-
1
-
-
0031894922
-
Mitochondrial disorders and the kidney
-
Niaudet P. Mitochondrial disorders and the kidney. Arch Dis Child 78: 387–390, 1998.
-
(1998)
Arch Dis Child
, vol.78
, pp. 387-390
-
-
Niaudet, P.1
-
2
-
-
0033546906
-
Age and cause of death in mitochondrial diseases
-
Klopstock T, Jaksch M, Gasser T. Age and cause of death in mitochondrial diseases. Neurology 53: 855–857, 1999.
-
(1999)
Neurology
, vol.53
, pp. 855-857
-
-
Klopstock, T.1
Jaksch, M.2
Gasser, T.3
-
3
-
-
0023889387
-
de Toni-Fanconi-Debre syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency
-
Ogier H, Lombes A, Scholte HR, et al. de Toni-Fanconi-Debre syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency. J Pediatr 112: 734–739, 1988.
-
(1988)
J Pediatr
, vol.112
, pp. 734-739
-
-
Ogier, H.1
Lombes, A.2
Scholte, H.R.3
-
4
-
-
0026041854
-
Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion
-
Majander A, Suomalainen A, Vettenranta K, et al. Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion. Pediatr Res 30: 327–330, 1991.
-
(1991)
Pediatr Res
, vol.30
, pp. 327-330
-
-
Majander, A.1
Suomalainen, A.2
Vettenranta, K.3
-
5
-
-
0026569283
-
Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus and cerebellar ataxia
-
Rotig A, Bessis JL, Romero N, et al. Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus and cerebellar ataxia. Am J Hum Genet 50: 364–370, 1992.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 364-370
-
-
Rotig, A.1
Bessis, J.L.2
Romero, N.3
-
6
-
-
0028288589
-
Deletion of the mitochondrial DNA in a case of de Toni-Debre-Fanconi syndrome and Pearson syndrome
-
Niaudet P, Heidet L, Munnich A, et al. Deletion of the mitochondrial DNA in a case of de Toni-Debre-Fanconi syndrome and Pearson syndrome. Pediatr Nephrol 8: 164–168, 1994.
-
(1994)
Pediatr Nephrol
, vol.8
, pp. 164-168
-
-
Niaudet, P.1
Heidet, L.2
Munnich, A.3
-
7
-
-
0029046683
-
Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain
-
Morris AA, Taylor RW, Birch-Machin MA, et al. Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain. Pediatr Nephrol 9: 407–411, 1995.
-
(1995)
Pediatr Nephrol
, vol.9
, pp. 407-411
-
-
Morris, A.A.1
Taylor, R.W.2
Birch-Machin, M.A.3
-
8
-
-
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 45: 1388–1396, 1994.
-
(1994)
Kidney Int
, vol.45
, pp. 1388-1396
-
-
Szabolcs, M.J.1
Seigle, R.2
Shanske, S.3
Bonilla, E.4
DiMauro, S.5
D’Agati, V.6
-
9
-
-
0028908586
-
Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis
-
Rotig A, Goutieres F, Niaudet P, et al. Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis. J Pediatr 126: 597–601, 1995.
-
(1995)
J Pediatr
, vol.126
, pp. 597-601
-
-
Rotig, A.1
Goutieres, F.2
Niaudet, P.3
-
10
-
-
0027939581
-
Pancreatic beta-cell secretory defect associated with mitochondrial point mutation of the tRNALEU(UUR) gene: a study in seven families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)
-
Suzuki S, Hinokio Y, Hirai S, et al. Pancreatic beta-cell secretory defect associated with mitochondrial point mutation of the tRNALEU(UUR) gene: a study in seven families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). Diabetologia 37: 818–825, 1994.
-
(1994)
Diabetologia
, vol.37
, pp. 818-825
-
-
Suzuki, S.1
Hinokio, Y.2
Hirai, S.3
-
11
-
-
10544228132
-
Mitochondrial encephalomyopathies preceded by de-Toni-Debre-Fanconi syndrome or focal segmental glomerulosclerosis
-
Mochizuki H, Joh K, Kawame H, et al. Mitochondrial encephalomyopathies preceded by de-Toni-Debre-Fanconi syndrome or focal segmental glomerulosclerosis. Clin Nephrol 46: 347–352, 1996.
-
(1996)
Clin Nephrol
, vol.46
, pp. 347-352
-
-
Mochizuki, H.1
Joh, K.2
Kawame, H.3
-
12
-
-
0031774828
-
A case of mitochondrial cytopathy with a typical point mutation for MELAS, presenting with severe focal-segmental glomerulosclerosis as main clinical manifestation
-
Kurogouchi F, Oguchi T, Mawatari E, et al. A case of mitochondrial cytopathy with a typical point mutation for MELAS, presenting with severe focal-segmental glomerulosclerosis as main clinical manifestation. Am J Nephrol 18: 551–556, 1998.
-
(1998)
Am J Nephrol
, vol.18
, pp. 551-556
-
-
Kurogouchi, F.1
Oguchi, T.2
Mawatari, E.3
-
13
-
-
0032804448
-
Hereditary glomerulopathy associated with a mitochondrial tRNA (Leu) gene mutation
-
Cheong HI, Chae JH, Kim JS, et al. Hereditary glomerulopathy associated with a mitochondrial tRNA (Leu) gene mutation. Pediatr Nephrol 13: 477–480, 1999.
-
(1999)
Pediatr Nephrol
, vol.13
, pp. 477-480
-
-
Cheong, H.I.1
Chae, J.H.2
Kim, J.S.3
-
14
-
-
0033735912
-
Focal segmental glomerulosclerosis associated with mitochondrial cytopathy
-
Doleris LM, Hill GS, Chedin P, et al. Focal segmental glomerulosclerosis associated with mitochondrial cytopathy. Kidney Int 58: 1851-1858, 2000.
-
(2000)
Kidney Int
, vol.58
, pp. 1851-1858
-
-
Doleris, L.M.1
Hill, G.S.2
Chedin, P.3
-
15
-
-
0035404929
-
An autopsy case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome with chronic renal failure
-
Yanagihara C, Oyama A, Tanaka M, Nakaji K, Nishimura Y. An autopsy case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome with chronic renal failure. Intern Med 40: 662–665, 2001.
-
(2001)
Intern Med
, vol.40
, pp. 662-665
-
-
Yanagihara, C.1
Oyama, A.2
Tanaka, M.3
Nakaji, K.4
Nishimura, Y.5
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