Expression and cloning of the human X-linked hypophosphatemia gene cDNA. Biochem Biophys Res Commun 1997, 231:635-639.
    • (1997) Biochem Biophys Res Commun , vol.231 , pp. 635-639
    • Grieff, M.1    Mumm, S.2    Waeltz, P.3
  • 74
    • 14444280391 scopus 로고    scopus 로고
    • Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets
    • Francis F., Strom T.M., Hennig S., et al. Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets. Genome Res 1997, 7:573-585.
    • (1997) Genome Res , vol.7 , pp. 573-585
    • Francis, F.1    Strom, T.M.2    Hennig, S.3
  • 75
    • 0030964935 scopus 로고    scopus 로고
    • Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets
    • Holm I.A., Huang X., Kunkel L.M. Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. Am J Hum Genet 1997, 60:790-797.
    • (1997) Am J Hum Genet , vol.60 , pp. 790-797
    • Holm, I.A.1    Huang, X.2    Kunkel, L.M.3
  • 76
    • 0034889880 scopus 로고    scopus 로고
    • Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets
    • Holm I.A., Nelson A.E., Robinson B.G., et al. Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 2001, 86:3889-3899.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 3889-3899
    • Holm, I.A.1    Nelson, A.E.2    Robinson, B.G.3
  • 77
    • 0001311418 scopus 로고    scopus 로고
    • Seven novel mutations in the PEX gene indicate molecular heterogeneity for X-linked hypophosphatemic rickets
    • S136
    • Dixon P.H., Wooding C., Trump D., Schlessinger D., Whyte M.P., Thakker R.V. Seven novel mutations in the PEX gene indicate molecular heterogeneity for X-linked hypophosphatemic rickets. J Bone Miner Res 1996, 11. S136.
    • (1996) J Bone Miner Res , vol.11
    • Dixon, P.H.1    Wooding, C.2    Trump, D.3    Schlessinger, D.4    Whyte, M.P.5    Thakker, R.V.6
  • 78
    • 84882840167 scopus 로고    scopus 로고
    • Twelve novel PEX mutations in X-linked hypophosphatemic rickets indicate molecular heterogeneity. [Abstract OC12]
    • Dixon P.H., Wooding C., Christie P., et al. Twelve novel PEX mutations in X-linked hypophosphatemic rickets indicate molecular heterogeneity. [Abstract OC12]. J Endocrinol 1997, 152.
    • (1997) J Endocrinol , pp. 152
    • Dixon, P.H.1    Wooding, C.2    Christie, P.3
  • 79
    • 15644362412 scopus 로고    scopus 로고
    • Mutational analysis of PHEX gene in X-linked hypophosphatemia
    • Dixon P.H., Christie P.T., Wooding C., et al. Mutational analysis of PHEX gene in X-linked hypophosphatemia. J Clin Endocrinol Metab 1998, 83:3615-3623.
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 3615-3623
    • Dixon, P.H.1    Christie, P.T.2    Wooding, C.3
  • 80
    • 8244251430 scopus 로고    scopus 로고
    • Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP)
    • Rowe P.S., Oudet C.L., Francis F., et al. Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). Hum Mol Genet 1997, 6:539-549.
    • (1997) Hum Mol Genet , vol.6 , pp. 539-549
    • Rowe, P.S.1    Oudet, C.L.2    Francis, F.3
  • 81
    • 0034164441 scopus 로고    scopus 로고
    • Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets
    • 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 2000, 15:383-384.
    • (2000) Hum Mutat , vol.15 , pp. 383-384
    • Tyynismaa, H.1    Kaitila, I.2    Nanto-salonen, K.3    Ala-houhala, M.4    Alitalo, T.5
  • 82
    • 0032794360 scopus 로고    scopus 로고
    • Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues
    • Filisetti D., Ostermann G., Von Bredow M., et al. Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues. Eur J Hum Genet 1999, 7:615-619.
    • (1999) Eur J Hum Genet , vol.7 , pp. 615-619
    • Filisetti, D.1    Ostermann, G.2    Von Bredow, M.3
  • 83
    • 0033804543 scopus 로고    scopus 로고
    • Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets
    • Sato K., Tajima T., Nakae J., et al. Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. Pediatr Res 2000, 48:536-540.
    • (2000) Pediatr Res , vol.48 , pp. 536-540
    • Sato, K.1    Tajima, T.2    Nakae, J.3
  • 85
    • 0033763097 scopus 로고    scopus 로고
    • Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF-23
    • Consortium A.D.H.R. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF-23. Nature Genet 2000, 26:345-348.
    • (2000) Nature Genet , vol.26 , pp. 345-348
    • Consortium, A.D.H.R.1
  • 86
    • 0033939658 scopus 로고    scopus 로고
    • PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia
    • Sabbagh Y., Jones A.O., Tenenhouse H.S. PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia. Hum Mutat 2000, 16:1-6.
    • (2000) Hum Mutat , vol.16 , pp. 1-6
    • Sabbagh, Y.1    Jones, A.O.2    Tenenhouse, H.S.3
  • 87
    • 0002299353 scopus 로고
    • A genetic study of familial hypophosphatemia and vitamin D-resistant rickets with a review of the literature
    • Winters R.W., Graham J.B., Williams T.F., McFalls V.W., Burnett C.H. A genetic study of familial hypophosphatemia and vitamin D-resistant rickets with a review of the literature. Medicine 1958, 37:97.
    • (1958) Medicine , vol.37 , pp. 97
    • Winters, R.W.1    Graham, J.B.2    Williams, T.F.3    McFalls, V.W.4    Burnett, C.H.5
  • 88
    • 0029798574 scopus 로고    scopus 로고
    • X-linked hypophosphatemia: a search for gender, race, anticipation, or parent of origin effects on disease expression in children
    • Whyte M.P., Schranck F.W., Armamento-Villareal R. X-linked hypophosphatemia: a search for gender, race, anticipation, or parent of origin effects on disease expression in children. J Clin Endocrinol Metab 1996, 81:4075-4080.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 4075-4080
    • Whyte, M.P.1    Schranck, F.W.2    Armamento-villareal, R.3
  • 89
    • 0025323214 scopus 로고
    • X-linked hypophosphatemia: the mutant gene is expressed in teeth as well as in kidney
    • Shields E.D., Scriver C.R., Reade T., et al. X-linked hypophosphatemia: the mutant gene is expressed in teeth as well as in kidney. Am J Hum Genet 1990, 46:434-442.
    • (1990) Am J Hum Genet , vol.46 , pp. 434-442
    • Shields, E.D.1    Scriver, C.R.2    Reade, T.3
  • 90
    • 0026680302 scopus 로고
    • X-linked hypophosphataemia: a homologous phenotype in humans and mice with unusual organ-specific gene dosage
    • Scriver C.R., Tenenhouse H.S. X-linked hypophosphataemia: a homologous phenotype in humans and mice with unusual organ-specific gene dosage. J Inherit Metab Dis 1992, 15:610-624.
    • (1992) J Inherit Metab Dis , vol.15 , pp. 610-624
    • Scriver, C.R.1    Tenenhouse, H.S.2
  • 91
    • 0026720884 scopus 로고
    • X-linked hypophosphatemic rickets: a study (with literature review) of linear growth response to calcitriol and phosphate therapy
    • Petersen D.J., Boniface A.M., Schranck F.W., Rupich R.C., Whyte M.P. X-linked hypophosphatemic rickets: a study (with literature review) of linear growth response to calcitriol and phosphate therapy. J Bone Miner Res 1992, 7:583-597.
    • (1992) J Bone Miner Res , vol.7 , pp. 583-597
    • Petersen, D.J.1    Boniface, A.M.2    Schranck, F.W.3    Rupich, R.C.4    Whyte, M.P.5
  • 92
    • 0024596990 scopus 로고
    • X-linked hypophosphatemia in adults: prevalence of skeletal radiographic and scintigraphic features
    • Hardy D.C., Murphy W.A., Siegel B.A., Reid I.R., Whyte M.P. X-linked hypophosphatemia in adults: prevalence of skeletal radiographic and scintigraphic features. Radiology 1989, 171:403-414.
    • (1989) Radiology , vol.171 , pp. 403-414
    • Hardy, D.C.1    Murphy, W.A.2    Siegel, B.A.3    Reid, I.R.4    Whyte, M.P.5
  • 93
    • 0029761278 scopus 로고    scopus 로고
    • X chromosome inactivation pattern in female carriers of X linked hypophosphataemic rickets
    • Orstavi K.H., Orstavik R.E., Halse J., Knudtzon J. X chromosome inactivation pattern in female carriers of X linked hypophosphataemic rickets. J Med Genet 1996, 33:700-703.
    • (1996) J Med Genet , vol.33 , pp. 700-703
    • Orstavi, K.H.1    Orstavik, R.E.2    Halse, J.3    Knudtzon, J.4
  • 94
    • 77951259224 scopus 로고    scopus 로고
    • Regulation of phosphate transport by fibroblast growth factor 23 (FGF-23): implications for disorders of phosphate metabolism
    • Gattineni J., Baum M. Regulation of phosphate transport by fibroblast growth factor 23 (FGF-23): implications for disorders of phosphate metabolism. Pediatr Nephrol 2010, 25:591-601.
    • (2010) Pediatr Nephrol , vol.25 , pp. 591-601
    • Gattineni, J.1    Baum, M.2
  • 95
    • 73949096454 scopus 로고    scopus 로고
    • Fibroblast growth factor 23 and its role in phosphate homeostasis
    • Ramon I., Kleynen P., Body J.J., Karmali R. Fibroblast growth factor 23 and its role in phosphate homeostasis. Eur J Endocrinol 2010, 162:1-10.
    • (2010) Eur J Endocrinol , vol.162 , pp. 1-10
    • Ramon, I.1    Kleynen, P.2    Body, J.J.3    Karmali, R.4
  • 97
    • 0030781374 scopus 로고    scopus 로고
    • The effect of recombinant human growth hormone in children with X-linked hypophosphatemia
    • Seikaly M.G., Brown R., Baum M. The effect of recombinant human growth hormone in children with X-linked hypophosphatemia. Pediatrics 1997, 100:879-884.
    • (1997) Pediatrics , vol.100 , pp. 879-884
    • Seikaly, M.G.1    Brown, R.2    Baum, M.3
  • 98
    • 0029099464 scopus 로고
    • Disproportionate growth following long-term growth hormone treatment in short children with X-linked hypophosphataemia
    • Haffner D., Wuhl E., Blum W.F., Schaefer F., Mehls O. Disproportionate growth following long-term growth hormone treatment in short children with X-linked hypophosphataemia. Eur J Pediatr 1995, 154:610-613.
    • (1995) Eur J Pediatr , vol.154 , pp. 610-613
    • Haffner, D.1    Wuhl, E.2    Blum, W.F.3    Schaefer, F.4    Mehls, O.5
  • 99
    • 0029956101 scopus 로고    scopus 로고
    • Acute biochemical effects of growth hormone treatment compared with conventional treatment in familial hypophosphataemic rickets
    • Patel L., Clayton P.E., Brain C., et al. Acute biochemical effects of growth hormone treatment compared with conventional treatment in familial hypophosphataemic rickets. Clin Endocrinol 1996, 44:687-696.
    • (1996) Clin Endocrinol , vol.44 , pp. 687-696
    • Patel, L.1    Clayton, P.E.2    Brain, C.3
  • 101
    • 0021844218 scopus 로고
    • Effects of hydrochlorothiazide and amiloride in renal hypophosphatemic rickets
    • Alon U., Chan J.C. Effects of hydrochlorothiazide and amiloride in renal hypophosphatemic rickets. Pediatrics 1985, 75:754-763.
    • (1985) Pediatrics , vol.75 , pp. 754-763
    • Alon, U.1    Chan, J.C.2
  • 102
    • 0027902444 scopus 로고
    • A primer of osteotomy of the weight bearing long bones in children
    • Dietz F.R. A primer of osteotomy of the weight bearing long bones in children. Iowa Orthop J 1993, 13:136-148.
    • (1993) Iowa Orthop J , vol.13 , pp. 136-148
    • Dietz, F.R.1
  • 103
    • 0024232628 scopus 로고
    • Principles and results of corrective lower limb osteotomies for patients with vitamin D-resistant hypophosphatemic rickets
    • Rubinovitch M., Said S.E., Glorieux F.H., Cruess R.L., Rogala E. Principles and results of corrective lower limb osteotomies for patients with vitamin D-resistant hypophosphatemic rickets. Clin Orthop Rel Res 1988, 237:264-270.
    • (1988) Clin Orthop Rel Res , vol.237 , pp. 264-270
    • Rubinovitch, M.1    Said, S.E.2    Glorieux, F.H.3    Cruess, R.L.4    Rogala, E.5
  • 104
    • 0028955667 scopus 로고
    • Unilateral external fixation for corrective osteotomies in patients with hypophosphatemic rickets
    • Kanel J.S., Price C.T. Unilateral external fixation for corrective osteotomies in patients with hypophosphatemic rickets. J Pediatr Orthop 1995, 15:232-235.
    • (1995) J Pediatr Orthop , vol.15 , pp. 232-235
    • Kanel, J.S.1    Price, C.T.2
  • 105
    • 33645925360 scopus 로고    scopus 로고
    • Hypophosphatemic rickets: the role of hemiepiphysiodesis
    • Novais E., Stevens P.M. Hypophosphatemic rickets: the role of hemiepiphysiodesis. J Pediatr Orthop 2006, 26:238-244.
    • (2006) J Pediatr Orthop , vol.26 , pp. 238-244
    • Novais, E.1    Stevens, P.M.2
  • 106
    • 0026021858 scopus 로고
    • Acute effects of calcitriol and phosphate salts on mineral metabolism in children with hypophosphatemic rickets
    • Bettinelli A., Bianchi M.L., Mazzucchi E., Gandolini G., Appiani A.C. Acute effects of calcitriol and phosphate salts on mineral metabolism in children with hypophosphatemic rickets. J Pediatr 1991, 118:372-376.
    • (1991) J Pediatr , vol.118 , pp. 372-376
    • Bettinelli, A.1    Bianchi, M.L.2    Mazzucchi, E.3    Gandolini, G.4    Appiani, A.C.5
  • 107
    • 0024421538 scopus 로고
    • Effect of single oral phosphate loading on vitamin D metabolites in normal subjects and in X-linked hypophosphatemic rickets
    • Yamaoka K., Tanaka H., Kurose H., et al. Effect of single oral phosphate loading on vitamin D metabolites in normal subjects and in X-linked hypophosphatemic rickets. Bone Miner 1989, 7:159-169.
    • (1989) Bone Miner , vol.7 , pp. 159-169
    • Yamaoka, K.1    Tanaka, H.2    Kurose, H.3
  • 109
    • 0028321569 scopus 로고
    • Nephrocalcinosis in X-linked hypophosphataemic rickets: its relationship to treatment, kidney function, and growth
    • Kooh S.W., Binet A., Daneman A. Nephrocalcinosis in X-linked hypophosphataemic rickets: its relationship to treatment, kidney function, and growth. Clin Invest Med 1994, 17:123-130.
    • (1994) Clin Invest Med , vol.17 , pp. 123-130
    • Kooh, S.W.1    Binet, A.2    Daneman, A.3
  • 110
    • 0025297735 scopus 로고
    • Evidence suggesting hyperoxaluria as a cause of nephrocalcinosis in phosphate-treated hypophosphataemic rickets
    • Reusz G.S., Latta K., Hoyer P.F., Byrd D.J., Ehrich J.H., Brodehl J. Evidence suggesting hyperoxaluria as a cause of nephrocalcinosis in phosphate-treated hypophosphataemic rickets. Lancet 1990, 335:1240-1243.
    • (1990) Lancet , vol.335 , pp. 1240-1243
    • Reusz, G.S.1    Latta, K.2    Hoyer, P.F.3    Byrd, D.J.4    Ehrich, J.H.5    Brodehl, J.6
  • 111
    • 0026506217 scopus 로고
    • Metabolic and histologic investigation of the nature of nephrocalcinosis in children with hypophosphatemic rickets and in the Hyp mouse
    • Alon U., Donaldson D.L., Hellerstein S., Warady B.A., Harris D.J. Metabolic and histologic investigation of the nature of nephrocalcinosis in children with hypophosphatemic rickets and in the Hyp mouse. J Pediatr 1992, 120:899-905.
    • (1992) J Pediatr , vol.120 , pp. 899-905
    • Alon, U.1    Donaldson, D.L.2    Hellerstein, S.3    Warady, B.A.4    Harris, D.J.5
  • 112
    • 0021795770 scopus 로고
    • Calcification of entheses associated with X-linked hypophosphatemic osteomalacia
    • Polisson R.P., Martinez S., Khoury M., et al. Calcification of entheses associated with X-linked hypophosphatemic osteomalacia. N Engl J Med 1985, 313:1-6.
    • (1985) N Engl J Med , vol.313 , pp. 1-6
    • Polisson, R.P.1    Martinez, S.2    Khoury, M.3
  • 113
    • 0029014428 scopus 로고
    • Familial hypophosphatemic rickets causing ocular calcification and optic canal narrowing
    • Caldemeyer K.S., Smith R.R., Edwards-Brown M.K. Familial hypophosphatemic rickets causing ocular calcification and optic canal narrowing. Am J Neuroradiol 1995, 16:1252-1254.
    • (1995) Am J Neuroradiol , vol.16 , pp. 1252-1254
    • Caldemeyer, K.S.1    Smith, R.R.2    Edwards-brown, M.K.3
  • 114
    • 0034928656 scopus 로고    scopus 로고
    • Ectopic cardiac calcification associated with hyperparathyroidism in a boy with hypophosphatemic rickets
    • Moltz K.C., Friedman A.H., Nehgme R.A., Kleinman C.S., Carpenter T.O. Ectopic cardiac calcification associated with hyperparathyroidism in a boy with hypophosphatemic rickets. Curr Opin Pediatr 2001, 13:373-375.
    • (2001) Curr Opin Pediatr , vol.13 , pp. 373-375
    • Moltz, K.C.1    Friedman, A.H.2    Nehgme, R.A.3    Kleinman, C.S.4    Carpenter, T.O.5
  • 116
    • 0031035615 scopus 로고    scopus 로고
    • Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder
    • Econs M.J., McEnery P.T. Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder. J Clin Endocrinol Metab 1997, 82:674-681.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 674-681
    • Econs, M.J.1    McEnery, P.T.2
  • 117
    • 84882820406 scopus 로고    scopus 로고
    • FGF-23 is related to serum iron concentrations in ADHR
    • Available at, Accessed February 10, 2011
    • Imel E., Gray A., Econs M. FGF-23 is related to serum iron concentrations in ADHR. J Bone Miner Res 2009, 24(S1). Available at, Accessed February 10, 2011. http://www.asbmr.org/Meetings/AnnualMeeting/AbstractDetail.aspx?aid=d5dc ac8e-264e-47d3-9291-b37ecb57c8e6.
    • (2009) J Bone Miner Res , vol.24 , Issue.S1
    • Imel, E.1    Gray, A.2    Econs, M.3
  • 118
    • 34249664523 scopus 로고    scopus 로고
    • FGF-23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets
    • Imel E.A., Hui S.L., Econs M.J. FGF-23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets. J Bone Miner Res 2007, 22:520-526.
    • (2007) J Bone Miner Res , vol.22 , pp. 520-526
    • Imel, E.A.1    Hui, S.L.2    Econs, M.J.3
  • 119
    • 33750454816 scopus 로고    scopus 로고
    • Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism
    • Feng J.Q., Ward L.M., Liu S., et al. Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. Nat Genet 2006, 38:1310-1315.
    • (2006) Nat Genet , vol.38 , pp. 1310-1315
    • Feng, J.Q.1    Ward, L.M.2    Liu, S.3
  • 120
    • 33750427897 scopus 로고    scopus 로고
    • DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis
    • Lorenz-Depiereux B., Bastepe M., Benet-Pagès A., et al. DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat Genet 2006, 38:1248-1250.
    • (2006) Nat Genet , vol.38 , pp. 1248-1250
    • Lorenz-depiereux, B.1    Bastepe, M.2    Benet-pagès, A.3
  • 121
    • 77953207729 scopus 로고    scopus 로고
    • Expression and distribution of SIBLING proteins in the predentin/dentin and mandible of hyp mice
    • Zhang B., Sun Y., Chen L., Guan C., Guo L., Qin C. Expression and distribution of SIBLING proteins in the predentin/dentin and mandible of hyp mice. Oral Dis 2010, 16:453-464.
    • (2010) Oral Dis , vol.16 , pp. 453-464
    • Zhang, B.1    Sun, Y.2    Chen, L.3    Guan, C.4    Guo, L.5    Qin, C.6
  • 122
    • 1642313676 scopus 로고    scopus 로고
    • Concerted regulation of inorganic pyrophosphate and osteopontin by akp2, enpp1, and ank: an integrated model of the pathogenesis of mineralization disorders
    • Harmey D., Hessle L., Narisawa S., Johnson K.A., Terkeltaub R., Millán J.L. Concerted regulation of inorganic pyrophosphate and osteopontin by akp2, enpp1, and ank: an integrated model of the pathogenesis of mineralization disorders. Am J Pathol 2004, 164:1199-1209.
    • (2004) Am J Pathol , vol.164 , pp. 1199-1209
    • Harmey, D.1    Hessle, L.2    Narisawa, S.3    Johnson, K.A.4    Terkeltaub, R.5    Millán, J.L.6
  • 123
    • 76049105171 scopus 로고    scopus 로고
    • Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets
    • Lorenz-Depiereux B., Schnabel D., Tiosano D., Häusler G., Strom T.M. Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am J Hum Genet 2010, 86:267-272.
    • (2010) Am J Hum Genet , vol.86 , pp. 267-272
    • Lorenz-depiereux, B.1    Schnabel, D.2    Tiosano, D.3    Häusler, G.4    Strom, T.M.5
  • 124
    • 76049121613 scopus 로고    scopus 로고
    • Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene
    • Levy-Litan V., Hershkovitz E., Avizov L., et al. Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Am J Hum Genet 2010, 86:273-278.
    • (2010) Am J Hum Genet , vol.86 , pp. 273-278
    • Levy-litan, V.1    Hershkovitz, E.2    Avizov, L.3
  • 125
    • 0042166167 scopus 로고    scopus 로고
    • Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification
    • Rutsch F., Ruf N., Vaingankar S., et al. Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nat Genet 2003, 34:379-381.
    • (2003) Nat Genet , vol.34 , pp. 379-381
    • Rutsch, F.1    Ruf, N.2    Vaingankar, S.3
  • 126
    • 68149120891 scopus 로고    scopus 로고
    • GACI Study Group. Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy
    • Rutsch F., Böyer P., Nitschke Y., et al. GACI Study Group. Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. Circ Cardiovasc Genet 2008, 1:133-140.
    • (2008) Circ Cardiovasc Genet , vol.1 , pp. 133-140
    • Rutsch, F.1    Böyer, P.2    Nitschke, Y.3
  • 127
    • 0022002364 scopus 로고
    • Hereditary hypophosphatemic rickets with hypercalciuria
    • Tieder M., Modai D., Samuel R., et al. Hereditary hypophosphatemic rickets with hypercalciuria. N Engl J Med 1985, 312:611-617.
    • (1985) N Engl J Med , vol.312 , pp. 611-617
    • Tieder, M.1    Modai, D.2    Samuel, R.3
  • 128
    • 0024397651 scopus 로고
    • Hypercalciuric hypophosphatemic rickets, mineral balance, bone histomorphometry, and therapeutic implications of hypercalciuria
    • Chen C., Carpenter T., Steg N., Baron R., Anast C. Hypercalciuric hypophosphatemic rickets, mineral balance, bone histomorphometry, and therapeutic implications of hypercalciuria. Pediatrics 1989, 84:276-280.
    • (1989) Pediatrics , vol.84 , pp. 276-280
    • Chen, C.1    Carpenter, T.2    Steg, N.3    Baron, R.4    Anast, C.5
  • 129
    • 0023127407 scopus 로고
    • "Idiopathic" hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect
    • 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 1987, 316:125-129.
    • (1987) N Engl J Med , vol.316 , pp. 125-129
    • Tieder, M.1    Modai, D.2    Shaked, U.3
  • 130
    • 84882889017 scopus 로고    scopus 로고
    • Kidney stones
    • Saunders, Philadelphia, J.D. Wilson, D.W. Foster, H.M. Kronenberg, P.R. Larsen (Eds.)
    • Pak C.Y.C. Kidney stones. Williams Textbook of Endocrinology 1998, 1241-1257. Saunders, Philadelphia. J.D. Wilson, D.W. Foster, H.M. Kronenberg, P.R. Larsen (Eds.).
    • (1998) Williams Textbook of Endocrinology , pp. 1241-1257
    • Pak, C.Y.C.1
  • 131
    • 0035126513 scopus 로고    scopus 로고
    • Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene
    • Jones A., Tzenova J., Frappier D., et al. Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene. J Am Soc Nephrol 2001, 12:507-514.
    • (2001) J Am Soc Nephrol , vol.12 , pp. 507-514
    • Jones, A.1    Tzenova, J.2    Frappier, D.3
  • 132
    • 0035160055 scopus 로고    scopus 로고
    • Autosomal recessive hypophosphataemic rickets with hypercalciuria is not caused by mutations in the type II renal sodium/phosphate cotransporter gene
    • Van den Heuvel L., Op de Koul K., Knots E., Knoers N., Monnens L. Autosomal recessive hypophosphataemic rickets with hypercalciuria is not caused by mutations in the type II renal sodium/phosphate cotransporter gene. Nephrol Dial Transplant 2001, 16:48-51.
    • (2001) Nephrol Dial Transplant , vol.16 , pp. 48-51
    • Van Den Heuvel, L.1    Op De Koul, K.2    Knots, E.3    Knoers, N.4    Monnens, L.5
  • 133
    • 52449123460 scopus 로고    scopus 로고
    • A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc
    • Jaureguiberry G., Carpenter T.O., Forman S., Jüppner H., Bergwitz C. A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc. Am J Physiol Renal Physiol 2008, 295:F371-F379.
    • (2008) Am J Physiol Renal Physiol , vol.295
    • Jaureguiberry, G.1    Carpenter, T.O.2    Forman, S.3    Jüppner, H.4    Bergwitz, C.5
  • 134
    • 77950250437 scopus 로고    scopus 로고
    • A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome
    • Magen D., Berger L., Coady M.J., et al. A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome. N Engl J Med 2010, 362:1102-1109.
    • (2010) N Engl J Med , vol.362 , pp. 1102-1109
    • Magen, D.1    Berger, L.2    Coady, M.J.3
  • 137
    • 0020564740 scopus 로고
    • Oncogenic hypophosphatemic osteomalacia
    • Agus Z.S. Oncogenic hypophosphatemic osteomalacia. Kidney Int 1983, 24:113-123.
    • (1983) Kidney Int , vol.24 , pp. 113-123
    • Agus, Z.S.1
  • 141
    • 0023118664 scopus 로고
    • Phosphaturic mesenchymal tumors. A polymorphous group causing osteomalacia or rickets
    • Weidner N., Santa Cruz D. Phosphaturic mesenchymal tumors. A polymorphous group causing osteomalacia or rickets. Cancer 1987, 59:1442-1454.
    • (1987) Cancer , vol.59 , pp. 1442-1454
    • Weidner, N.1    Santa Cruz, D.2
  • 142
    • 9144231813 scopus 로고    scopus 로고
    • Most osteomalacia-associated mesenchymal tumors are a single histopathologic entity: an analysis of 32 cases and a comprehensive review of the literature
    • Folpe A.L., Fanburg-Smith J.C., Billings S.D., et al. Most osteomalacia-associated mesenchymal tumors are a single histopathologic entity: an analysis of 32 cases and a comprehensive review of the literature. Am J Surg Pathol 2004, 28:1-30.
    • (2004) Am J Surg Pathol , vol.28 , pp. 1-30
    • Folpe, A.L.1    Fanburg-smith, J.C.2    Billings, S.D.3
  • 143
    • 0032916730 scopus 로고    scopus 로고
    • Indium-111 pentetreotide scintigraphy of mesenchymal tumor with oncogenic osteomalacia
    • Nguyen B.D., Wang E.A. Indium-111 pentetreotide scintigraphy of mesenchymal tumor with oncogenic osteomalacia. Clin Nucl Med 1999, 24:130-131.
    • (1999) Clin Nucl Med , vol.24 , pp. 130-131
    • Nguyen, B.D.1    Wang, E.A.2
  • 146
    • 0030827017 scopus 로고    scopus 로고
    • Tumor-induced osteomalacia: clinical and basic studies
    • Shane E., Parisien M., Henderson J.E., et al. Tumor-induced osteomalacia: clinical and basic studies. J Bone Miner Res 1997, 12:1502-1511.
    • (1997) J Bone Miner Res , vol.12 , pp. 1502-1511
    • Shane, E.1    Parisien, M.2    Henderson, J.E.3
  • 147
    • 0034454266 scopus 로고    scopus 로고
    • Use of long-term intravenous phosphate infusion in the palliative treatment of tumor-induced osteomalacia
    • Yeung S.J., McCutcheon I.E., Schultz P., Gagel R.F. Use of long-term intravenous phosphate infusion in the palliative treatment of tumor-induced osteomalacia. J Clin Endocrinol Metab 2000, 85:549-555.
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 549-555
    • Yeung, S.J.1    McCutcheon, I.E.2    Schultz, P.3    Gagel, R.F.4
  • 148
    • 14944360740 scopus 로고    scopus 로고
    • Octreotide therapy for tumor-induced osteomalacia
    • Seufert J., Ebert K., Muller J., et al. Octreotide therapy for tumor-induced osteomalacia. N Engl J Med 2001, 345:1883-1888.
    • (2001) N Engl J Med , vol.345 , pp. 1883-1888
    • Seufert, J.1    Ebert, K.2    Muller, J.3
  • 149
    • 0017759323 scopus 로고
    • Vitamin D-resistant rickets associated with epidermal nevus syndrome: demonstration of a phosphaturic substance in the dermal lesions
    • Aschinberg L.C., Solomon L.M., Zeis P.M., Justice P., Rosenthal I.M. Vitamin D-resistant rickets associated with epidermal nevus syndrome: demonstration of a phosphaturic substance in the dermal lesions. J Pediatr 1977, 91:56-60.
    • (1977) J Pediatr , vol.91 , pp. 56-60
    • Aschinberg, L.C.1    Solomon, L.M.2    Zeis, P.M.3    Justice, P.4    Rosenthal, I.M.5
  • 150
    • 17744395066 scopus 로고    scopus 로고
    • The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting
    • White K.E., Jonsson K.B., Cam G., et al. The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting. J Clin Endocrinol Metab 2001, 86:497-500.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 497-500
    • White, K.E.1    Jonsson, K.B.2    Cam, G.3
  • 151
    • 0034805353 scopus 로고    scopus 로고
    • FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate
    • Bowe A.E., Finnegan R., Jan de Beur S.M., et al. FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate. Biochem Biophys Res Commun 2001, 284:977-981.
    • (2001) Biochem Biophys Res Commun , vol.284 , pp. 977-981
    • Bowe, A.E.1    Finnegan, R.2    Jan De Beur, S.M.3
  • 152
    • 14344279878 scopus 로고    scopus 로고
    • Cloning and characterization of FGF-23 as a causative factor of tumor-induced osteomalacia
    • Shimada T., Mizutani S., Muto T., et al. Cloning and characterization of FGF-23 as a causative factor of tumor-induced osteomalacia. Proc Natl Acad Sci USA 2001, 98:6500-6505.
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 6500-6505
    • Shimada, T.1    Mizutani, S.2    Muto, T.3
  • 153
    • 9144248333 scopus 로고    scopus 로고
    • FGF-23 Transgenic mice demonstrate hypophosphatemic rickets with reduced expression of sodium phosphate cotransporter type IIa
    • Shimada T., Urakawa I., Yamazaki Y., et al. FGF-23 Transgenic mice demonstrate hypophosphatemic rickets with reduced expression of sodium phosphate cotransporter type IIa. Biochem Biophys Res Common 2004, 314:409-414.
    • (2004) Biochem Biophys Res Common , vol.314 , pp. 409-414
    • Shimada, T.1    Urakawa, I.2    Yamazaki, Y.3
  • 154
    • 0036738497 scopus 로고    scopus 로고
    • New insights into phosphate homeostasis: fibroblast growth factor 23 and frizzled-related protein-4 are phosphaturic factors derived from tumors associated with osteomalacia
    • Kumar R. New insights into phosphate homeostasis: fibroblast growth factor 23 and frizzled-related protein-4 are phosphaturic factors derived from tumors associated with osteomalacia. Curr Opin Nephrol Hypertens 2002, 11:547-553.
    • (2002) Curr Opin Nephrol Hypertens , vol.11 , pp. 547-553
    • Kumar, R.1
  • 155
    • 0036019490 scopus 로고    scopus 로고
    • Phosphatonins: a new class of phosphate-regulating proteins
    • Schiavi S.C., Moe O.W. Phosphatonins: a new class of phosphate-regulating proteins. Curr Opin Nephrol Hypertens 2002, 11:423-430.
    • (2002) Curr Opin Nephrol Hypertens , vol.11 , pp. 423-430
    • Schiavi, S.C.1    Moe, O.W.2
  • 156
    • 0000152514 scopus 로고    scopus 로고
    • Frizzled related protein 4 expression is elevated in tumors associated with oncogenic osteomalacia and inhibits phosphate transport in vitro
    • S225
    • Vassiliadis J., Jan de Beur S.M., Bowe A.E., et al. Frizzled related protein 4 expression is elevated in tumors associated with oncogenic osteomalacia and inhibits phosphate transport in vitro. J Bone Miner Res 2001, 16. S225.
    • (2001) J Bone Miner Res , vol.16
    • Vassiliadis, J.1    Jan De Beur, S.M.2    Bowe, A.E.3
  • 157
    • 0033003459 scopus 로고    scopus 로고
    • Epidermal naevus syndrome and hypophosphataemic rickets: description of a patient with central nervous system anomalies and review of the literature
    • Olivares J.L., Ramos F.J., Carapeto F.J., Bueno M. Epidermal naevus syndrome and hypophosphataemic rickets: description of a patient with central nervous system anomalies and review of the literature. Eur J Pediatr 1999, 158:103-107.
    • (1999) Eur J Pediatr , vol.158 , pp. 103-107
    • Olivares, J.L.1    Ramos, F.J.2    Carapeto, F.J.3    Bueno, M.4
  • 158
    • 33645874795 scopus 로고    scopus 로고
    • Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis?
    • Heike C.L., Cunningham M.L., Steiner R.D., et al. Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis?. Am J Med Genet A 2005, 139A:67-77.
    • (2005) Am J Med Genet A , vol.139 A , pp. 67-77
    • Heike, C.L.1    Cunningham, M.L.2    Steiner, R.D.3
  • 159
    • 16344378643 scopus 로고    scopus 로고
    • Elevated fibroblast growth factor-23 in hypophosphatemic linear nevus sebaceous syndrome
    • Hoffman W.H., Jueppner H.W., Deyoung B.R., O'dorisio M.S., Given K.S. Elevated fibroblast growth factor-23 in hypophosphatemic linear nevus sebaceous syndrome. Am J Med Genet 2005, 134:233-236.
    • (2005) Am J Med Genet , vol.134 , pp. 233-236
    • Hoffman, W.H.1    Jueppner, H.W.2    Deyoung, B.R.3    O'dorisio, M.S.4    Given, K.S.5
  • 160
    • 77954424487 scopus 로고    scopus 로고
    • Elevated FGF-23 and parathormone in linear nevus sebaceous syndrome with resistant rickets
    • Sethi S.K., Hari P., Bagga A. Elevated FGF-23 and parathormone in linear nevus sebaceous syndrome with resistant rickets. Pediatr Nephrol 2010, 25:1577-1578.
    • (2010) Pediatr Nephrol , vol.25 , pp. 1577-1578
    • Sethi, S.K.1    Hari, P.2    Bagga, A.3
  • 161
    • 33746754183 scopus 로고    scopus 로고
    • Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi
    • Hafner C., van Oers J.M., Vogt T., et al. Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. J Clin Invest 2006, 116:2201-2207.
    • (2006) J Clin Invest , vol.116 , pp. 2201-2207
    • Hafner, C.1    Van Oers, J.M.2    Vogt, T.3
  • 162
    • 0035058573 scopus 로고    scopus 로고
    • Renal phosphate wasting in fibrous dysplasia of bone is part of a generalized renal tubular dysfunction similar to that seen in tumor-induced osteomalacia
    • Collins M.T., Chebli C., Jones J., et al. Renal phosphate wasting in fibrous dysplasia of bone is part of a generalized renal tubular dysfunction similar to that seen in tumor-induced osteomalacia. J Bone Miner Res 2001, 16:806-813.
    • (2001) J Bone Miner Res , vol.16 , pp. 806-813
    • Collins, M.T.1    Chebli, C.2    Jones, J.3
  • 163
    • 0017197386 scopus 로고
    • Hypophosphataemic osteomalacia in fibrous dysplasia
    • Dent C.E., Gertner J.M. Hypophosphataemic osteomalacia in fibrous dysplasia. Q J Med 1976, 45:411-420.
    • (1976) Q J Med , vol.45 , pp. 411-420
    • Dent, C.E.1    Gertner, J.M.2
  • 164
    • 85047691059 scopus 로고    scopus 로고
    • FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting
    • Riminucci M., Collins M.T., Fedarko N.S., et al. FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. J Clin Invest 2003, 112:683-692.
    • (2003) J Clin Invest , vol.112 , pp. 683-692
    • Riminucci, M.1    Collins, M.T.2    Fedarko, N.S.3
  • 165
    • 0034809953 scopus 로고    scopus 로고
    • A case of neuroendocrine oncogenic osteomalacia associated with a PHEX and fibroblast growth factor-23 expressing sinusoidal malignant schwannoma
    • John M.R., Wickert H., Zaar K., et al. A case of neuroendocrine oncogenic osteomalacia associated with a PHEX and fibroblast growth factor-23 expressing sinusoidal malignant schwannoma. Bone 2001, 29:393-402.
    • (2001) Bone , vol.29 , pp. 393-402
    • John, M.R.1    Wickert, H.2    Zaar, K.3
  • 166
    • 0025891066 scopus 로고
    • Hypophosphatemic osteomalacia in von Recklinghausen neurofibromatosis
    • Konishi K., Nakamura M., Yamakawa H., et al. Hypophosphatemic osteomalacia in von Recklinghausen neurofibromatosis. Am J Med Sci 1991, 301:322-328.
    • (1991) Am J Med Sci , vol.301 , pp. 322-328
    • Konishi, K.1    Nakamura, M.2    Yamakawa, H.3
  • 167
    • 0017032590 scopus 로고
    • Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets
    • Eicher E.M., Southard J.L., Scriver C.R., Glorieux F.H. Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets. Proc Natl Acad Sci USA 1976, 73:4667-4671.
    • (1976) Proc Natl Acad Sci USA , vol.73 , pp. 4667-4671
    • Eicher, E.M.1    Southard, J.L.2    Scriver, C.R.3    Glorieux, F.H.4
  • 169
    • 0017665214 scopus 로고
    • Lack of effect of vitamin D and its metabolites on intestinal phosphate transport in familial hypophosphatemia of mice
    • O'Doherty P.J., DeLuca H.F., Eicher E.M. Lack of effect of vitamin D and its metabolites on intestinal phosphate transport in familial hypophosphatemia of mice. Endocrinology 1977, 101:1325-1330.
    • (1977) Endocrinology , vol.101 , pp. 1325-1330
    • O'Doherty, P.J.1    DeLuca, H.F.2    Eicher, E.M.3
  • 170
    • 0018185348 scopus 로고
    • The defect in transcellular transport of phosphate in the nephron is located in brush-border membranes in X-linked hypophosphatemia (Hyp mouse model)
    • Tenenhouse H.S., Scriver C.R. The defect in transcellular transport of phosphate in the nephron is located in brush-border membranes in X-linked hypophosphatemia (Hyp mouse model). Can J Biochem 1978, 56:640-646.
    • (1978) Can J Biochem , vol.56 , pp. 640-646
    • Tenenhouse, H.S.1    Scriver, C.R.2
  • 171
    • 0018180281 scopus 로고
    • Renal handling of phosphate in vivo and in vitro by the X-linked hypophosphatemic male mouse: evidence for a defect in the brush border membrane
    • Tenenhouse H.S., Scriver C.R., McInnes R.R., Glorieux F.H. Renal handling of phosphate in vivo and in vitro by the X-linked hypophosphatemic male mouse: evidence for a defect in the brush border membrane. Kidney Int 1978, 14:236-244.
    • (1978) Kidney Int , vol.14 , pp. 236-244
    • Tenenhouse, H.S.1    Scriver, C.R.2    McInnes, R.R.3    Glorieux, F.H.4
  • 172
    • 0019325846 scopus 로고
    • Alkaline phosphatase activity does not mediate phosphate transport in the renal-cortical brush-border membrane
    • Tenenhouse H.S., Scriver C.R., Vizel E.J. Alkaline phosphatase activity does not mediate phosphate transport in the renal-cortical brush-border membrane. Biochem J 1980, 190:473-476.
    • (1980) Biochem J , vol.190 , pp. 473-476
    • Tenenhouse, H.S.1    Scriver, C.R.2    Vizel, E.J.3
  • 173
    • 0024464759 scopus 로고
    • Effect of phosphonoformic acid, dietary phosphate and the Hyp mutation on kinetically distinct phosphate transport processes in mouse kidney
    • Tenenhouse H.S., Klugerman A.H., Neal J.L. Effect of phosphonoformic acid, dietary phosphate and the Hyp mutation on kinetically distinct phosphate transport processes in mouse kidney. Biochim Biophys Acta 1989, 984:207-213.
    • (1989) Biochim Biophys Acta , vol.984 , pp. 207-213
    • Tenenhouse, H.S.1    Klugerman, A.H.2    Neal, J.L.3
  • 174
    • 27844501565 scopus 로고    scopus 로고
    • Dietary and serum phosphorus regulate fibroblast growth factor 23 expression and 1,25-dihydroxyvitamin D metabolism in mice
    • Perwad F., Azam N., Zhang M.Y., Yamashita T., Tenenhouse H.S., Portale A.A. Dietary and serum phosphorus regulate fibroblast growth factor 23 expression and 1,25-dihydroxyvitamin D metabolism in mice. Endocrinology 2005, 146:5358-5364.
    • (2005) Endocrinology , vol.146 , pp. 5358-5364
    • Perwad, F.1    Azam, N.2    Zhang, M.Y.3    Yamashita, T.4    Tenenhouse, H.S.5    Portale, A.A.6
  • 175
    • 0020174673 scopus 로고
    • Secondary hyperparathyroidism in X-linked hypophosphatemic mice
    • Kiebzak G.M., Roos B.A., Meyer R.A. Secondary hyperparathyroidism in X-linked hypophosphatemic mice. Endocrinology 1982, 111:650-652.
    • (1982) Endocrinology , vol.111 , pp. 650-652
    • Kiebzak, G.M.1    Roos, B.A.2    Meyer, R.A.3
  • 177
    • 0030067376 scopus 로고    scopus 로고
    • Effects of altered diet on serum levels of 1,25-dihydroxyvitamin D and parathyroid hormone in X-linked hypophosphatemic (Hyp and Gy) mice
    • Meyer R.A., Meyer M.H., Morgan P.L. Effects of altered diet on serum levels of 1,25-dihydroxyvitamin D and parathyroid hormone in X-linked hypophosphatemic (Hyp and Gy) mice. Bone 1996, 18:23-28.
    • (1996) Bone , vol.18 , pp. 23-28
    • Meyer, R.A.1    Meyer, M.H.2    Morgan, P.L.3
  • 179
    • 0019523666 scopus 로고
    • Healing of rickets with phosphate supplementation in the hypophosphatemic male mouse
    • Marie P.J., Travers R., Glorieux F.H. Healing of rickets with phosphate supplementation in the hypophosphatemic male mouse. J Clin Invest 1981, 67:911-914.
    • (1981) J Clin Invest , vol.67 , pp. 911-914
    • Marie, P.J.1    Travers, R.2    Glorieux, F.H.3
  • 180
    • 0020028750 scopus 로고
    • Bone response to phosphate and vitamin D metabolites in the hypophosphatemic male mouse
    • Marie P.J., Travers R., Glorieux F.H. Bone response to phosphate and vitamin D metabolites in the hypophosphatemic male mouse. Calcif Tissue Int 1982, 34:158-164.
    • (1982) Calcif Tissue Int , vol.34 , pp. 158-164
    • Marie, P.J.1    Travers, R.2    Glorieux, F.H.3
  • 181
    • 0026513193 scopus 로고
    • Defective bone formation by Hyp mouse bone cells transplanted into normal mice: evidence in favor of an intrinsic osteoblast defect
    • Ecarot B., Glorieux F.H., Desbarats M., Travers R., Labelle L. Defective bone formation by Hyp mouse bone cells transplanted into normal mice: evidence in favor of an intrinsic osteoblast defect. J Bone Miner Res 1992, 7:215-220.
    • (1992) J Bone Miner Res , vol.7 , pp. 215-220
    • Ecarot, B.1    Glorieux, F.H.2    Desbarats, M.3    Travers, R.4    Labelle, L.5
  • 182
    • 0028912606 scopus 로고
    • Effect of 1,25-dihydroxyvitamin D3 treatment on bone formation by transplanted cells from normal and X-linked hypophosphatemic mice
    • Ecarot B., Glorieux F.H., Desbarats M., Travers R., Labelle L. Effect of 1,25-dihydroxyvitamin D3 treatment on bone formation by transplanted cells from normal and X-linked hypophosphatemic mice. J Bone Miner Res 1995, 10:424-431.
    • (1995) J Bone Miner Res , vol.10 , pp. 424-431
    • Ecarot, B.1    Glorieux, F.H.2    Desbarats, M.3    Travers, R.4    Labelle, L.5
  • 183
    • 0026736322 scopus 로고
    • Effect of dietary phosphate deprivation and supplementation of recipient mice on bone formation by transplanted cells from normal and X-linked hypophosphatemic mice
    • Ecarot B., Glorieux F.H., Desbarats M., Travers R., Labelle L. Effect of dietary phosphate deprivation and supplementation of recipient mice on bone formation by transplanted cells from normal and X-linked hypophosphatemic mice. J Bone Miner Res 1992, 7:523-530.
    • (1992) J Bone Miner Res , vol.7 , pp. 523-530
    • Ecarot, B.1    Glorieux, F.H.2    Desbarats, M.3    Travers, R.4    Labelle, L.5
  • 184
    • 0018485136 scopus 로고
    • Radiographic evidence of craniofacial and dental abnormalities in the X-linked hypophosphatemic mouse
    • Iorio R.J., Bell W.A., Meyer M.H., Meyer R.A. Radiographic evidence of craniofacial and dental abnormalities in the X-linked hypophosphatemic mouse. Ann Dent 1979, 38:31-37.
    • (1979) Ann Dent , vol.38 , pp. 31-37
    • Iorio, R.J.1    Bell, W.A.2    Meyer, M.H.3    Meyer, R.A.4
  • 185
    • 0018486643 scopus 로고
    • Histologic evidence of calcification abnormalities in teeth and alveolar bone of mice with X-linked dominant hypophosphatemia (VDRR)
    • Iorio R.J., Bell W.A., Meyer M.H., Meyer R.A. Histologic evidence of calcification abnormalities in teeth and alveolar bone of mice with X-linked dominant hypophosphatemia (VDRR). Ann Dent 1979, 38:38-44.
    • (1979) Ann Dent , vol.38 , pp. 38-44
    • Iorio, R.J.1    Bell, W.A.2    Meyer, M.H.3    Meyer, R.A.4
  • 186
    • 0020316692 scopus 로고
    • Naturally-occurring exposure of the dental pulp in mice with inherited hypophosphataemia
    • Sofaer J.A., Southam J.C. Naturally-occurring exposure of the dental pulp in mice with inherited hypophosphataemia. Arch Oral Biol 1982, 27:701-703.
    • (1982) Arch Oral Biol , vol.27 , pp. 701-703
    • Sofaer, J.A.1    Southam, J.C.2
  • 187
    • 0024757547 scopus 로고
    • Microscopic and crystallographic examinations of the teeth of the X-linked hypophosphatemic mouse
    • Abe K., Ooshima T., Masatomi Y., Sobue S., Moriwaki Y. Microscopic and crystallographic examinations of the teeth of the X-linked hypophosphatemic mouse. J Dent Res 1989, 68:1519-1524.
    • (1989) J Dent Res , vol.68 , pp. 1519-1524
    • Abe, K.1    Ooshima, T.2    Masatomi, Y.3    Sobue, S.4    Moriwaki, Y.5
  • 188
    • 0026827367 scopus 로고
    • The occurrence of interglobular dentin in incisors of hypophosphatemic mice fed a high-calcium and high-phosphate diet
    • Abe K., Masatomi Y., Nakajima Y. The occurrence of interglobular dentin in incisors of hypophosphatemic mice fed a high-calcium and high-phosphate diet. J Dental Res 1992, 71:478-483.
    • (1992) J Dental Res , vol.71 , pp. 478-483
    • Abe, K.1    Masatomi, Y.2    Nakajima, Y.3
  • 189
    • 0022568648 scopus 로고
    • Abnormal relationship between serum phosphate concentration and renal 25-hydroxycholecalciferol-1-alpha-hydroxylase activity in X-linked hypophosphatemic mice
    • Yamaoka K., Seino Y., Satomura K., Tanaka Y., Yabuuchi H., Haussier M.R. Abnormal relationship between serum phosphate concentration and renal 25-hydroxycholecalciferol-1-alpha-hydroxylase activity in X-linked hypophosphatemic mice. Miner Electrolyte Metab 1986, 12:194-198.
    • (1986) Miner Electrolyte Metab , vol.12 , pp. 194-198
    • Yamaoka, K.1    Seino, Y.2    Satomura, K.3    Tanaka, Y.4    Yabuuchi, H.5    Haussier, M.R.6
  • 190
    • 0025348984 scopus 로고
    • Abnormal regulation of renal vitamin D catabolism by dietary phosphate in murine X-linked hypophosphatemic rickets
    • Tenenhouse H.S., Jones G. Abnormal regulation of renal vitamin D catabolism by dietary phosphate in murine X-linked hypophosphatemic rickets. J Clin Invest 1990, 85:1450-1455.
    • (1990) J Clin Invest , vol.85 , pp. 1450-1455
    • Tenenhouse, H.S.1    Jones, G.2
  • 191
    • 0028218006 scopus 로고
    • 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
    • Roy S., Martel J., Ma S., Tenenhouse H.S. 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 1994, 134:1761-1767.
    • (1994) Endocrinology , vol.134 , pp. 1761-1767
    • Roy, S.1    Martel, J.2    Ma, S.3    Tenenhouse, H.S.4
  • 192
    • 0018961064 scopus 로고
    • Abnormal vitamin D metabolism in the X-linked hypophosphatemic mouse
    • Meyer R.A., Gray R.W., Meyer M.H. Abnormal vitamin D metabolism in the X-linked hypophosphatemic mouse. Endocrinology 1980, 107:1577-1581.
    • (1980) Endocrinology , vol.107 , pp. 1577-1581
    • Meyer, R.A.1    Gray, R.W.2    Meyer, M.H.3
  • 193
    • 0020683390 scopus 로고
    • Abnormal regulation of renal 25-hydroxyvitamin D-1 alpha-hydroxylase activity in the X-linked hypophosphatemic mouse
    • Lobaugh B., Drezner M.K. Abnormal regulation of renal 25-hydroxyvitamin D-1 alpha-hydroxylase activity in the X-linked hypophosphatemic mouse. J Clin Invest 1983, 71:400-403.
    • (1983) J Clin Invest , vol.71 , pp. 400-403
    • Lobaugh, B.1    Drezner, M.K.2
  • 194
    • 0029897627 scopus 로고    scopus 로고
    • Transcriptional regulation and renal localization of 1,25-dihydroxyvitamin D3-24-hydroxylase gene expression: effects of the Hyp mutation and 1,25-dihydroxyvitamin D3
    • Roy S., Tenenhouse H.S. Transcriptional regulation and renal localization of 1,25-dihydroxyvitamin D3-24-hydroxylase gene expression: effects of the Hyp mutation and 1,25-dihydroxyvitamin D3. Endocrinology 1996, 137:2938-2946.
    • (1996) Endocrinology , vol.137 , pp. 2938-2946
    • Roy, S.1    Tenenhouse, H.S.2
  • 195
    • 0027283517 scopus 로고
    • Renal adaptation to phosphate deprivation: lessons from the X-linked Hyp mouse
    • Tenenhouse H.S., Martel J. Renal adaptation to phosphate deprivation: lessons from the X-linked Hyp mouse. Pediatr Nephrol 1993, 7:312-318.
    • (1993) Pediatr Nephrol , vol.7 , pp. 312-318
    • Tenenhouse, H.S.1    Martel, J.2
  • 196
    • 0025601618 scopus 로고
    • Renal 25-hydroxyvitamin D-1 alpha-hydroxylase activity and mitochondrial phosphate transport in Hyp mice
    • Carpenter T.O., Shiratori T. Renal 25-hydroxyvitamin D-1 alpha-hydroxylase activity and mitochondrial phosphate transport in Hyp mice. Am J Physiol 1990, 259:E814-E821.
    • (1990) Am J Physiol , vol.259
    • Carpenter, T.O.1    Shiratori, T.2
  • 197
    • 0021382830 scopus 로고
    • Metabolism of 25-hydroxyvitamin D3 in renal slices from the X-linked hypophosphatemic (Hyp) mouse: abnormal response to fall in serum calcium
    • Tenenhouse H.S. Metabolism of 25-hydroxyvitamin D3 in renal slices from the X-linked hypophosphatemic (Hyp) mouse: abnormal response to fall in serum calcium. Cell Calcium 1984, 5:43-55.
    • (1984) Cell Calcium , vol.5 , pp. 43-55
    • Tenenhouse, H.S.1
  • 198
    • 0020566471 scopus 로고
    • Abnormal renal mitochondrial 25-hydroxyvitamin D3-1-hydroxylase activity in the vitamin D and calcium deficient X-linked Hyp mouse
    • Tenenhouse H.S. Abnormal renal mitochondrial 25-hydroxyvitamin D3-1-hydroxylase activity in the vitamin D and calcium deficient X-linked Hyp mouse. Endocrinology 1983, 113:816-818.
    • (1983) Endocrinology , vol.113 , pp. 816-818
    • Tenenhouse, H.S.1
  • 199
    • 0022569957 scopus 로고
    • Abnormal parathyroid hormone stimulation of 25-hydroxyvitamin D-1 alpha-hydroxylase activity in the hypophosphatemic mouse. Evidence for a generalized defect of vitamin D metabolism
    • Nesbitt T., Drezner M.K., Lobaugh B. Abnormal parathyroid hormone stimulation of 25-hydroxyvitamin D-1 alpha-hydroxylase activity in the hypophosphatemic mouse. Evidence for a generalized defect of vitamin D metabolism. J Clin Invest 1986, 77:181-187.
    • (1986) J Clin Invest , vol.77 , pp. 181-187
    • Nesbitt, T.1    Drezner, M.K.2    Lobaugh, B.3
  • 200
    • 0023140043 scopus 로고
    • Calcitonin stimulation of renal 25-hydroxyvitamin D-1 alpha-hydroxylase activity in hypophosphatemic mice. Evidence that the regulation of calcitriol production is not universally abnormal in X-linked hypophosphatemia
    • Nesbitt T., Lobaugh B., Drezner M.K. Calcitonin stimulation of renal 25-hydroxyvitamin D-1 alpha-hydroxylase activity in hypophosphatemic mice. Evidence that the regulation of calcitriol production is not universally abnormal in X-linked hypophosphatemia. J Clin Invest 1987, 79:15-19.
    • (1987) J Clin Invest , vol.79 , pp. 15-19
    • Nesbitt, T.1    Lobaugh, B.2    Drezner, M.K.3
  • 201
    • 0019487423 scopus 로고
    • Effect of 1,25-dihydroxyvitamin D3 on phosphate homeostasis in the X-linked hypophosphatemic (Hyp) mouse
    • Tenenhouse H.S., Scriver C.R. Effect of 1,25-dihydroxyvitamin D3 on phosphate homeostasis in the X-linked hypophosphatemic (Hyp) mouse. Endocrinology 1981, 109:658-660.
    • (1981) Endocrinology , vol.109 , pp. 658-660
    • Tenenhouse, H.S.1    Scriver, C.R.2
  • 202
    • 36049037977 scopus 로고    scopus 로고
    • Fibroblast growth factor 23 impairs phosphorus and vitamin D metabolism in vivo and suppresses 25-hydroxyvitamin D-1alpha-hydroxylase expression in vitro
    • Perwad F., Zhang M.Y., Tenenhouse H.S., Portale A.A. Fibroblast growth factor 23 impairs phosphorus and vitamin D metabolism in vivo and suppresses 25-hydroxyvitamin D-1alpha-hydroxylase expression in vitro. Am J Physiol Renal Physiol 2007, 293:F1577-F1583.
    • (2007) Am J Physiol Renal Physiol , vol.293
    • Perwad, F.1    Zhang, M.Y.2    Tenenhouse, H.S.3    Portale, A.A.4
  • 203
    • 0020527782 scopus 로고
    • Effects of phosphate and 1,25(OH)2D3 on in vitro bone collagen synthesis in the hypophosphatemic mouse
    • Ecarot-Charrier B., Glorieux F.H. Effects of phosphate and 1,25(OH)2D3 on in vitro bone collagen synthesis in the hypophosphatemic mouse. Calcif Tissue Int 1983, 35:383-391.
    • (1983) Calcif Tissue Int , vol.35 , pp. 383-391
    • Ecarot-charrier, B.1    Glorieux, F.H.2
  • 204
    • 0026627725 scopus 로고
    • Abnormal response of osteoblasts from Hyp mice to 1,25-dihydroxyvitamin D3
    • Yamamoto T., Ecarot B., Glorieux F.H. Abnormal response of osteoblasts from Hyp mice to 1,25-dihydroxyvitamin D3. Bone 1992, 13:209-215.
    • (1992) Bone , vol.13 , pp. 209-215
    • Yamamoto, T.1    Ecarot, B.2    Glorieux, F.H.3
  • 205
    • 0019890574 scopus 로고
    • Intestinal transport of phosphate anion is not impaired in the Hyp (hypophosphatemic) mouse
    • Tenenhouse H.S., Fast D.K., Scriver C.R., Koltay M. Intestinal transport of phosphate anion is not impaired in the Hyp (hypophosphatemic) mouse. Biochem Biophys Res Commun 1981, 100:537-543.
    • (1981) Biochem Biophys Res Commun , vol.100 , pp. 537-543
    • Tenenhouse, H.S.1    Fast, D.K.2    Scriver, C.R.3    Koltay, M.4
  • 206
    • 0027739653 scopus 로고
    • Sodium-phosphate transport in the kidney and intestine of the hypophosphatemic mouse
    • Nakagawa N., Ghishan F.K. Sodium-phosphate transport in the kidney and intestine of the hypophosphatemic mouse. Pediatr Nephrol 1993, 7:815-818.
    • (1993) Pediatr Nephrol , vol.7 , pp. 815-818
    • Nakagawa, N.1    Ghishan, F.K.2
  • 207
    • 0023734477 scopus 로고
    • Malabsorption of phosphate by the intestines of young X-linked hypophosphatemic mice
    • Brault B.A., Meyer M.H., Meyer R.A. Malabsorption of phosphate by the intestines of young X-linked hypophosphatemic mice. Calcif Tissue Int 1988, 43:289-293.
    • (1988) Calcif Tissue Int , vol.43 , pp. 289-293
    • Brault, B.A.1    Meyer, M.H.2    Meyer, R.A.3
  • 208
    • 0021123285 scopus 로고
    • A role for the intestine in the bone disease of juvenile X-linked hypophosphatemic mice: malabsorption of calcium and reduced skeletal mineralization
    • Meyer M.H., Meyer R.A., Iorio R.J. A role for the intestine in the bone disease of juvenile X-linked hypophosphatemic mice: malabsorption of calcium and reduced skeletal mineralization. Endocrinology 1984, 115:1464-1470.
    • (1984) Endocrinology , vol.115 , pp. 1464-1470
    • Meyer, M.H.1    Meyer, R.A.2    Iorio, R.J.3
  • 209
    • 0022559692 scopus 로고
    • Reduced absorption of 45calcium from isolated duodenal segments in vivo in juvenile but not adult X-linked hypophosphatemic mice
    • Meyer R.A., Meyer M.H., Erickson P.R., Korkor A.B. Reduced absorption of 45calcium from isolated duodenal segments in vivo in juvenile but not adult X-linked hypophosphatemic mice. Calcif Tissue Int 1986, 38:95-102.
    • (1986) Calcif Tissue Int , vol.38 , pp. 95-102
    • Meyer, R.A.1    Meyer, M.H.2    Erickson, P.R.3    Korkor, A.B.4
  • 210
    • 0021169428 scopus 로고
    • Low levels of intestinal vitamin D-dependent calcium-binding protein in juvenile X-linked hypophosphatemic mice
    • Bruns M.E., Meyer R.A., Meyer M.H. Low levels of intestinal vitamin D-dependent calcium-binding protein in juvenile X-linked hypophosphatemic mice. Endocrinology 1984, 115:1459-1463.
    • (1984) Endocrinology , vol.115 , pp. 1459-1463
    • Bruns, M.E.1    Meyer, R.A.2    Meyer, M.H.3
  • 211
    • 0023261592 scopus 로고
    • Vitamin D-dependent calcium binding proteins in the kidney and intestine of the X-linked hypophosphatemic mouse: changes with age and responses to 1,25-dihydroxycholecalciferol
    • Bruns M.E., Christakos S., Huang Y.C., Meyer M.H., Meyer R.A. Vitamin D-dependent calcium binding proteins in the kidney and intestine of the X-linked hypophosphatemic mouse: changes with age and responses to 1,25-dihydroxycholecalciferol. Endocrinology 1987, 121:1-6.
    • (1987) Endocrinology , vol.121 , pp. 1-6
    • Bruns, M.E.1    Christakos, S.2    Huang, Y.C.3    Meyer, M.H.4    Meyer, R.A.5
  • 212
    • 0020163455 scopus 로고
    • I Alpha, 25-dihydroxyvitamin D3 receptor in the X-linked hypophosphatemic mouse
    • Seino Y., Sierra R.I., Ichikawa M., Avioli L.V. I Alpha, 25-dihydroxyvitamin D3 receptor in the X-linked hypophosphatemic mouse. Endocrinology 1982, 111:329-331.
    • (1982) Endocrinology , vol.111 , pp. 329-331
    • Seino, Y.1    Sierra, R.I.2    Ichikawa, M.3    Avioli, L.V.4
  • 213
    • 0026457897 scopus 로고
    • 1,25-Dihydroxyvitamin D3 does not up-regulate vitamin D receptor messenger ribonucleic acid levels in hypophosphatemic mice
    • Nakajima S., Yamaoka K., Okada S., Pike J.W., Seino Y., Haussier M.R. 1,25-Dihydroxyvitamin D3 does not up-regulate vitamin D receptor messenger ribonucleic acid levels in hypophosphatemic mice. Bone Miner 1992, 19:201-213.
    • (1992) Bone Miner , vol.19 , pp. 201-213
    • Nakajima, S.1    Yamaoka, K.2    Okada, S.3    Pike, J.W.4    Seino, Y.5    Haussier, M.R.6
  • 214
    • 0023281635 scopus 로고
    • Evidence that low plasma 1,25-dihydroxyvitamin D causes intestinal malabsorption of calcium and phosphate in juvenile X-linked hypophosphatemic mice
    • Meyer R.A., Meyer M.H., Gray R.W., Bruns M.E. Evidence that low plasma 1,25-dihydroxyvitamin D causes intestinal malabsorption of calcium and phosphate in juvenile X-linked hypophosphatemic mice. J Bone Miner Res 1987, 2:67-82.
    • (1987) J Bone Miner Res , vol.2 , pp. 67-82
    • Meyer, R.A.1    Meyer, M.H.2    Gray, R.W.3    Bruns, M.E.4
  • 215
    • 0022346777 scopus 로고
    • Decreased nuclear uptake of 1,25-dihydroxyvitamin D3 by duodenal mucosal cells in the X-linked hypophosphatemic mouse
    • Yamamoto T., Seino Y., Yamaoka K., Yabuuchi H. Decreased nuclear uptake of 1,25-dihydroxyvitamin D3 by duodenal mucosal cells in the X-linked hypophosphatemic mouse. Endocrinology 1985, 117:2252-2254.
    • (1985) Endocrinology , vol.117 , pp. 2252-2254
    • Yamamoto, T.1    Seino, Y.2    Yamaoka, K.3    Yabuuchi, H.4
  • 216
    • 0023876367 scopus 로고
    • Effects of the administration of phosphate on nuclear 1,25-dihydroxyvitamin D3 uptake by duodenal mucosal cells of Hyp mice
    • Yamamoto T., Seino Y., Tanaka H., et al. Effects of the administration of phosphate on nuclear 1,25-dihydroxyvitamin D3 uptake by duodenal mucosal cells of Hyp mice. Endocrinology 1988, 122:576-580.
    • (1988) Endocrinology , vol.122 , pp. 576-580
    • Yamamoto, T.1    Seino, Y.2    Tanaka, H.3
  • 217
    • 0030586965 scopus 로고    scopus 로고
    • CDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone
    • Du L., Desbarats M., Viel J., Glorieux F.H., Cawthorn C., Ecarot B. cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone. Genomics 1996, 36:22-28.
    • (1996) Genomics , vol.36 , pp. 22-28
    • Du, L.1    Desbarats, M.2    Viel, J.3    Glorieux, F.H.4    Cawthorn, C.5    Ecarot, B.6
  • 218
    • 0030615069 scopus 로고    scopus 로고
    • Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia
    • Strom T.M., Francis F., Lorenz B., et al. Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia. Hum Mol Genet 1997, 6:165-171.
    • (1997) Hum Mol Genet , vol.6 , pp. 165-171
    • Strom, T.M.1    Francis, F.2    Lorenz, B.3
  • 219
    • 0030954146 scopus 로고    scopus 로고
    • Cloning and sequencing of human PEX from a bone cDNA library: evidence for its developmental state-specific regulation in osteoblasts
    • Guo R., Quarles L.D. Cloning and sequencing of human PEX from a bone cDNA library: evidence for its developmental state-specific regulation in osteoblasts. J Bone Miner Res 1997, 12:1009-1017.
    • (1997) J Bone Miner Res , vol.12 , pp. 1009-1017
    • Guo, R.1    Quarles, L.D.2
  • 220
    • 0032810056 scopus 로고    scopus 로고
    • Evidence for Phex haploinsufficiency in murine X-linked hypophosphatemia
    • Wang L., Du L., Ecarot B. Evidence for Phex haploinsufficiency in murine X-linked hypophosphatemia. Mamm Genome 1999, 10:385-389.
    • (1999) Mamm Genome , vol.10 , pp. 385-389
    • Wang, L.1    Du, L.2    Ecarot, B.3
  • 221
    • 0031239359 scopus 로고    scopus 로고
    • Sequence analysis of 139 kb in Xp22.1 containing spermine synthase and the 5' region of PEX
    • Grieff M., Whyte M.P., Thakker R.V., Mazzarella R. Sequence analysis of 139 kb in Xp22.1 containing spermine synthase and the 5' region of PEX. Genomics 1997, 44:227-231.
    • (1997) Genomics , vol.44 , pp. 227-231
    • Grieff, M.1    Whyte, M.P.2    Thakker, R.V.3    Mazzarella, R.4
  • 222
    • 6844240235 scopus 로고    scopus 로고
    • Spermine deficiency in Gy mice caused by deletion of the spermine synthase gene
    • Lorenz B., Francis F., Gempel K., et al. Spermine deficiency in Gy mice caused by deletion of the spermine synthase gene. Hum Mol Genet 1998, 7:541-547.
    • (1998) Hum Mol Genet , vol.7 , pp. 541-547
    • Lorenz, B.1    Francis, F.2    Gempel, K.3
  • 223
    • 0344624870 scopus 로고    scopus 로고
    • Partial deletion of both the spermine synthase gene and the Pex gene in the X-linked hypophosphatemic, gyro (Gy) mouse
    • Meyer R.A., Henley C.M., Meyer M.H., et al. Partial deletion of both the spermine synthase gene and the Pex gene in the X-linked hypophosphatemic, gyro (Gy) mouse. Genomics 1998, 48:289-295.
    • (1998) Genomics , vol.48 , pp. 289-295
    • Meyer, R.A.1    Henley, C.M.2    Meyer, M.H.3
  • 224
    • 0033915030 scopus 로고    scopus 로고
    • Developmental expression and tissue distribution of Phex protein: effect of the Hyp mutation and relationship to bone markers
    • Ruchon A.F., Tenenhouse H.S., Marcinkiewicz M., et al. Developmental expression and tissue distribution of Phex protein: effect of the Hyp mutation and relationship to bone markers. J Bone Miner Res 2000, 15:1440-1450.
    • (2000) J Bone Miner Res , vol.15 , pp. 1440-1450
    • Ruchon, A.F.1    Tenenhouse, H.S.2    Marcinkiewicz, M.3
  • 225
    • 0032577463 scopus 로고    scopus 로고
    • Cloning of human PEX cDNA. Expression, subcellular localization, and endopeptidase activity
    • Lipman M.L., Panda D., Bennett H.P., et al. Cloning of human PEX cDNA. Expression, subcellular localization, and endopeptidase activity. J Biol Chem 1998, 273:13729-13737.
    • (1998) J Biol Chem , vol.273 , pp. 13729-13737
    • Lipman, M.L.1    Panda, D.2    Bennett, H.P.3
  • 226
    • 0031896742 scopus 로고    scopus 로고
    • Pex mRNA is localized in developing mouse osteoblasts and odontoblasts
    • Ruchon A.F., Marcinkiewicz M., Siegfried G., et al. Pex mRNA is localized in developing mouse osteoblasts and odontoblasts. J Histochem Cytochem 1998, 46:459-468.
    • (1998) J Histochem Cytochem , vol.46 , pp. 459-468
    • Ruchon, A.F.1    Marcinkiewicz, M.2    Siegfried, G.3
  • 227
    • 0032963140 scopus 로고    scopus 로고
    • 1,25-(OH)2D3 down-regulates expression of Phex, a marker of the mature osteoblast
    • Ecarot B., Desbarats M. 1,25-(OH)2D3 down-regulates expression of Phex, a marker of the mature osteoblast. Endocrinology 1999, 140:1192-1199.
    • (1999) Endocrinology , vol.140 , pp. 1192-1199
    • Ecarot, B.1    Desbarats, M.2
  • 229
    • 0032781733 scopus 로고    scopus 로고
    • PHEX expression in parathyroid gland and parathyroid hormone dysregulation in X-linked hypophosphatemia
    • Blydt-Hansen T.D., Tenenhouse H.S., Goodyer P. PHEX expression in parathyroid gland and parathyroid hormone dysregulation in X-linked hypophosphatemia. Pediatr Nephrol 1999, 13:607-611.
    • (1999) Pediatr Nephrol , vol.13 , pp. 607-611
    • Blydt-hansen, T.D.1    Tenenhouse, H.S.2    Goodyer, P.3
  • 230
    • 0033930433 scopus 로고    scopus 로고
    • The effects of bone marrow transplantation on X-linked hypophosphatemic mice
    • Miyamura T., Tanaka H., Inoue M., Ichinose Y., Seino Y. The effects of bone marrow transplantation on X-linked hypophosphatemic mice. J Bone Miner Res 2000, 15:1451-1458.
    • (2000) J Bone Miner Res , vol.15 , pp. 1451-1458
    • Miyamura, T.1    Tanaka, H.2    Inoue, M.3    Ichinose, Y.4    Seino, Y.5
  • 231
    • 0036479315 scopus 로고    scopus 로고
    • Overexpression of Phex in osteoblasts fails to rescue the Hyp mouse phenotype
    • Liu S., Guo R., Tu Q., Quarles L.D. Overexpression of Phex in osteoblasts fails to rescue the Hyp mouse phenotype. J Biol Chem 2002, 277:3686-3697.
    • (2002) J Biol Chem , vol.277 , pp. 3686-3697
    • Liu, S.1    Guo, R.2    Tu, Q.3    Quarles, L.D.4
  • 232
    • 59449106235 scopus 로고    scopus 로고
    • The PHEX transgene corrects mineralization defects in 9-month-old hypophosphatemic mice
    • Boskey A., Frank A., Fujimoto Y., et al. The PHEX transgene corrects mineralization defects in 9-month-old hypophosphatemic mice. Calcif Tissue Int 2009, 84:126-137.
    • (2009) Calcif Tissue Int , vol.84 , pp. 126-137
    • Boskey, A.1    Frank, A.2    Fujimoto, Y.3
  • 233
    • 0035878581 scopus 로고    scopus 로고
    • Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein
    • Sabbagh Y., Boileau G., DesGroseillers L., Tenenhouse H.S. Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein. Hum Mol Genet 2001, 10:1539-1546.
    • (2001) Hum Mol Genet , vol.10 , pp. 1539-1546
    • Sabbagh, Y.1    Boileau, G.2    DesGroseillers, L.3    Tenenhouse, H.S.4
  • 234
    • 0035340784 scopus 로고    scopus 로고
    • Characterization of PHEX endopeptidase catalytic activity: identification of parathyroid-hormone-related peptide 107-139 as a substrate and osteocalcin, PPi and phosphate as inhibitors
    • Boileau G., Tenenhouse H.S., Desgroseillers L., Crine P. Characterization of PHEX endopeptidase catalytic activity: identification of parathyroid-hormone-related peptide 107-139 as a substrate and osteocalcin, PPi and phosphate as inhibitors. Biochem J 2001, 355:707-713.
    • (2001) Biochem J , vol.355 , pp. 707-713
    • Boileau, G.1    Tenenhouse, H.S.2    Desgroseillers, L.3    Crine, P.4
  • 235
    • 0141844575 scopus 로고    scopus 로고
    • Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX
    • Liu S., Guo R., Simpson L.G., Xiao Z.S., Burnham C.E., Quarles L.D. Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX. J Biol Chem 2003, 278:37419-37426.
    • (2003) J Biol Chem , vol.278 , pp. 37419-37426
    • Liu, S.1    Guo, R.2    Simpson, L.G.3    Xiao, Z.S.4    Burnham, C.E.5    Quarles, L.D.6
  • 236
    • 84882909079 scopus 로고    scopus 로고
    • Phex mutations in a murine model of X-linked hypophosphatemia result in impaired phosphate sensing
    • Available at, Accessed February 10, 2011
    • Ichikawa S., Austin A.M., Gray A.K., Econs M. Phex mutations in a murine model of X-linked hypophosphatemia result in impaired phosphate sensing. J Bone Miner Res 2010, 25(S1). Available at, Accessed February 10, 2011. http://www.asbmr.org/Meetings/AnnualMeeting/AbstractDetail.aspx?aid=3e23 c74e-dd91-461b-b631-4fc47be274a9.
    • (2010) J Bone Miner Res , vol.25 , Issue.S1
    • Ichikawa, S.1    Austin, A.M.2    Gray, A.K.3    Econs, M.4
  • 237
    • 77951626687 scopus 로고    scopus 로고
    • Treatment of X-linked hypophosphatemia with calcitriol and phosphate increases circulating fibroblast growth factor 23 concentrations
    • Imel E.A., DiMeglio L.A., Hui S.L., Carpenter T.O., Econs M.J. Treatment of X-linked hypophosphatemia with calcitriol and phosphate increases circulating fibroblast growth factor 23 concentrations. J Clin Endocrinol Metab 2010, 95:1846-1850.
    • (2010) J Clin Endocrinol Metab , vol.95 , pp. 1846-1850
    • Imel, E.A.1    DiMeglio, L.A.2    Hui, S.L.3    Carpenter, T.O.4    Econs, M.J.5
  • 238
    • 78049511826 scopus 로고    scopus 로고
    • Circulating levels of soluble klotho and FGF-23 in X-linked hypophosphatemia: circadian variance, effects of treatment, and relationship to parathyroid status
    • Carpenter T.O., Insogna K.L., Zhang J.H., et al. Circulating levels of soluble klotho and FGF-23 in X-linked hypophosphatemia: circadian variance, effects of treatment, and relationship to parathyroid status. J Clin Endocrinol Metab 2010, 95:E352-E357.
    • (2010) J Clin Endocrinol Metab , vol.95
    • Carpenter, T.O.1    Insogna, K.L.2    Zhang, J.H.3
  • 239
    • 0031452349 scopus 로고    scopus 로고
    • Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13
    • Econs M.J., McEnery P.T., Lennon F., Speer M.C. Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13. J Clin Invest 1997, 100:2653-2657.
    • (1997) J Clin Invest , vol.100 , pp. 2653-2657
    • Econs, M.J.1    McEnery, P.T.2    Lennon, F.3    Speer, M.C.4
  • 241
    • 84882822639 scopus 로고    scopus 로고
    • Elevated mRNA gene expression of fibroblast growth factor 23 (FGF-23) in the thymus of X-linked hypophosphatemic (Hyp) mice
    • Available at: Accessed February 10, 2011
    • Meyer R.A. Elevated mRNA gene expression of fibroblast growth factor 23 (FGF-23) in the thymus of X-linked hypophosphatemic (Hyp) mice. J Bone Miner Res 2001, 16(S251). Available at: http://www.abstractsonline.com/viewer/viewAbstractPrintFriendly.asp?CKey ={F45961FC-93EF-4C35-86A5-B4796302EA43}&SKey={EB5BC322-4BB8-47A0-92C 9-F1C5DE967B90}&MKey=A3C75A6C-2DD6-4EB3-9C22-D35081DC2990&AKey={ D0C01D4F-E23B-45E2-ACD4-0AF8AC866B8B} Accessed February 10, 2011.
    • (2001) J Bone Miner Res , vol.16 , Issue.S251
    • Meyer, R.A.1
  • 243
    • 0033452452 scopus 로고    scopus 로고
    • Proprotein and prohormone convertases: a family of subtilases generating diverse bioactive polypeptides
    • Seidah N.G., Chretien M. Proprotein and prohormone convertases: a family of subtilases generating diverse bioactive polypeptides. Brain Res 1999, 848:45-62.
    • (1999) Brain Res , vol.848 , pp. 45-62
    • Seidah, N.G.1    Chretien, M.2
  • 244
    • 33646578195 scopus 로고    scopus 로고
    • Regulation of fibroblast growth factor-23 signaling by klotho
    • Kurosu H., Ogawa Y., Miyoshi M., et al. Regulation of fibroblast growth factor-23 signaling by klotho. J Biol Chem 2006, 281:6120-6123.
    • (2006) J Biol Chem , vol.281 , pp. 6120-6123
    • Kurosu, H.1    Ogawa, Y.2    Miyoshi, M.3
  • 245
    • 0030724491 scopus 로고    scopus 로고
    • Mutation of the mouse klotho gene leads to a syndrome resembling ageing
    • Kuro-o M., Matsumura Y., Aizawa H., et al. Mutation of the mouse klotho gene leads to a syndrome resembling ageing. Nature 1997, 390:45-51.
    • (1997) Nature , vol.390 , pp. 45-51
    • Kuro-o, M.1    Matsumura, Y.2    Aizawa, H.3
  • 246
    • 58349115748 scopus 로고    scopus 로고
    • The Klotho gene family as a regulator of endocrine fibroblast growth factors
    • Kurosu H., Kuro-O M. The Klotho gene family as a regulator of endocrine fibroblast growth factors. Mol Cell Endocrinol 2009, 299:72-78.
    • (2009) Mol Cell Endocrinol , vol.299 , pp. 72-78
    • Kurosu, H.1    Kuro-o, M.2
  • 247
    • 33646238028 scopus 로고    scopus 로고
    • Premature aging-like phenotype in fibroblast growth factor 23 null mice is a vitamin D mediated process
    • Razzaque M.S., 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 2006, 20:720-722.
    • (2006) FASEB J , vol.20 , pp. 720-722
    • Razzaque, M.S.1    Sitara, D.2    Taguchi, T.3    St-arnaud, R.4    Lanske, B.5
  • 248
    • 34848871595 scopus 로고    scopus 로고
    • A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis
    • Ichikawa S., Imel E.A., Kreiter M.L., et al. A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. J Clin Invest 2007, 117:2684-2691.
    • (2007) J Clin Invest , vol.117 , pp. 2684-2691
    • Ichikawa, S.1    Imel, E.A.2    Kreiter, M.L.3
  • 249
    • 42149130855 scopus 로고    scopus 로고
    • A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism
    • Brownstein C.A., Adler F., Nelson-Williams C., et al. A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism. Proc Natl Acad Sci USA 2008, 105:3455-3460.
    • (2008) Proc Natl Acad Sci USA , vol.105 , pp. 3455-3460
    • Brownstein, C.A.1    Adler, F.2    Nelson-williams, C.3
  • 251
    • 33845631059 scopus 로고    scopus 로고
    • Klotho converts canonical FGF receptor into a specific receptor for FGF-23
    • Urakawa I., Yamazaki Y., Shimada T., et al. Klotho converts canonical FGF receptor into a specific receptor for FGF-23. Nature 2006, 444:770-774.
    • (2006) Nature , vol.444 , pp. 770-774
    • Urakawa, I.1    Yamazaki, Y.2    Shimada, T.3
  • 252
    • 80053212761 scopus 로고    scopus 로고
    • Compound deletion of Fgfr3 and Fgfr4 partially rescues the Hyp mouse phenotype
    • [Epub ahead of print.], Dec 7.
    • Li H., Martin A.C., David V., Quarles L.D. Compound deletion of Fgfr3 and Fgfr4 partially rescues the Hyp mouse phenotype. Am J Physiol Endocrinol Metab 2010;Dec 7., [Epub ahead of print.].
    • (2010) Am J Physiol Endocrinol Metab
    • Li, H.1    Martin, A.C.2    David, V.3    Quarles, L.D.4
  • 253
    • 0032574725 scopus 로고    scopus 로고
    • Amizuka N, Hewson AS, Ozawa H, Tenenhouse HS. Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities
    • Beck L., Karaplis A.C. Amizuka N, Hewson AS, Ozawa H, Tenenhouse HS. Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities. Proc Natl Acad Sci USA 1998, 95:5372-5377.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 5372-5377
    • Beck, L.1    Karaplis, A.C.2
  • 254
    • 77957259458 scopus 로고    scopus 로고
    • The receptor-dependent actions of 1,25-dihydroxyvitamin D are required for normal growth plate maturation in NPt2a knockout mice
    • Miedlich S.U., Zhu E.D., Sabbagh Y., Demay M.B. The receptor-dependent actions of 1,25-dihydroxyvitamin D are required for normal growth plate maturation in NPt2a knockout mice. Endocrinology 2010, 151:4607-4612.
    • (2010) Endocrinology , vol.151 , pp. 4607-4612
    • Miedlich, S.U.1    Zhu, E.D.2    Sabbagh, Y.3    Demay, M.B.4
  • 255
    • 31544481921 scopus 로고    scopus 로고
    • 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
    • Bergwitz C., Roslin N.M., Tieder M., et al. 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 Genet 2006, 78:179-192.
    • (2006) Am J Hum Genet , vol.78 , pp. 179-192
    • Bergwitz, C.1    Roslin, N.M.2    Tieder, M.3
  • 256
    • 72049102165 scopus 로고    scopus 로고
    • Intestinal npt2b plays a major role in phosphate absorption and homeostasis
    • Sabbagh Y., O'Brien S.P., Song W., et al. Intestinal npt2b plays a major role in phosphate absorption and homeostasis. J Am Soc Nephrol 2009, 20:2348-2358.
    • (2009) J Am Soc Nephrol , vol.20 , pp. 2348-2358
    • Sabbagh, Y.1    O'Brien, S.P.2    Song, W.3
  • 257
    • 33749008222 scopus 로고    scopus 로고
    • Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis
    • Corut A., Senyigit A., Ugur S.A., et al. Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis. Am J Hum Genet 2006, 79:650-656.
    • (2006) Am J Hum Genet , vol.79 , pp. 650-656
    • Corut, A.1    Senyigit, A.2    Ugur, S.A.3
  • 258
    • 58149394434 scopus 로고    scopus 로고
    • Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen's metaphyseal chondrodysplasia
    • Brown W.W., Jüppner H., Langman C.B., et al. Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen's metaphyseal chondrodysplasia. J Clin Endocrinol Metab 2009, 94:17-20.
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 17-20
    • Brown, W.W.1    Jüppner, H.2    Langman, C.B.3
  • 259
    • 51649110710 scopus 로고    scopus 로고
    • NHERF1 mutations and responsiveness of renal parathyroid hormone
    • Karim Z., Gérard B., Bakouh N., et al. NHERF1 mutations and responsiveness of renal parathyroid hormone. N Engl J Med 2008, 359:1128-1135.
    • (2008) N Engl J Med , vol.359 , pp. 1128-1135
    • Karim, Z.1    Gérard, B.2    Bakouh, N.3
  • 260
    • 65649103814 scopus 로고    scopus 로고
    • Initial FGF-23-mediated signaling occurs in the distal convoluted tubule
    • Farrow E.G., Davis S.I., Summers L.J., White K.E. Initial FGF-23-mediated signaling occurs in the distal convoluted tubule. J Am Soc Nephrol 2009, 20:955-960.
    • (2009) J Am Soc Nephrol , vol.20 , pp. 955-960
    • Farrow, E.G.1    Davis, S.I.2    Summers, L.J.3    White, K.E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.