-
1
-
-
0029020519
-
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis
-
Praga M, Vara J, Gonzalez-Parra E, Andres A, Alamo C, Araque A, Ortiz A, Rodicio JL (1995) Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Kidney Int 47:1419-1425
-
(1995)
Kidney Int
, vol.47
, pp. 1419-1425
-
-
Praga, M.1
Vara, J.2
Gonzalez-Parra, E.3
Andres, A.4
Alamo, C.5
Araque, A.6
Ortiz, A.7
Rodicio, J.L.8
-
2
-
-
0017852004
-
Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings
-
Manz F, Scharer K, Janka P, Lombeck J (1978) Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings. Eur J Pediatr 128:67-79
-
(1978)
Eur J Pediatr
, vol.128
, pp. 67-79
-
-
Manz, F.1
Scharer, K.2
Janka, P.3
Lombeck, J.4
-
3
-
-
0034905104
-
Familial hypomagnesemia-hypercalciuria in 2 siblings
-
Kuwertz-Broking E, Frund S, Bulla M, Kleta R, August C, Kisters K (2001) Familial hypomagnesemia-hypercalciuria in 2 siblings. Clin Nephrol 56:155-161
-
(2001)
Clin Nephrol
, vol.56
, pp. 155-161
-
-
Kuwertz-Broking, E.1
Frund, S.2
Bulla, M.3
Kleta, R.4
August, C.5
Kisters, K.6
-
4
-
-
0035745132
-
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis
-
Martin AM, Canals BA, Sanguino LL, Gavilan MC, Flores SJ (2001) Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Ann Esp Pediatr 54:174-177
-
(2001)
Ann Esp Pediatr
, vol.54
, pp. 174-177
-
-
Martin, A.M.1
Canals, B.A.2
Sanguino, L.L.3
Gavilan, M.C.4
Flores, S.J.5
-
5
-
-
0033150047
-
Early hypomagnesemia, hypercalciuria and nephrocalcinosis: Two cases in a family
-
Mourani C, Khallouf E, Akkari V, Akatcherian C, Cochat P (1999) Early hypomagnesemia, hypercalciuria and nephrocalcinosis: Two cases in a family. Arch Pediatr 6:748-751
-
(1999)
Arch Pediatr
, vol.6
, pp. 748-751
-
-
Mourani, C.1
Khallouf, E.2
Akkari, V.3
Akatcherian, C.4
Cochat, P.5
-
6
-
-
0019482285
-
The congenital "magnesium-losing kidney". Report of two patients
-
Evans RA, Carter JN, George CR, Walls RS, Newland RC, McDonnell GD, Lawrence JR (1981) The congenital "magnesium-losing kidney". Report of two patients. Q J Med 50:39-52
-
(1981)
Q J Med
, vol.50
, pp. 39-52
-
-
Evans, R.A.1
Carter, J.N.2
George, C.R.3
Walls, R.S.4
Newland, R.C.5
McDonnell, G.D.6
Lawrence, J.R.7
-
7
-
-
0034093572
-
Hypomagnesaemia-hypercalciuria nephrocalcinosis: A report of nine cases and a review
-
Benigno V, Canonica CS, Bettinelli A, von Vigier RO, Truttmann AC, Bianchetti MG (2000) Hypomagnesaemia-hypercalciuria nephrocalcinosis: A report of nine cases and a review. Nephrol Dial Transplant 15:605-610
-
(2000)
Nephrol Dial Transplant
, vol.15
, pp. 605-610
-
-
Benigno, V.1
Canonica, C.S.2
Bettinelli, A.3
von Vigier, R.O.4
Truttmann, A.C.5
Bianchetti, M.G.6
-
8
-
-
0033516683
-
2+ resorption
-
2+ resorption. Science 285:103-106
-
(1999)
Science
, vol.285
, pp. 103-106
-
-
Simon, D.B.1
Lu, Y.2
Choate, K.A.3
Velazquez, H.4
Al-Sabban, E.5
Praga, M.6
Casari, G.7
Bettinelli, A.8
Colussi, G.9
Rodriguez-Soriano, J.10
McCredie, D.11
Milford, D.12
Sanjad, S.13
Lifton, R.P.14
-
9
-
-
0034863148
-
Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
-
Weber S, Schneider L, Peters M, Misselwitz J, Ronnefarth G, Boswald M, Bonzel KE, Seeman T, Sulakova T, Kuwertz-Broking E, Gregoric A, Palcoux JB, Tasic V, Manz F, Scharer K, Seyberth HW, Konrad M (2001) Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol 12:1872-1881
-
(2001)
J Am Soc Nephrol
, vol.12
, pp. 1872-1881
-
-
Weber, S.1
Schneider, L.2
Peters, M.3
Misselwitz, J.4
Ronnefarth, G.5
Boswald, M.6
Bonzel, K.E.7
Seeman, T.8
Sulakova, T.9
Kuwertz-Broking, E.10
Gregoric, A.11
Palcoux, J.B.12
Tasic, V.13
Manz, F.14
Scharer, K.15
Seyberth, H.W.16
Konrad, M.17
-
10
-
-
33751097262
-
Mutations in the tight-junction gene Claudin 19 (CLDN 19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement
-
Konrad M, Schaller A, Seelow D, Pandey AV, Waldegger S, Lesslauer A, Vitzthum H, Suzuki Y, Luk JM, Becker C, Schlingmann KP, Schmid M, Rodriguez-Soriano J, Ariceta G, Cano F, Enriquez R, Juppner H, Bakkaloglu SA, Hediger MA, Gallati S, Neuhauss SC, Nurnberg P, Weber S (2006) Mutations in the tight-junction gene Claudin 19 (CLDN 19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. Am J Hum Genet 79:949-957
-
(2006)
Am J Hum Genet
, vol.79
, pp. 949-957
-
-
Konrad, M.1
Schaller, A.2
Seelow, D.3
Pandey, A.V.4
Waldegger, S.5
Lesslauer, A.6
Vitzthum, H.7
Suzuki, Y.8
Luk, J.M.9
Becker, C.10
Schlingmann, K.P.11
Schmid, M.12
Rodriguez-Soriano, J.13
Ariceta, G.14
Cano, F.15
Enriquez, R.16
Juppner, H.17
Bakkaloglu, S.A.18
Hediger, M.A.19
Gallati, S.20
Neuhauss, S.C.21
Nurnberg, P.22
Weber, S.23
more..
-
11
-
-
33748690952
-
Paracellin-1 gene mutation with multiple congenital abnormalities
-
Turkmen M, Kasap B, Soylu A, Bober E, Konrad M, Kavukcu S (2006) Paracellin-1 gene mutation with multiple congenital abnormalities. Pediatr Nephrol 21:1776-1778
-
(2006)
Pediatr Nephrol
, vol.21
, pp. 1776-1778
-
-
Turkmen, M.1
Kasap, B.2
Soylu, A.3
Bober, E.4
Konrad, M.5
Kavukcu, S.6
-
12
-
-
33748776549
-
An unusual patient with hypercalciuria, recurrent nephrolithiasis, hypomagnesemia and G227R mutation of Paracellin-1. An unusual patient with hypercalciuria and hypomagnesemia unresponsive to thiazide diuretics
-
Kutluturk F, Temel B, Uslu B, Aral F, Azezli A, Orhan Y, Konrad M, Ozbey N (2006) An unusual patient with hypercalciuria, recurrent nephrolithiasis, hypomagnesemia and G227R mutation of Paracellin-1. An unusual patient with hypercalciuria and hypomagnesemia unresponsive to thiazide diuretics. Horm Res 66:175-181
-
(2006)
Horm Res
, vol.66
, pp. 175-181
-
-
Kutluturk, F.1
Temel, B.2
Uslu, B.3
Aral, F.4
Azezli, A.5
Orhan, Y.6
Konrad, M.7
Ozbey, N.8
-
13
-
-
0036956994
-
Follow-up of five patients with FHHNC due to mutations in the paracellin-1 gene
-
Wolf MTF, Dötsch J, Konrad M, Böswald M, Rascher W (2002) Follow-up of five patients with FHHNC due to mutations in the paracellin-1 gene. Pediatr Nephrol 17:602-608
-
(2002)
Pediatr Nephrol
, vol.17
, pp. 602-608
-
-
Wolf, M.T.F.1
Dötsch, J.2
Konrad, M.3
Böswald, M.4
Rascher, W.5
-
14
-
-
0348161392
-
Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNC
-
Tajima T, Nakae J, Fujieda K (2003) Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNC. Pediatr Nephrol 18:1280-1282
-
(2003)
Pediatr Nephrol
, vol.18
, pp. 1280-1282
-
-
Tajima, T.1
Nakae, J.2
Fujieda, K.3
-
15
-
-
0034035632
-
Should dietary calcium and protein be restricted in patients with nephrolithiasis?
-
Martini LA, Wood RJ (2000) Should dietary calcium and protein be restricted in patients with nephrolithiasis? Nutr Rev 58:111-117
-
(2000)
Nutr Rev
, vol.58
, pp. 111-117
-
-
Martini, L.A.1
Wood, R.J.2
|