-
1
-
-
0343941702
-
The diagnosis and management of the various types of rickets
-
Fraser D., Salter R.B. The diagnosis and management of the various types of rickets. Pediatr. Clin. North Am. 1958, 417-441.
-
(1958)
Pediatr. Clin. North Am.
, pp. 417-441
-
-
Fraser, D.1
Salter, R.B.2
-
2
-
-
0343941701
-
[Study on idiopathic hypophosphatemic vitamin-resistant rickets.]
-
Royer P. [Study on idiopathic hypophosphatemic vitamin-resistant rickets.]. Acta Clin. Belg. 1960, 15:499-517.
-
(1960)
Acta Clin. Belg.
, vol.15
, pp. 499-517
-
-
Royer, P.1
-
3
-
-
0000104676
-
[An unusual form of primary vitamin D-resistant rickets with hypocalcemia and autosomal-dominant hereditary transmission: hereditary pseudo-deficiency rickets.]
-
Prader A., Illig R., Heierli E. [An unusual form of primary vitamin D-resistant rickets with hypocalcemia and autosomal-dominant hereditary transmission: hereditary pseudo-deficiency rickets.]. Helv. Paediatr. Acta 1961, 16:452-468.
-
(1961)
Helv. Paediatr. Acta
, vol.16
, pp. 452-468
-
-
Prader, A.1
Illig, R.2
Heierli, E.3
-
4
-
-
0014754697
-
Vitamin D dependency
-
Scriver C.R. Vitamin D dependency. Pediatrics 1970, 45:361-363.
-
(1970)
Pediatrics
, vol.45
, pp. 361-363
-
-
Scriver, C.R.1
-
5
-
-
0015929252
-
Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D
-
Fraser D., Kooh S.W., Kind H.P., Holick M.F., Tanaka Y., DeLuca H.F. Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D. N. Engl. J. Med. 1973, 289:817-822.
-
(1973)
N. Engl. J. Med.
, vol.289
, pp. 817-822
-
-
Fraser, D.1
Kooh, S.W.2
Kind, H.P.3
Holick, M.F.4
Tanaka, Y.5
DeLuca, H.F.6
-
6
-
-
0030782757
-
Portale AA 1997 Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1
-
Fu G.K., Lin D., Zhang M.Y., Bikle D.D., Shackleton C.H., Miller W.L. Portale AA 1997 Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1. Mol. Endocrinol. 1997, 11:1961-1970.
-
(1997)
Mol. Endocrinol.
, vol.11
, pp. 1961-1970
-
-
Fu, G.K.1
Lin, D.2
Zhang, M.Y.3
Bikle, D.D.4
Shackleton, C.H.5
Miller, W.L.6
-
7
-
-
0018220501
-
A familial syndrome of decrease in sensitivity to 1,25-dihydroxyvitamin D
-
Marx S.J., Spiegel A.M., Brown E.M., Gardner D.G., Downs R.W., Attie M., et al. A familial syndrome of decrease in sensitivity to 1,25-dihydroxyvitamin D. J. Clin. Endocrinol. Metab. 1978, 47:1303-1310.
-
(1978)
J. Clin. Endocrinol. Metab.
, vol.47
, pp. 1303-1310
-
-
Marx, S.J.1
Spiegel, A.M.2
Brown, E.M.3
Gardner, D.G.4
Downs, R.W.5
Attie, M.6
-
8
-
-
0018410654
-
Rickets with alopecia: an inborn error of vitamin D metabolism
-
Rosen J.F., Fleischman A.R., Finberg L., Hamstra A., DeLuca H.F. Rickets with alopecia: an inborn error of vitamin D metabolism. J. Pediatr. 1979, 94:729-735.
-
(1979)
J. Pediatr.
, vol.94
, pp. 729-735
-
-
Rosen, J.F.1
Fleischman, A.R.2
Finberg, L.3
Hamstra, A.4
DeLuca, H.F.5
-
9
-
-
0024268931
-
Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets
-
Hughes M.R., Malloy P.J., Kieback D.G., Kesterson R.A., Pike J.W., Feldman D., et al. Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. Science 1988, 242:1702-1705.
-
(1988)
Science
, vol.242
, pp. 1702-1705
-
-
Hughes, M.R.1
Malloy, P.J.2
Kieback, D.G.3
Kesterson, R.A.4
Pike, J.W.5
Feldman, D.6
-
10
-
-
3242875301
-
Presentation of vitamin D deficiency
-
Ladhani S., Srinivasan L., Buchanan C., Allgrove J. Presentation of vitamin D deficiency. Arch. Dis. Child 2004, 89:781-784.
-
(2004)
Arch. Dis. Child
, vol.89
, pp. 781-784
-
-
Ladhani, S.1
Srinivasan, L.2
Buchanan, C.3
Allgrove, J.4
-
11
-
-
78650909513
-
Short- and long-term outcome of patients with pseudo-vitamin D deficiency rickets treated with calcitriol
-
Edouard T., Alos N., Chabot G., Roughley P., Glorieux F.H., Rauch F. Short- and long-term outcome of patients with pseudo-vitamin D deficiency rickets treated with calcitriol. J. Clin. Endocrinol. Metab. 2011, 96:82-89.
-
(2011)
J. Clin. Endocrinol. Metab.
, vol.96
, pp. 82-89
-
-
Edouard, T.1
Alos, N.2
Chabot, G.3
Roughley, P.4
Glorieux, F.H.5
Rauch, F.6
-
12
-
-
0014887807
-
Vitamin D dependency: an inherited postnatal syndrome with secondary hyperparathyroidism
-
Arnaud C., Maijer R., Reade T., Scriver C.R., Whelan D.T. Vitamin D dependency: an inherited postnatal syndrome with secondary hyperparathyroidism. Pediatrics 1970, 46:871-880.
-
(1970)
Pediatrics
, vol.46
, pp. 871-880
-
-
Arnaud, C.1
Maijer, R.2
Reade, T.3
Scriver, C.R.4
Whelan, D.T.5
-
13
-
-
0015357158
-
Vitamin D-dependent rickets: actions of parathyroid hormone and 25-hydroxycholecalciferol
-
Rosen J.F., Finberg L. Vitamin D-dependent rickets: actions of parathyroid hormone and 25-hydroxycholecalciferol. Pediatr. Res. 1972, 6:552-562.
-
(1972)
Pediatr. Res.
, vol.6
, pp. 552-562
-
-
Rosen, J.F.1
Finberg, L.2
-
14
-
-
0019425356
-
Vitamin D dependency: replacement therapy with calcitriol?
-
Delvin E.E., Glorieux F.H., Marie P.J., Pettifor J.M. Vitamin D dependency: replacement therapy with calcitriol?. J. Pediatr. 1981, 99:26-34.
-
(1981)
J. Pediatr.
, vol.99
, pp. 26-34
-
-
Delvin, E.E.1
Glorieux, F.H.2
Marie, P.J.3
Pettifor, J.M.4
-
15
-
-
0018133886
-
Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease
-
Scriver C.R., Reade T.M., DeLuca H.F., Hamstra A.J. Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease. N. Engl. J. Med. 1978, 299:976-979.
-
(1978)
N. Engl. J. Med.
, vol.299
, pp. 976-979
-
-
Scriver, C.R.1
Reade, T.M.2
DeLuca, H.F.3
Hamstra, A.J.4
-
16
-
-
0026605796
-
Normal 24-hydroxylation of vitamin D metabolites in patients with vitamin D-dependency rickets type I. Structural implications for the vitamin D hydroxylases
-
Mandla S., Jones G., Tenenhouse H.S. Normal 24-hydroxylation of vitamin D metabolites in patients with vitamin D-dependency rickets type I. Structural implications for the vitamin D hydroxylases. J. Clin. Endocrinol. Metab. 1992, 74:814-820.
-
(1992)
J. Clin. Endocrinol. Metab.
, vol.74
, pp. 814-820
-
-
Mandla, S.1
Jones, G.2
Tenenhouse, H.S.3
-
17
-
-
0027318507
-
Rat kidney 25-hydroxyvitamin D3 1 alpha- and 24-hydroxylases: evidence for two distinct gene products
-
Arabian A., Grover J., Barre M.G., Delvin E.E. Rat kidney 25-hydroxyvitamin D3 1 alpha- and 24-hydroxylases: evidence for two distinct gene products. J. Steroid Biochem. Mol. Biol. 1993, 45:513-516.
-
(1993)
J. Steroid Biochem. Mol. Biol.
, vol.45
, pp. 513-516
-
-
Arabian, A.1
Grover, J.2
Barre, M.G.3
Delvin, E.E.4
-
18
-
-
0022003232
-
[Hereditary tyrosinemia and vitamin-dependent rickets in Saguenay. A genetic and demographic approach]
-
Bouchard G., Laberge C., Scriver C.R. [Hereditary tyrosinemia and vitamin-dependent rickets in Saguenay. A genetic and demographic approach]. Union Med. Can. 1985, 114:633-636.
-
(1985)
Union Med. Can.
, vol.114
, pp. 633-636
-
-
Bouchard, G.1
Laberge, C.2
Scriver, C.R.3
-
19
-
-
0026321320
-
Population genetics of vitamin D-dependent rickets in northeastern Quebec
-
De Braekeleer M., Larochelle J. Population genetics of vitamin D-dependent rickets in northeastern Quebec. Ann. Hum. Genet. 1991, 55:283-290.
-
(1991)
Ann. Hum. Genet.
, vol.55
, pp. 283-290
-
-
De Braekeleer, M.1
Larochelle, J.2
-
20
-
-
19244362432
-
Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians
-
Labuda M., Labuda D., Korab-Laskowska M., Cole D.E., Zietkiewicz E., Weissenbach J., et al. Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians. Am. J. Hum. Genet. 1996, 59:633-643.
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 633-643
-
-
Labuda, M.1
Labuda, D.2
Korab-Laskowska, M.3
Cole, D.E.4
Zietkiewicz, E.5
Weissenbach, J.6
-
21
-
-
0025756913
-
Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada)
-
De Braekeleer M. Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). Hum. Hered. 1991, 41:141-146.
-
(1991)
Hum. Hered.
, vol.41
, pp. 141-146
-
-
De Braekeleer, M.1
-
22
-
-
0030707951
-
Cloning and expression of rat 25-hydroxyvitamin D3-1alpha-hydroxylase cDNA
-
Shinki T., Shimada H., Wakino S., Anazawa H., Hayashi M., Saruta T., et al. Cloning and expression of rat 25-hydroxyvitamin D3-1alpha-hydroxylase cDNA. Proc. Natl. Acad. Sci. USA 1997, 94:12920-12925.
-
(1997)
Proc. Natl. Acad. Sci. USA
, vol.94
, pp. 12920-12925
-
-
Shinki, T.1
Shimada, H.2
Wakino, S.3
Anazawa, H.4
Hayashi, M.5
Saruta, T.6
-
23
-
-
0001196827
-
The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus
-
St-Arnaud R., Messerlian S., Moir J.M., Omdahl J.L., Glorieux F.H. The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus. J. Bone Miner. Res. 1997, 12:1552-1559.
-
(1997)
J. Bone Miner. Res.
, vol.12
, pp. 1552-1559
-
-
St-Arnaud, R.1
Messerlian, S.2
Moir, J.M.3
Omdahl, J.L.4
Glorieux, F.H.5
-
24
-
-
0030612651
-
Kato S 1997 25-Hydroxyvitamin D3 1alpha-hydroxylase and vitamin D
-
Takeyama K., Kitanaka S., Sato T., Kobori M., Yanagisawa J. Kato S 1997 25-Hydroxyvitamin D3 1alpha-hydroxylase and vitamin D. synthesis Science 1997, 277:1827-1830.
-
(1997)
synthesis Science
, vol.277
, pp. 1827-1830
-
-
Takeyama, K.1
Kitanaka, S.2
Sato, T.3
Kobori, M.4
Yanagisawa, J.5
-
25
-
-
0032485525
-
Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets
-
Kitanaka S., Takeyama K., Murayama A., Sato T., Okumura K., Nogami M., et al. Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets. N. Engl. J. Med. 1998, 338:653-661.
-
(1998)
N. Engl. J. Med.
, vol.338
, pp. 653-661
-
-
Kitanaka, S.1
Takeyama, K.2
Murayama, A.3
Sato, T.4
Okumura, K.5
Nogami, M.6
-
26
-
-
0031593494
-
Two novel 1alpha-hydroxylase mutations in French-Canadians with vitamin D dependency rickets type II
-
Yoshida T., Monkawa T., Tenenhouse H.S., Goodyer P., Shinki T., Suda T., et al. Two novel 1alpha-hydroxylase mutations in French-Canadians with vitamin D dependency rickets type II. Kidney Int. 1998, 54:1437-1443.
-
(1998)
Kidney Int.
, vol.54
, pp. 1437-1443
-
-
Yoshida, T.1
Monkawa, T.2
Tenenhouse, H.S.3
Goodyer, P.4
Shinki, T.5
Suda, T.6
-
27
-
-
34547812154
-
Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency
-
Kim C.J., Kaplan L.E., Perwad F., Huang N., Sharma A., Choi Y., et al. Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency. J. Clin. Endocrinol. Metab. 2007, 92:3177-3182.
-
(2007)
J. Clin. Endocrinol. Metab.
, vol.92
, pp. 3177-3182
-
-
Kim, C.J.1
Kaplan, L.E.2
Perwad, F.3
Huang, N.4
Sharma, A.5
Choi, Y.6
-
28
-
-
0036077507
-
Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro
-
Wang X., Zhang M.Y., Miller W.L., Portale A.A. Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro. J. Clin. Endocrinol. Metab. 2002, 87:2424-2430.
-
(2002)
J. Clin. Endocrinol. Metab.
, vol.87
, pp. 2424-2430
-
-
Wang, X.1
Zhang, M.Y.2
Miller, W.L.3
Portale, A.A.4
-
29
-
-
0032471514
-
Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families
-
Wang J.T., Lin C.J., Burridge S.M., Fu G.K., Labuda M., Portale A.A., et al. Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families. Am. J. Hum. Gene 1998, 63:1694-1702.
-
(1998)
Am. J. Hum. Gene
, vol.63
, pp. 1694-1702
-
-
Wang, J.T.1
Lin, C.J.2
Burridge, S.M.3
Fu, G.K.4
Labuda, M.5
Portale, A.A.6
-
30
-
-
0034984919
-
Targeted inactivation of the 25-hydroxyvitamin D(3)-1(alpha)-hydroxylase gene (CYP27B1) creates an animal model of pseudovitamin D-deficiency rickets
-
Dardenne O., Prud'homme J., Arabian A., Glorieux F.H., St-Arnaud R. Targeted inactivation of the 25-hydroxyvitamin D(3)-1(alpha)-hydroxylase gene (CYP27B1) creates an animal model of pseudovitamin D-deficiency rickets. Endocrinology 2001, 142:3135-3141.
-
(2001)
Endocrinology
, vol.142
, pp. 3135-3141
-
-
Dardenne, O.1
Prud'homme, J.2
Arabian, A.3
Glorieux, F.H.4
St-Arnaud, R.5
-
31
-
-
0035912707
-
Targeted ablation of the 25-hydroxyvitamin D 1alpha -hydroxylase enzyme: evidence for skeletal, reproductive, and immune dysfunction
-
Panda D.K., Miao D., Tremblay M.L., Sirois J., Farookhi R., Hendy G.N., et al. Targeted ablation of the 25-hydroxyvitamin D 1alpha -hydroxylase enzyme: evidence for skeletal, reproductive, and immune dysfunction. Proc. Natl. Acad. Sci. USA 2001, 98:7498-7503.
-
(2001)
Proc. Natl. Acad. Sci. USA
, vol.98
, pp. 7498-7503
-
-
Panda, D.K.1
Miao, D.2
Tremblay, M.L.3
Sirois, J.4
Farookhi, R.5
Hendy, G.N.6
-
32
-
-
0014755610
-
The small intestine in vitamin D dependent rickets
-
Hamilton R., Harrison J., Fraser D., Radde I., Morecki R., Paunier L. The small intestine in vitamin D dependent rickets. Pediatrics 1970, 45:364-373.
-
(1970)
Pediatrics
, vol.45
, pp. 364-373
-
-
Hamilton, R.1
Harrison, J.2
Fraser, D.3
Radde, I.4
Morecki, R.5
Paunier, L.6
-
33
-
-
0017681271
-
Long-term therapy with 1alpha-hydroxyvitamin D3 in children with "pseudo-deficiency" rickets
-
Balsan S., Garabedian M., Courtecuisse V., Gueris J., Dommergues J.P., Creignou L., et al. Long-term therapy with 1alpha-hydroxyvitamin D3 in children with "pseudo-deficiency" rickets. Clin. Endocrinol. (Oxf.) 1977, 7(Suppl.):225s-230s.
-
(1977)
Clin. Endocrinol. (Oxf.)
, vol.7
, Issue.SUPPL.
-
-
Balsan, S.1
Garabedian, M.2
Courtecuisse, V.3
Gueris, J.4
Dommergues, J.P.5
Creignou, L.6
-
34
-
-
0016593491
-
Response to crystalline 1alpha-hydroxyvitamin D3 in vitamin D dependency
-
Reade T.M., Scriver C.R., Glorieux F.H., Nogrady B., Delvin E., Poirier R., et al. Response to crystalline 1alpha-hydroxyvitamin D3 in vitamin D dependency. Pediatr. Res. 1975, 9:593-599.
-
(1975)
Pediatr. Res.
, vol.9
, pp. 593-599
-
-
Reade, T.M.1
Scriver, C.R.2
Glorieux, F.H.3
Nogrady, B.4
Delvin, E.5
Poirier, R.6
-
36
-
-
33745206085
-
Cycling and early pregnant endometrium as a site of regulated expression of the vitamin D system
-
Vigano P., Lattuada D., Mangioni S., Ermellino L., Vignali M., Caporizzo E., et al. Cycling and early pregnant endometrium as a site of regulated expression of the vitamin D system. J. Mol. Endocrinol. 2006, 36:415-424.
-
(2006)
J. Mol. Endocrinol.
, vol.36
, pp. 415-424
-
-
Vigano, P.1
Lattuada, D.2
Mangioni, S.3
Ermellino, L.4
Vignali, M.5
Caporizzo, E.6
-
37
-
-
0021837058
-
In vitro metabolism of 25-hydroxycholecalciferol by isolated cells from human decidua
-
Delvin E.E., Arabian A., Glorieux F.H., Mamer O.A. In vitro metabolism of 25-hydroxycholecalciferol by isolated cells from human decidua. J. Clin. Endocrinol. Metab. 1985, 60:880-885.
-
(1985)
J. Clin. Endocrinol. Metab.
, vol.60
, pp. 880-885
-
-
Delvin, E.E.1
Arabian, A.2
Glorieux, F.H.3
Mamer, O.A.4
|