-
1
-
-
0017584263
-
The pathophysiology and clinical characteristics of severe hypophosphatemia
-
Knochel JP. The pathophysiology and clinical characteristics of severe hypophosphatemia. Arch Intern Med 1977; 137: 203-20.
-
(1977)
Arch Intern Med
, vol.137
, pp. 203-220
-
-
Knochel, J.P.1
-
2
-
-
0035018062
-
Phosphate, the renal tubule, and the musculoskeletal system
-
Laroche M. Phosphate, the renal tubule, and the musculoskeletal system. Joint Bone Spine 2001; 68: 211-15.
-
(2001)
Joint Bone Spine
, vol.68
, pp. 211-215
-
-
Laroche, M.1
-
3
-
-
0014426321
-
There is evidence for a phosphorus depletion syndrome in man
-
Lotz M, Zisman E, Bartter FC. There is evidence for a phosphorus depletion syndrome in man. N Engl J Med 1968; 278: 409-14.
-
(1968)
N Engl J Med
, vol.278
, pp. 409-414
-
-
Lotz, M.1
Zisman, E.2
Bartter, F.C.3
-
8
-
-
0942279588
-
Renal phosphate wasting disorders: Clinical features and pathogenesis
-
Brame LA, White KE, Econs MJ. Renal phosphate wasting disorders: clinical features and pathogenesis. Semin Nephrol 2004; 24: 39-47.
-
(2004)
Semin Nephrol
, vol.24
, pp. 39-47
-
-
Brame, L.A.1
White, K.E.2
Econs, M.J.3
-
10
-
-
0027283517
-
Renal adaptation to phosphate deprivation: Lessons from the X-linked Hyp mouse
-
Tenenhouse HS, Martel J. Renal adaptation to phosphate deprivation: lessons from the X-linked Hyp mouse. Pediatr Nephrol 1993; 7: 312-18.
-
(1993)
Pediatr Nephrol
, vol.7
, pp. 312-318
-
-
Tenenhouse, H.S.1
Martel, J.2
-
11
-
-
0029160578
-
A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium
-
Francis F, Hennig S, Korn B, Reinhardt R, de Jong P, Poustka A et al. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium. Nat Genet 1995; 11: 130-6.
-
(1995)
Nat Genet
, vol.11
, pp. 130-136
-
-
Francis, F.1
Hennig, S.2
Korn, B.3
Reinhardt, R.4
De Jong, P.5
Poustka, A.6
-
12
-
-
0027177179
-
Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies
-
Scheinman SJ, Pook MA, Wooding C, Pang JT, Frymoyer PA, Thakker RV. Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies. J Clin Invest 1993; 91: 2351-7.
-
(1993)
J Clin Invest
, vol.91
, pp. 2351-2357
-
-
Scheinman, S.J.1
Pook, M.A.2
Wooding, C.3
Pang, J.T.4
Frymoyer, P.A.5
Thakker, R.V.6
-
13
-
-
15644362412
-
Mutational analysis of PHEX gene in X-linked hypophosphatemia
-
Dixon P, Christie PT, Wooding C, Trump D, Grieff M, Holm I et al. Mutational analysis of PHEX gene in X-linked hypophosphatemia. J Clin Endocrinol Metab 1998; 83: 3615-23.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 3615-3623
-
-
Dixon, P.1
Christie, P.T.2
Wooding, C.3
Trump, D.4
Grieff, M.5
Holm, I.6
-
14
-
-
0030938927
-
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, Krishnamurthy G, Gauthier C, Goddyer CG 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: 1200-9.
-
(1997)
J Clin Invest
, vol.99
, pp. 1200-1209
-
-
Beck, L.1
Soumounou, Y.2
Martel, J.3
Krishnamurthy, G.4
Gauthier, C.5
Goddyer, C.G.6
-
15
-
-
0038678168
-
FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralization
-
Quarles LD. FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralization. Am J Physiol Endocrinol Metabol 2003; 285: E1-E9.
-
(2003)
Am J Physiol Endocrinol Metabol
, vol.285
-
-
Quarles, L.D.1
-
16
-
-
0034805353
-
FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate
-
Bowe AE, Finnegan R, Jan de Beur SM, Cho J, Levine MA, Kumar R et al. FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate. Biochem Biophys Res Commun 2001; 284: 977-81.
-
(2001)
Biochem Biophys Res Commun
, vol.284
, pp. 977-981
-
-
Bowe, A.E.1
Finnegan, R.2
Jan De Beur, S.M.3
Cho, J.4
Levine, M.A.5
Kumar, R.6
-
18
-
-
0034889880
-
Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets
-
Holm IA, Nelson AE, Robinson BG, Mason RS, Marsh DJ, Cowell CT et al. Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. J Clin Endocrinol Metabol 2001; 86: 3889-99.
-
(2001)
J Clin Endocrinol Metabol
, vol.86
, pp. 3889-3899
-
-
Holm, I.A.1
Nelson, A.E.2
Robinson, B.G.3
Mason, R.S.4
Marsh, D.J.5
Cowell, C.T.6
-
19
-
-
0037322690
-
Prolonged high-dose phosphate treatment: A risk factor for tertiary hyperparathyroidism in X-linked hypophosphatemic rickets
-
Makitie O, Kooh SW, Sochett E. Prolonged high-dose phosphate treatment: a risk factor for tertiary hyperparathyroidism in X-linked hypophosphatemic rickets. Clin Endocrinol 2003; 58: 163-8.
-
(2003)
Clin Endocrinol
, vol.58
, pp. 163-168
-
-
Makitie, O.1
Kooh, S.W.2
Sochett, E.3
-
20
-
-
0026410073
-
Effects of therapy in X-linked hypophosphatemic rickets
-
Verge CE, Lam A, Simpson JM, Cowell CT, Howard NJ, Silink M. Effects of therapy in X-linked hypophosphatemic rickets. N Engl J Med 1991; 325: 1843-8.
-
(1991)
N Engl J Med
, vol.325
, pp. 1843-1848
-
-
Verge, C.E.1
Lam, A.2
Simpson, J.M.3
Cowell, C.T.4
Howard, N.J.5
Silink, M.6
-
21
-
-
0033670343
-
Effect of dipyridamole on serum and urinary phosphate in X-linked hypophosphatemia
-
Seikaly MG, Quigley R, Baum M. Effect of dipyridamole on serum and urinary phosphate in X-linked hypophosphatemia. Pediatr Nephrol 2000 15: 57-9.
-
(2000)
Pediatr Nephrol
, vol.15
, pp. 57-59
-
-
Seikaly, M.G.1
Quigley, R.2
Baum, M.3
-
22
-
-
0031777235
-
Dipyridamole decreases renal phosphate leak and augments serum phosphorus in patients with low renal phosphate threshold
-
Prie D, Blanchet FB, Essig M, Jourdain JP, Friedlander G. Dipyridamole decreases renal phosphate leak and augments serum phosphorus in patients with low renal phosphate threshold. J Am Soc Nephrol 1998; 9: 1264-9.
-
(1998)
J Am Soc Nephrol
, vol.9
, pp. 1264-1269
-
-
Prie, D.1
Blanchet, F.B.2
Essig, M.3
Jourdain, J.P.4
Friedlander, G.5
-
23
-
-
0031452349
-
Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13
-
Econs MJ, McEnery PT, Lennon F, Speer M. Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13. J Clin Invest 1997; 100: 2653-7.
-
(1997)
J Clin Invest
, vol.100
, pp. 2653-2657
-
-
Econs, M.J.1
McEnery, P.T.2
Lennon, F.3
Speer, M.4
-
24
-
-
0035991920
-
Is FGF 23 the long sought after phosphaturic factor phosphatonin?
-
Silve C, Beck L. Is FGF 23 the long sought after phosphaturic factor phosphatonin? Nephrol Dial Transplant 2002; 17: 958-61.
-
(2002)
Nephrol Dial Transplant
, vol.17
, pp. 958-961
-
-
Silve, C.1
Beck, L.2
-
25
-
-
18744371012
-
Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia
-
Yamazaki Y, Okazaki R, Shibata M, Hasegawa Y, Satoh K, Tajima T et al. Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia. J Clin Endocrinol Metab 2002; 87: 4957-60.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 4957-4960
-
-
Yamazaki, Y.1
Okazaki, R.2
Shibata, M.3
Hasegawa, Y.4
Satoh, K.5
Tajima, T.6
-
26
-
-
0022002364
-
Hereditary hypophosphatemic rickets with hypercalciuria
-
Tieder M, Modai D, Samuel R, Arie R, Halabe A, Bab I, Gabizon D, Liberman UA. Hereditary hypophosphatemic rickets with hypercalciuria. N Engl J Med 1985; 312: 611-17.
-
(1985)
N Engl J Med
, vol.312
, pp. 611-617
-
-
Tieder, M.1
Modai, D.2
Samuel, R.3
Arie, R.4
Halabe, A.5
Bab, I.6
Gabizon, D.7
Liberman, U.A.8
-
27
-
-
0028181761
-
Cloning of a Na/Pi cotransporter from opossum kidney cells
-
Sorribas V, Markovich D, Hayes G, Stange G, Forgo J, Biber J et al. Cloning of a Na/Pi cotransporter from opossum kidney cells. J Biol Chem 1994; 269: 6615-21.
-
(1994)
J Biol Chem
, vol.269
, pp. 6615-6621
-
-
Sorribas, V.1
Markovich, D.2
Hayes, G.3
Stange, G.4
Forgo, J.5
Biber, J.6
-
28
-
-
0032743354
-
Effects of Npt2 gene ablation and low-phosphate diet on renal Na+/Phosphate cotransport and cotransport gene expression
-
Hoag HM, Martel J, Gauthier C, Tenenhouse HS. Effects of Npt2 gene ablation and low-phosphate diet on renal Na+/Phosphate cotransport and cotransport gene expression. J Clin Inv 1999; 104: 679-86.
-
(1999)
J Clin Inv
, vol.104
, pp. 679-686
-
-
Hoag, H.M.1
Martel, J.2
Gauthier, C.3
Tenenhouse, H.S.4
-
29
-
-
0033775213
-
Proximal tubular phosphate reabsorption: Molecular mechanisms
-
Murer H, Hernando N, Forster I, Biber J. Proximal tubular phosphate reabsorption: molecular mechanisms. Physiol Rev 2000; 80: 1373-409.
-
(2000)
Physiol Rev
, vol.80
, pp. 1373-1409
-
-
Murer, H.1
Hernando, N.2
Forster, I.3
Biber, J.4
-
30
-
-
0032574725
-
Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciurie, and skeletal abnormalities
-
Beck L, Karaplis AC, Amizuka N, Hewson AS, Ozawa H, Tenenhouse HS. Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciurie, and skeletal abnormalities. Proc Natl Acad Sci USA 1998; 95: 5372-7.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 5372-5377
-
-
Beck, L.1
Karaplis, A.C.2
Amizuka, N.3
Hewson, A.S.4
Ozawa, H.5
Tenenhouse, H.S.6
-
31
-
-
0035160055
-
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
-
32
-
-
0035126513
-
Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene
-
Jones A, Tzenova J, Frappier D, Crumley M, Roslin N, Kos C 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: 507-14.
-
(2001)
J Am Soc Nephrol
, vol.12
, pp. 507-514
-
-
Jones, A.1
Tzenova, J.2
Frappier, D.3
Crumley, M.4
Roslin, N.5
Kos, C.6
-
33
-
-
0037179681
-
Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter
-
Prié D, Huart V, Bakouh N, Planelles G, Dellis O, Gerard B et al. Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter. N Engl J Med 2002; 347: 983-91.
-
(2002)
N Engl J Med
, vol.347
, pp. 983-991
-
-
Prié, D.1
Huart, V.2
Bakouh, N.3
Planelles, G.4
Dellis, O.5
Gerard, B.6
-
34
-
-
0021234196
-
Oncogenous osteomalacia
-
Ryan EA, Reiss E. Oncogenous osteomalacia. Am J Med 1984; 77: 501-12.
-
(1984)
Am J Med
, vol.77
, pp. 501-512
-
-
Ryan, E.A.1
Reiss, E.2
-
35
-
-
14944360740
-
Octreotide therapy for tumor-induced osteomalacia
-
Seufert J, Ebert K, Müller J, Eulert J, Hendrich C, Werner E et al. Octreotide therapy for tumor-induced osteomalacia. N Engl J Med 2001; 345: 1883-8.
-
(2001)
N Engl J Med
, vol.345
, pp. 1883-1888
-
-
Seufert, J.1
Ebert, K.2
Müller, J.3
Eulert, J.4
Hendrich, C.5
Werner, E.6
-
36
-
-
0033847087
-
Tumor-induced osteomalacia and the regulation of phosphate homeostasis
-
Kumar R. Tumor-induced osteomalacia and the regulation of phosphate homeostasis. Bone 2000; 20: 333-8.
-
(2000)
Bone
, vol.20
, pp. 333-338
-
-
Kumar, R.1
-
37
-
-
23444447617
-
Inhibition of renal phosphate transport by a tumor product in a patient with oncogenic osteomalacia
-
Cai Q, Hodgson SF, Kao PC, Lennon VA, Klee GG, Zinsmiester AR et al. Inhibition of renal phosphate transport by a tumor product in a patient with oncogenic osteomalacia. N Engl J Med 1994; 330: 1645-9.
-
(1994)
N Engl J Med
, vol.330
, pp. 1645-1649
-
-
Cai, Q.1
Hodgson, S.F.2
Kao, P.C.3
Lennon, V.A.4
Klee, G.G.5
Zinsmiester, A.R.6
-
38
-
-
0037464509
-
Oncogenic octeomalacia a complex dance of factors
-
Carpenter TO. Oncogenic octeomalacia a complex dance of factors. N Engl J Med 2003; 348: 1705-8.
-
(2003)
N Engl J Med
, vol.348
, pp. 1705-1708
-
-
Carpenter, T.O.1
-
39
-
-
0034235036
-
MEPE, a new gene expressed in bone marrow and tumors causing osteomalacia
-
Rowe PS, de Zoysa PA, Dong R, Wang HR, White KE, Econs MJ et al. MEPE, a new gene expressed in bone marrow and tumors causing osteomalacia. Genomics 2000; 67: 54-68.
-
(2000)
Genomics
, vol.67
, pp. 54-68
-
-
Rowe, P.S.1
De Zoysa, P.A.2
Dong, R.3
Wang, H.R.4
White, K.E.5
Econs, M.J.6
-
40
-
-
0036201187
-
Stanniocalcin 1 (STC1) protein and mRNA are developmentally regulated during embryonic mouse osteogenesis: The potential of STC1 as an autocrine/paracrine factor for osteoblast development and bone formation
-
Yoshiko Y, Aubin JE, Maeda N. Stanniocalcin 1 (STC1) protein and mRNA are developmentally regulated during embryonic mouse osteogenesis: the potential of STC1 as an autocrine/paracrine factor for osteoblast development and bone formation. J Histochem 2002; 50: 483-92.
-
(2002)
J Histochem
, vol.50
, pp. 483-492
-
-
Yoshiko, Y.1
Aubin, J.E.2
Maeda, N.3
-
41
-
-
0034454266
-
Use of long-term intravenous phosphate infusion in the palliative treatment of tumor-induced osteomalacia
-
Yeung SJ, McCutcheon IE, Schultz P, Gagel RF. Use of long-term intravenous phosphate infusion in the palliative treatment of tumor-induced osteomalacia. J Clin Endocrinol Metab 2000; 85: 549-55.
-
(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
-
43
-
-
8544254724
-
Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders
-
Lloyd SE, Günther W, Pearce SH, Thomson A, Bianchi ML, Bosio M et al. Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders. Hum Mol Genet 1997; 6: 1233-9.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1233-1239
-
-
Lloyd, S.E.1
Günther, W.2
Pearce, S.H.3
Thomson, A.4
Bianchi, M.L.5
Bosio, M.6
-
44
-
-
0033918190
-
Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis
-
Thakker RV. Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis. Kidney Int 2000; 57: 787-93.
-
(2000)
Kidney Int
, vol.57
, pp. 787-793
-
-
Thakker, R.V.1
-
45
-
-
0001196827
-
The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-def iciency rickets (PPDR) disease locus
-
Saint-Arnaud R, Messerlian S, Moir JM, Omdahl JL, Glorieux FH. The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-def iciency rickets (PPDR) disease locus. J Bone Miner Res 1997; 12: 1552-9.
-
(1997)
J Bone Miner Res
, vol.12
, pp. 1552-1559
-
-
Saint-Arnaud, R.1
Messerlian, S.2
Moir, J.M.3
Omdahl, J.L.4
Glorieux, F.H.5
-
46
-
-
17644439223
-
Etiologie moléculaire des rachitismes vitaminodépendants héréditaires
-
Saint-Arnaud R, Dardenne O, Glorieux FH. Etiologie moléculaire des rachitismes vitaminodépendants héréditaires. MIS 2001; 17: 1289-96.
-
(2001)
MIS
, vol.17
, pp. 1289-1296
-
-
Saint-Arnaud, R.1
Dardenne, O.2
Glorieux, F.H.3
-
47
-
-
0025369001
-
Mapping autosomal recessive vitamin D dependancy type I to chromosome 12q14 by linkage analysis
-
Labuda M, Morgan K, Glorieux FH. Mapping autosomal recessive vitamin D dependancy type I to chromosome 12q14 by linkage analysis. Am J Hum Genet 1990; 47: 28-36.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 28-36
-
-
Labuda, M.1
Morgan, K.2
Glorieux, F.H.3
-
48
-
-
0033306920
-
No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation
-
Kitanaka S, Murayama A, Sakaki T, Inouve K, Seino Y, Fukumoto S et al. No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation. J Clin Endocrinol Metab 1999; 84: 4111-17.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 4111-4117
-
-
Kitanaka, S.1
Murayama, A.2
Sakaki, T.3
Inouve, K.4
Seino, Y.5
Fukumoto, S.6
-
49
-
-
0032780531
-
The vitamin D receptor and the syndrome of hereditary 1, 25-dihydroxyvitamin D-resistant rickets
-
Malloy PJ, Pike JW, Feldman D. The vitamin D receptor and the syndrome of hereditary 1, 25-dihydroxyvitamin D-resistant rickets. Endocrine Reviews 1999; 20: 156-88.
-
(1999)
Endocrine Reviews
, vol.20
, pp. 156-188
-
-
Malloy, P.J.1
Pike, J.W.2
Feldman, D.3
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