-
1
-
-
68149135640
-
The interrelationships between vitamin D and parathyroid hormone in disorders of mineral metabolism in man
-
Norman AW ed, Amsterdam, de Gruyter
-
Arnaud SB, Arnaud CD, Bordier PJ: The interrelationships between vitamin D and parathyroid hormone in disorders of mineral metabolism in man; in Norman AW (ed): Vitamin D and Problems of Uremic Bone Disease. Amsterdam, de Gruyter, 1975, pp 397-416.
-
(1975)
Vitamin D and Problems of Uremic Bone Disease
, pp. 397-416
-
-
Arnaud, S.B.1
Arnaud, C.D.2
Bordier, P.J.3
-
2
-
-
0031082360
-
Nutritional and metabolic rickets
-
Teotia M, Teotia SP: Nutritional and metabolic rickets. Indian J Pediatr 1997;64:153-157.
-
(1997)
Indian J Pediatr
, vol.64
, pp. 153-157
-
-
Teotia, M.1
Teotia, S.P.2
-
3
-
-
42549115771
-
Hypocalcaemia and vitamin D deficiency: An important, but preventable cause of life threatening infant heart failure
-
Maiya S, Sullivan I, Allgrove J, et al: Hypocalcaemia and vitamin D deficiency: an important, but preventable cause of life threatening infant heart failure. Heart 2008;94:581-584.
-
(2008)
Heart
, vol.94
, pp. 581-584
-
-
Maiya, S.1
Sullivan, I.2
Allgrove, J.3
-
6
-
-
35748948354
-
Low calcium intake and hypovitaminosis D in adolescent girls
-
Khadilkar A, Das G, Sayyad M, et al: Low calcium intake and hypovitaminosis D in adolescent girls. Arch Dis Child 2007;92:1045.
-
(2007)
Arch Dis Child
, vol.92
, pp. 1045
-
-
Khadilkar, A.1
Das, G.2
Sayyad, M.3
-
8
-
-
0028285858
-
A possible genetic defect in 25-hydroxylation as a cause of rickets
-
Norman AW ed, Amsterdam, de Gruyter
-
Casella SJ, Reiner BJ, Chen TC, Holick MF, Harrison HE: A possible genetic defect in 25-hydroxylation as a cause of rickets; in Norman AW (ed): Vitamin D and Problems of Uremic Bone Disease. Amsterdam, de Gruyter, 1994, pp 929-932.
-
(1994)
Vitamin D and Problems of Uremic Bone Disease
, pp. 929-932
-
-
Casella, S.J.1
Reiner, B.J.2
Chen, T.C.3
Holick, M.F.4
Harrison, H.E.5
-
9
-
-
0343941702
-
The diagnosis and management of the various types of rickets
-
Fraser D, Salter RB: 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
-
10
-
-
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
-
11
-
-
0032485525
-
3 1alpha-hydroxylase gene in patients with pseudo-vitamin D-deficiency rickets
-
3 1alpha-hydroxylase gene in patients with pseudo-vitamin 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
-
13
-
-
0018410654
-
Rickets with alopecia: An inborn error of vitamin D metabolism
-
Rosen JF, Fleischman AR, Finberg L, Hamstra A, DeLuca HF: 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
-
14
-
-
0018898374
-
End-organ resistance to 1,25-dihydroxycholecalciferol
-
Liberman UA, Samuel R, Halabe A, et al: End-organ resistance to 1,25-dihydroxycholecalciferol. Lancet 1980;i:504-506.
-
(1980)
Lancet
, vol.1
, pp. 504-506
-
-
Liberman, U.A.1
Samuel, R.2
Halabe, A.3
-
15
-
-
0029080173
-
Vitamin D dependent rickets type II and normal vitamin D receptor cDNA sequence: A cluster in a rural area of Cauca, Colombia, with more than 200 affected children
-
Giraldo A, Pino W, Garcia-Ramirez LF, Pineda M, Iglesias A: Vitamin D dependent rickets type II and normal vitamin D receptor cDNA sequence: a cluster in a rural area of Cauca, Colombia, with more than 200 affected children. Clin Genet 1995;48:57- 65.
-
(1995)
Clin Genet
, vol.48
, pp. 57-65
-
-
Giraldo, A.1
Pino, W.2
Garcia-Ramirez, L.F.3
Pineda, M.4
Iglesias, A.5
-
16
-
-
0027133474
-
Tissue resistance to 1,25-dihydroxyvitamin D without a mutation of the vitamin D receptor gene
-
Hewison M, Rut AR, Kristjansson K, et al: Tissue resistance to 1,25-dihydroxyvitamin D without a mutation of the vitamin D receptor gene. Clin Endocrinol (Oxf) 1993;39:663-670.
-
(1993)
Clin Endocrinol (Oxf)
, vol.39
, pp. 663-670
-
-
Hewison, M.1
Rut, A.R.2
Kristjansson, K.3
-
17
-
-
0038623773
-
Heterogeneous nuclear ribonucleoprotein (hnRNP) binding to hormone response elements: A cause of vitamin D resistance
-
Chen H, Hewison M, Hu B, Adams JS: Heterogeneous nuclear ribonucleoprotein (hnRNP) binding to hormone response elements: a cause of vitamin D resistance. Proc Natl Acad Sci USA 2003; 100:6109-6114.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 6109-6114
-
-
Chen, H.1
Hewison, M.2
Hu, B.3
Adams, J.S.4
-
18
-
-
18744379726
-
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss
-
Stover EH, Borthwick KJ, Bavalia C, et al: Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med Genet 2002;39:796- 803.
-
(2002)
J Med Genet
, vol.39
, pp. 796-803
-
-
Stover, E.H.1
Borthwick, K.J.2
Bavalia, C.3
-
19
-
-
0032943534
-
+-ATPase cause renal tubular acidosis with sensorineural deafness
-
+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet 1999;21:84-90.
-
(1999)
Nat Genet
, vol.21
, pp. 84-90
-
-
Karet, F.E.1
Finberg, K.E.2
Nelson, R.D.3
-
20
-
-
33644860224
-
Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene
-
Feldman M, Prikis M, Athanasiou Y, Elia A, Pierides A, Deltas CC: Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene. Clin Genet 2006;69:135-144.
-
(2006)
Clin Genet
, vol.69
, pp. 135-144
-
-
Feldman, M.1
Prikis, M.2
Athanasiou, Y.3
Elia, A.4
Pierides, A.5
Deltas, C.C.6
-
21
-
-
0034663483
-
Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: Loss of up to 95% band 3 transport in red cells
-
Bruce LJ, Wrong O, Toye AM, et al: Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells. Biochem J 2000;350 Pt 1:41-51.
-
(2000)
Biochem J
, vol.350
, Issue.PART 1
, pp. 41-51
-
-
Bruce, L.J.1
Wrong, O.2
Toye, A.M.3
-
22
-
-
0021877714
-
Carbonic anhydrase II deficiency in 12 families with the auto-somal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification
-
Sly WS, Whyte M P, Sundaram V, et al: Carbonic anhydrase II deficiency in 12 families with the auto-somal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. N Engl J Med 1985;313:139-145.
-
(1985)
N Engl J Med
, vol.313
, pp. 139-145
-
-
Sly, W.S.1
Whyte, M.P.2
Sundaram, V.3
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