-
1
-
-
0030907428
-
New perspectives on the biology and treatment of X-linked hypophosphatemic rickets
-
Carpenter TO: New perspectives on the biology and treatment of X-linked hypophosphatemic rickets. Pediatr Clin N Am 1997; 44: 443-66.
-
(1997)
Pediatr Clin N Am
, vol.44
, pp. 443-466
-
-
Carpenter, T.O.1
-
2
-
-
0029160578
-
A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets
-
The HYP Consortium: A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nat Genet 1995; 11: 130-6.
-
(1995)
Nat Genet
, vol.11
, pp. 130-136
-
-
-
3
-
-
0026691973
-
Crosstransplantation of kidneys in normal and Hyp mice: Evidence that the Hyp mouse phenotype is unrelated to an intrinsic renal defect
-
Nesbitt T, Coffman TM, Griffiths R, et al.: Crosstransplantation of kidneys in normal and Hyp mice: evidence that the Hyp mouse phenotype is unrelated to an intrinsic renal defect. J Clin Invest 1992; 89: 1453-9.
-
(1992)
J Clin Invest
, vol.89
, pp. 1453-1459
-
-
Nesbitt, T.1
Coffman, T.M.2
Griffiths, R.3
-
4
-
-
0031452349
-
Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13
-
Econs MJ, McEnery PT, Lennon F, et al.: 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
-
6
-
-
0024397651
-
Hypercalciuric hypophosphatemic rickets: Mineral balance, bone histomorphometry, and therapeutic implications of hypercalciuria
-
Chen C, Carpenter TO, Steg N, et al.: Hypercalciuric hypophosphatemic rickets: mineral balance, bone histomorphometry, and therapeutic implications of hypercalciuria. Pediatrics 1989; 84: 276-80.
-
(1989)
Pediatrics
, vol.84
, pp. 276-280
-
-
Chen, C.1
Carpenter, T.O.2
Steg, N.3
-
7
-
-
0031888274
-
X-linked hypercalciuric nephrolithiasis: Clinical syndromes and chloride channel mutations
-
Scheinman SJ: X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. Kidney Int 1998; 53: 3-17.
-
(1998)
Kidney Int
, vol.53
, pp. 3-17
-
-
Scheinman, S.J.1
-
8
-
-
0030782757
-
Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type I
-
Fu GK, Lin D, Zhang MY, et al.: Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type I. Mol Endocrinol 1997; 11: 1961-70.
-
(1997)
Mol Endocrinol
, vol.11
, pp. 1961-1970
-
-
Fu, G.K.1
Lin, D.2
Zhang, M.Y.3
-
9
-
-
0002418732
-
Hereditary 1,25-dihydroxyvitamin D resistant rickets
-
edited by Feldman D, Glorieux FH, Pike JW, San Diego, Academic Press
-
Malloy PJ, Pike JW, Feldman D: Hereditary 1,25-dihydroxyvitamin D resistant rickets. In Vitamin D, edited by Feldman D, Glorieux FH, Pike JW, pp. 765-87, San Diego, Academic Press 1997.
-
(1997)
Vitamin D
, pp. 765-787
-
-
Malloy, P.J.1
Pike, J.W.2
Feldman, D.3
-
10
-
-
0011322884
-
Missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia
-
Weiss MJ, Cole DE, Ray K, et al.: Missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proc Natl Acad Sci USA 1988; 85: 7666-9.
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 7666-7669
-
-
Weiss, M.J.1
Cole, D.E.2
Ray, K.3
-
11
-
-
0027282559
-
A type X collagen mutation causes Schmid metaphyseal chondrodysplasia
-
Warman ML, Abbott M, Apte SS, et al.: A type X collagen mutation causes Schmid metaphyseal chondrodysplasia. Nat Genet 1993; 5: 79-82.
-
(1993)
Nat Genet
, vol.5
, pp. 79-82
-
-
Warman, M.L.1
Abbott, M.2
Apte, S.S.3
-
12
-
-
0024450540
-
X-linked hypophosphatemia: A clinical, biochemical, and histopathologic assessment of morbidity in adults
-
Reid IR, Hardy DC, Murphy WA, et al.: X-linked hypophosphatemia: a clinical, biochemical, and histopathologic assessment of morbidity in adults. Medicine 1989; 68: 336-52.
-
(1989)
Medicine
, vol.68
, pp. 336-352
-
-
Reid, I.R.1
Hardy, D.C.2
Murphy, W.A.3
-
13
-
-
0030748395
-
Cardiovascular abnormalities in patients with X-linked hypophosphatemia
-
Neghme R, Fahey JT, Smith C, et al.: Cardiovascular abnormalities in patients with X-linked hypophosphatemia. J Clin Endocrinol Metab 1997; 82: 2450-4.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 2450-2454
-
-
Neghme, R.1
Fahey, J.T.2
Smith, C.3
-
14
-
-
0028273206
-
X-linked hypophosphatemic rickets: A disease often unknown to affected patients
-
Econs MJ, Samsa GP, Monger M, et al.: X-linked hypophosphatemic rickets: a disease often unknown to affected patients. Bone Mineral 1994; 24:17-24.
-
(1994)
Bone Mineral
, vol.24
, pp. 17-24
-
-
Econs, M.J.1
Samsa, G.P.2
Monger, M.3
-
15
-
-
0016721902
-
Nomogram for derivation of renal threshold phosphate concentration
-
Walton RJ, Bijvoet OL: Nomogram for derivation of renal threshold phosphate concentration. Lancet 1975; 2: 309-10.
-
(1975)
Lancet
, vol.2
, pp. 309-310
-
-
Walton, R.J.1
Bijvoet, O.L.2
-
16
-
-
0028318116
-
Nocturnal hyperparathyroidism: A frequent feature of X-linked hypophosphatemia
-
Carpenter TO, Mitnick MA, Ellison A, et al.: Nocturnal hyperparathyroidism: a frequent feature of X-linked hypophosphatemia. J Clin Endocrinol Metab 1994; 78: 1378-83.
-
(1994)
J Clin Endocrinol Metab
, vol.78
, pp. 1378-1383
-
-
Carpenter, T.O.1
Mitnick, M.A.2
Ellison, A.3
-
17
-
-
0025939791
-
Growth hormone therapy in hypophosphatemic rickets
-
Wilson DM, Lee PDH, Morris AH, et al.: Growth hormone therapy in hypophosphatemic rickets. Am J Dis Child 1991; 145: 1165-70.
-
(1991)
Am J Dis Child
, vol.145
, pp. 1165-1170
-
-
Wilson, D.M.1
Lee, P.D.H.2
Morris, A.H.3
-
18
-
-
0029157148
-
Long-term growth hormone treatment in children with renal hypophosphatemic rickets: Effects on growth, mineral metabolism, and bone density
-
Saggese G, Baroncelli GI, Bertelloni S, et al.: Long-term growth hormone treatment in children with renal hypophosphatemic rickets: effects on growth, mineral metabolism, and bone density. J Pediatr 1995; 127: 395-402.
-
(1995)
J Pediatr
, vol.127
, pp. 395-402
-
-
Saggese, G.1
Baroncelli, G.I.2
Bertelloni, S.3
-
19
-
-
8944219775
-
24,25 Dihydroxyvitamin D supplementation corrects hyperparathyroidism and improves skeletal abnormalities in X-linked hypophosphatemic rickets - A clinical research center study
-
Carpenter TO, Keller M, Schwartz D, et al.: 24,25 Dihydroxyvitamin D supplementation corrects hyperparathyroidism and improves skeletal abnormalities in X-linked hypophosphatemic rickets - a clinical research center study. J Clin Endocrinol Metab 1996; 81: 2381-8.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 2381-2388
-
-
Carpenter, T.O.1
Keller, M.2
Schwartz, D.3
-
20
-
-
0026410073
-
Effects of therapy in X-linked hypophosphatemic rickets
-
Verg CF, Lam A, Simpson JM, et al.: 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
-
-
Verg, C.F.1
Lam, A.2
Simpson, J.M.3
-
21
-
-
85038149688
-
Diminished renal concentrating ability in children with XLH and ultrasonagraphic nephrocalcinosis
-
Eddy MC, McAlister WH, Leelawattana R, Whyte MP: Diminished renal concentrating ability in children with XLH and ultrasonagraphic nephrocalcinosis. J Bone Mineral Res 1997; 12 (Suppl. 1): S393.
-
(1997)
J Bone Mineral Res
, vol.12
, Issue.1 SUPPL.
-
-
Eddy, M.C.1
McAlister, W.H.2
Leelawattana, R.3
Whyte, M.P.4
|