-
1
-
-
0030782409
-
Mitochondrial medicine
-
Chinnery PF, Turnbull DM. Mitochondrial medicine. QJM. 1997; 90: 657-667.
-
(1997)
QJM
, vol.90
, pp. 657-667
-
-
Chinnery, P.F.1
Turnbull, D.M.2
-
2
-
-
0037972522
-
Mitochondrial respiratory-chain diseases
-
DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med. 2003; 348: 2656-2668.
-
(2003)
N Engl J Med
, vol.348
, pp. 2656-2668
-
-
DiMauro, S.1
Schon, E.A.2
-
3
-
-
0033735912
-
Focal segmental glomerulosclerosis associated with mitochondrial cytopathy
-
Doleris LM, Hill GS, Chedin P, Nochy D, Bellanne-Chantelot C, Hanslik T, Bedrossian J, Caillat-Zucman S, Cahen- Varsaux J, Bariety J. Focal segmental glomerulosclerosis associated with mitochondrial cytopathy. Kidney Int. 2000; 58: 1851-1858.
-
(2000)
Kidney Int
, vol.58
, pp. 1851-1858
-
-
Doleris, L.M.1
Hill, G.S.2
Chedin, P.3
Nochy, D.4
Bellanne-Chantelot, C.5
Hanslik, T.6
Bedrossian, J.7
Caillat-Zucman, S.8
Cahen- Varsaux, J.9
Bariety, J.10
-
4
-
-
0025009303
-
Kearns-Sayre syndrome presenting as renal tubular acidosis
-
Eviatar L, Shanske S, Gauthier B, Abrams C, Maytal J, Slavin M, Valderrama E, DiMauro S. Kearns-Sayre syndrome presenting as renal tubular acidosis. Neurology. 1990; 40: 1761-1763.
-
(1990)
Neurology
, vol.40
, pp. 1761-1763
-
-
Eviatar, L.1
Shanske, S.2
Gauthier, B.3
Abrams, C.4
Maytal, J.5
Slavin, M.6
Valderrama, E.7
DiMauro, S.8
-
5
-
-
0025314193
-
Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome
-
Goto Y, Itami N, Kajii N, Tochimaru H, Endo M, Horai S. Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome. J Pediatr. 1990; 116: 904-910.
-
(1990)
J Pediatr
, vol.116
, pp. 904-910
-
-
Goto, Y.1
Itami, N.2
Kajii, N.3
Tochimaru, H.4
Endo, M.5
Horai, S.6
-
6
-
-
0023922924
-
Hyporeninemic hypoaldosteronism in diabetic patients with chronic renal failure
-
Grande Villoria J, Macias Nunez JF, Miralles JM, De Castro del Pozo S, Tabernero Romo JM. Hyporeninemic hypoaldosteronism in diabetic patients with chronic renal failure. Am J Nephrol. 1988; 8: 127-137.
-
(1988)
Am J Nephrol
, vol.8
, pp. 127-137
-
-
Grande Villoria, J.1
Macias Nunez, J.F.2
Miralles, J.M.3
De Castro del Pozo, S.4
Tabernero Romo, J.M.5
-
7
-
-
0035072946
-
Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu(UUR) gene mutation
-
Hotta O, Inoue CN, Miyabayashi S, Furuta T, Takeuchi A, Taguma Y. Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu(UUR) gene mutation. Kidney Int. 2001; 59: 1236-1243.
-
(2001)
Kidney Int
, vol.59
, pp. 1236-1243
-
-
Hotta, O.1
Inoue, C.N.2
Miyabayashi, S.3
Furuta, T.4
Takeuchi, A.5
Taguma, Y.6
-
8
-
-
17844362448
-
Prevalence of A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA (Leu(UUR)) gene in Japanese patients with diabetes mellitus and end-stage renal disease
-
Iwasaki N, Babazono T, Tsuchiya K, Tomonaga O, Suzuki A, Togashi M, Ujihara N, Sakka Y, Yokokawa H, Ogata M, Nihei H, Iwamoto Y. Prevalence of A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA (Leu(UUR)) gene in Japanese patients with diabetes mellitus and end-stage renal disease. J Hum Genet. 2001; 46: 330-334.
-
(2001)
J Hum Genet
, vol.46
, pp. 330-334
-
-
Iwasaki, N.1
Babazono, T.2
Tsuchiya, K.3
Tomonaga, O.4
Suzuki, A.5
Togashi, M.6
Ujihara, N.7
Sakka, Y.8
Yokokawa, H.9
Ogata, M.10
Nihei, H.11
Iwamoto, Y.12
-
9
-
-
85190698883
-
-
Mutation in mitochondrial tRNA (LeuUUR, gene associated with progressive kidney disease. J Am Soc Nephrol
-
Jansen JJ, Maassen JA, van der Woude FJ, Lemmink HA, van den Ouweland JM, t'Hart LM, Smeets HJ, Bruijn JA, Lemkes HH. Mutation in mitochondrial tRNA (Leu(UUR)) gene associated with progressive kidney disease. J Am Soc Nephrol. 1997; 8: 1118-1124.
-
(1997)
Jansen JJ, Maassen JA, van der Woude FJ, Lemmink HA, van den Ouweland JM, t'Hart LM, Smeets HJ, Bruijn JA, Lemkes HH
, vol.8
, pp. 1118-1124
-
-
-
10
-
-
0030800047
-
Alternative, noninvasive tissues for quantitative screening of mutant mitochondrial DNA
-
Lee-Jun C, Wong C-WL. Alternative, noninvasive tissues for quantitative screening of mutant mitochondrial DNA. Clin Chem. 1997; 43: 1241-1243.
-
(1997)
Clin Chem
, vol.43
, pp. 1241-1243
-
-
Lee-Jun, C.1
Wong, C.-W.L.2
-
11
-
-
0026621897
-
Partial deficiency of cytochrome c oxidase with isolated proximal renal tubular acidosis and hypercalciuria
-
Matsutani H, Mizusawa Y, Shimoda M, Niimura F, Takeda A, Shimohira M, Iwakawa Y. Partial deficiency of cytochrome c oxidase with isolated proximal renal tubular acidosis and hypercalciuria. Child Nephrol Urol. 1992; 12: 221-224.
-
(1992)
Child Nephrol Urol
, vol.12
, pp. 221-224
-
-
Matsutani, H.1
Mizusawa, Y.2
Shimoda, M.3
Niimura, F.4
Takeda, A.5
Shimohira, M.6
Iwakawa, Y.7
-
12
-
-
0031000696
-
The kidney in mitochondrial cytopathies
-
Niaudel P, Rotig A. The kidney in mitochondrial cytopathies. Kidney Int. 1997; 51: 1000-1007.
-
(1997)
Kidney Int
, vol.51
, pp. 1000-1007
-
-
Niaudel, P.1
Rotig, A.2
-
13
-
-
0030966589
-
Mitochondrial cytopathies and renal tubular acidosis
-
Pintos-Morell G. Mitochondrial cytopathies and renal tubular acidosis. Pediatr Nephrol. 1997; 11: 386.
-
(1997)
Pediatr Nephrol
, vol.11
, pp. 386
-
-
Pintos-Morell, G.1
-
14
-
-
0028258316
-
Mitochondrial DNA deletion: A cause of chronic tubulointerstitial nephropathy
-
Szabolcs MJ, Seigle R, Shanske S, Bonilla E, DiMauro S, D'Agati V. Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy. Kidney Int. 1994; 45: 1389-1396.
-
(1994)
Kidney Int
, vol.45
, pp. 1389-1396
-
-
Szabolcs, M.J.1
Seigle, R.2
Shanske, S.3
Bonilla, E.4
DiMauro, S.5
D'Agati, V.6
-
15
-
-
0035091959
-
Tubulointerstitial nephritis associated with a novel mitochondrial point mutation
-
Tzen CY, Tsai JD, Wu TY, Chen BF, Chen ML, Lin SP, Chen SC. Tubulointerstitial nephritis associated with a novel mitochondrial point mutation. Kidney Int. 2001; 59: 846-854.
-
(2001)
Kidney Int
, vol.59
, pp. 846-854
-
-
Tzen, C.Y.1
Tsai, J.D.2
Wu, T.Y.3
Chen, B.F.4
Chen, M.L.5
Lin, S.P.6
Chen, S.C.7
-
16
-
-
0030749664
-
Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: A clinical, biochemical, and molecular study in six families
-
Uziel G, Moroni I, Lamantea E, Fratta GM, Ciceri E, Carrara F, Zeviani M. Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. J Neurol Neurosurg Psychiatry. 1997; 63: 16-22.
-
(1997)
J Neurol Neurosurg Psychiatry
, vol.63
, pp. 16-22
-
-
Uziel, G.1
Moroni, I.2
Lamantea, E.3
Fratta, G.M.4
Ciceri, E.5
Carrara, F.6
Zeviani, M.7
-
17
-
-
0030800047
-
Alternative, noninvasive tissues for quantitative screening of mutant mitochondrial DNA
-
Wong LJC, Lam CW. Alternative, noninvasive tissues for quantitative screening of mutant mitochondrial DNA. Clin Chem. 1997; 43: 1241-1243.
-
(1997)
Clin Chem
, vol.43
, pp. 1241-1243
-
-
Wong, L.J.C.1
Lam, C.W.2
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