-
2
-
-
0032860678
-
Mitochondrial respiratory chain disorders and the liver
-
Morris A.A. Mitochondrial respiratory chain disorders and the liver. Liver 19 (1999) 357-368
-
(1999)
Liver
, vol.19
, pp. 357-368
-
-
Morris, A.A.1
-
3
-
-
0037069229
-
Diagnostic criteria for respiratory chain disorders in adults and children
-
Bernier F.P., Boneh A., Dennett X., Chow C.W., Cleary M.A., and Thorburn D.R. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 59 (2002) 1406-1411
-
(2002)
Neurology
, vol.59
, pp. 1406-1411
-
-
Bernier, F.P.1
Boneh, A.2
Dennett, X.3
Chow, C.W.4
Cleary, M.A.5
Thorburn, D.R.6
-
4
-
-
0027931039
-
Biochemical and molecular investigations in respiratory chain deficiencies
-
Rustin P., Chretien D., Bourgeron T., Gerard B., Rotig A., Saudubray J.M., et al. Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta 228 (1994) 35-51
-
(1994)
Clin Chim Acta
, vol.228
, pp. 35-51
-
-
Rustin, P.1
Chretien, D.2
Bourgeron, T.3
Gerard, B.4
Rotig, A.5
Saudubray, J.M.6
-
5
-
-
0031747955
-
Clinical manifestations of mitochondrial DNA depletion
-
Vu T.H., Sciacco M., Tanji K., Nichter C., Bonilla E., Chatkupt S., et al. Clinical manifestations of mitochondrial DNA depletion. Neurology 50 (1998) 1783-1790
-
(1998)
Neurology
, vol.50
, pp. 1783-1790
-
-
Vu, T.H.1
Sciacco, M.2
Tanji, K.3
Nichter, C.4
Bonilla, E.5
Chatkupt, S.6
-
6
-
-
33845382806
-
Nonparametric estimation from incomplete observations
-
Kaplan E.L., and Meier P. Nonparametric estimation from incomplete observations. J Am Stat Assoc 53 (1958) 457-481
-
(1958)
J Am Stat Assoc
, vol.53
, pp. 457-481
-
-
Kaplan, E.L.1
Meier, P.2
-
7
-
-
0037897337
-
A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis
-
Haut S., Brivet M., Touati G., Rustin P., Lebon S., García-Cazorla A., et al. A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis. Hum Genet 113 (2003) 118-122
-
(2003)
Hum Genet
, vol.113
, pp. 118-122
-
-
Haut, S.1
Brivet, M.2
Touati, G.3
Rustin, P.4
Lebon, S.5
García-Cazorla, A.6
-
8
-
-
0038621826
-
A mutation in mitochondrial DNA-encoded cytochrome oxidase II gene in a child with Alpers-Huttenlocher-like disease
-
Uusimaa J., Finnila S., Vainionpaa L., Karppa M., Herva R., Rantala H., et al. A mutation in mitochondrial DNA-encoded cytochrome oxidase II gene in a child with Alpers-Huttenlocher-like disease. Pediatrics 111 (2003) e262-e268
-
(2003)
Pediatrics
, vol.111
-
-
Uusimaa, J.1
Finnila, S.2
Vainionpaa, L.3
Karppa, M.4
Herva, R.5
Rantala, H.6
-
9
-
-
0030780958
-
Mitochondrial respiratory chain succinate-cytochrome-c oxidoreductase deficiency and hepatic cirrhosis
-
Sewell A.C., Herwig J., Bohles H.J., and Sperl W. Mitochondrial respiratory chain succinate-cytochrome-c oxidoreductase deficiency and hepatic cirrhosis. J Inherit Metab Dis 20 (1997) 837-838
-
(1997)
J Inherit Metab Dis
, vol.20
, pp. 837-838
-
-
Sewell, A.C.1
Herwig, J.2
Bohles, H.J.3
Sperl, W.4
-
10
-
-
0027955658
-
Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure
-
Edery P., Gerard B., Chretien D., Rotig A., Cerrone R., Rabier D., et al. Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure. Eur J Pediatr 153 (1994) 190-194
-
(1994)
Eur J Pediatr
, vol.153
, pp. 190-194
-
-
Edery, P.1
Gerard, B.2
Chretien, D.3
Rotig, A.4
Cerrone, R.5
Rabier, D.6
-
11
-
-
0031919126
-
Progressive cerebral degeneration of childhood with liver disease (Alpers-Huttenlocher disease) with cytochrome oxidase deficiency presenting with epilepsia partialis continua as the first clinical manifestation
-
Worle H., Kohler B., Schlote W., Winkler P., and Bastanier C.K. Progressive cerebral degeneration of childhood with liver disease (Alpers-Huttenlocher disease) with cytochrome oxidase deficiency presenting with epilepsia partialis continua as the first clinical manifestation. Clin Neuropathol 17 (1998) 63-68
-
(1998)
Clin Neuropathol
, vol.17
, pp. 63-68
-
-
Worle, H.1
Kohler, B.2
Schlote, W.3
Winkler, P.4
Bastanier, C.K.5
-
12
-
-
0033913834
-
Evidence that Alpers-Huttenlocher syndrome could be a mitohondrial disease
-
Rasmussen M., Sanengen T., Skullerud K., Kvittingen E.A., and Skjeldal O.H. Evidence that Alpers-Huttenlocher syndrome could be a mitohondrial disease. J Child Neurol 15 (2000) 473-477
-
(2000)
J Child Neurol
, vol.15
, pp. 473-477
-
-
Rasmussen, M.1
Sanengen, T.2
Skullerud, K.3
Kvittingen, E.A.4
Skjeldal, O.H.5
-
13
-
-
0034880714
-
Respiratory chain deficiency in Alpers syndrome
-
Gauthier-Villars M., Landrieu P., Cormier-Daire V., Jacquemi E., Chretien D., Rotig A., et al. Respiratory chain deficiency in Alpers syndrome. Neuropediatrics 32 (2001) 150-152
-
(2001)
Neuropediatrics
, vol.32
, pp. 150-152
-
-
Gauthier-Villars, M.1
Landrieu, P.2
Cormier-Daire, V.3
Jacquemi, E.4
Chretien, D.5
Rotig, A.6
-
14
-
-
0030817294
-
Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation
-
Cormier-Daire V., Chretien D., Rustin P., Rotig A., Dubuisson C., Jacquemin E., et al. Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation. J Pediatr 130 (1997) 817-822
-
(1997)
J Pediatr
, vol.130
, pp. 817-822
-
-
Cormier-Daire, V.1
Chretien, D.2
Rustin, P.3
Rotig, A.4
Dubuisson, C.5
Jacquemin, E.6
-
15
-
-
0034813658
-
The hepatic mitochondrial DNA depletion syndrome: ultrastructural changes in liver biopsies
-
Mandel H., Hartman C., Berkowitz D., Elpeleg O.N., Manov I., Theodore C., et al. The hepatic mitochondrial DNA depletion syndrome: ultrastructural changes in liver biopsies. Hepatology 34 (2001) 776-784
-
(2001)
Hepatology
, vol.34
, pp. 776-784
-
-
Mandel, H.1
Hartman, C.2
Berkowitz, D.3
Elpeleg, O.N.4
Manov, I.5
Theodore, C.6
-
16
-
-
0034449326
-
Severe neonatal mitochondrial cytopathy caued by isolated COX defect
-
Ruiz Escusol S., Ferreras Ames A., Rubio Morales L., Medrano Marina P., Lopez Pison J., Baldellou Vazquez A., et al. Severe neonatal mitochondrial cytopathy caued by isolated COX defect. An Esp Pediatr 52 (2000) 392-394
-
(2000)
An Esp Pediatr
, vol.52
, pp. 392-394
-
-
Ruiz Escusol, S.1
Ferreras Ames, A.2
Rubio Morales, L.3
Medrano Marina, P.4
Lopez Pison, J.5
Baldellou Vazquez, A.6
-
17
-
-
0033754154
-
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encepahlopathy
-
Valnot I., Osmond S., Gigarel N., Mehaye B., Amiel J., Cormier-Daire V., et al. Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encepahlopathy. Am J Hum Genet 67 (2000) 1104-1109
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1104-1109
-
-
Valnot, I.1
Osmond, S.2
Gigarel, N.3
Mehaye, B.4
Amiel, J.5
Cormier-Daire, V.6
-
18
-
-
6044243733
-
Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation
-
Rabinowitz S.S., Gelfond D., Chen C.K., Gloster E.S., Whitington P.F., Sacconi S., et al. Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation. J Pediatr Gastroenterol Nutr 38 (2004) 216-220
-
(2004)
J Pediatr Gastroenterol Nutr
, vol.38
, pp. 216-220
-
-
Rabinowitz, S.S.1
Gelfond, D.2
Chen, C.K.3
Gloster, E.S.4
Whitington, P.F.5
Sacconi, S.6
-
19
-
-
0029869935
-
Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease
-
Bakker H.D., Scholte H.R., Dingemans K.P., Spelbrink J.N., Wijburg F.A., and Van den Bogert C. Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease. J Pediatr 128 (1996) 683-687
-
(1996)
J Pediatr
, vol.128
, pp. 683-687
-
-
Bakker, H.D.1
Scholte, H.R.2
Dingemans, K.P.3
Spelbrink, J.N.4
Wijburg, F.A.5
Van den Bogert, C.6
-
20
-
-
0036019510
-
Depletion of the other genome mitochondrial DNA depletion syndromes in humans
-
Elpeleg O., Mandel H., and Saada A. Depletion of the other genome mitochondrial DNA depletion syndromes in humans. J Mol Med 80 (2002) 386-396
-
(2002)
J Mol Med
, vol.80
, pp. 386-396
-
-
Elpeleg, O.1
Mandel, H.2
Saada, A.3
-
21
-
-
0027679504
-
Fatal neonatal liver failure and mitochondrial cytopathy: a light and electronic microscopy of the liver
-
893-46
-
Bioulac-Sage P., Parrot-Roulaud F., Mazat J.P., Lamireau T., Coquet M., Sandler B., et al. Fatal neonatal liver failure and mitochondrial cytopathy: a light and electronic microscopy of the liver. Hepatology 18 (1993) 893-46
-
(1993)
Hepatology
, vol.18
-
-
Bioulac-Sage, P.1
Parrot-Roulaud, F.2
Mazat, J.P.3
Lamireau, T.4
Coquet, M.5
Sandler, B.6
-
22
-
-
0025784069
-
Fatal hepatic failure with lactic acidaemia: Fanconi syndrome and defective activity of succinate cytochrome c reductase
-
Vilaseca M.A., Briones P., Ribes A., Carreras E., Llacer A., and Querol J. Fatal hepatic failure with lactic acidaemia: Fanconi syndrome and defective activity of succinate cytochrome c reductase. J Inherit Metab Dis 14 (1991) 285-288
-
(1991)
J Inherit Metab Dis
, vol.14
, pp. 285-288
-
-
Vilaseca, M.A.1
Briones, P.2
Ribes, A.3
Carreras, E.4
Llacer, A.5
Querol, J.6
-
23
-
-
0024999128
-
Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome): a personal review
-
Harding B.N. Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome): a personal review. J Child Neurol 5 (1990) 273-287
-
(1990)
J Child Neurol
, vol.5
, pp. 273-287
-
-
Harding, B.N.1
-
24
-
-
2142705756
-
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion
-
Naviaux R.K., and Nguyen K.V. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol 55 (2004) 706-712
-
(2004)
Ann Neurol
, vol.55
, pp. 706-712
-
-
Naviaux, R.K.1
Nguyen, K.V.2
-
25
-
-
0036656601
-
Detection of acute cytotoxic changes in progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome) using diffusion-weighted MRI and MR spectroscopy
-
Umer S., Flemming K., Hahn A., Stephani U., and Jansen O. Detection of acute cytotoxic changes in progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome) using diffusion-weighted MRI and MR spectroscopy. J Comput Assist Tomogr 26 (2002) 641-646
-
(2002)
J Comput Assist Tomogr
, vol.26
, pp. 641-646
-
-
Umer, S.1
Flemming, K.2
Hahn, A.3
Stephani, U.4
Jansen, O.5
-
26
-
-
0037495053
-
Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease
-
Simonati A., Filosto M., Tomelleri G., Savio C., Tonin P., Polo A., et al. Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease. J Neurol 250 (2003) 702-706
-
(2003)
J Neurol
, vol.250
, pp. 702-706
-
-
Simonati, A.1
Filosto, M.2
Tomelleri, G.3
Savio, C.4
Tonin, P.5
Polo, A.6
-
27
-
-
0033967568
-
Isolated complex I deficiency in children: clinical, biochemical and genetic aspects
-
Loeffen J.L., Smeitink J.A., Trijbels J.M., Janssen A.J., Triepels R.H., Sengers R.C., et al. Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. Hum Mutat 15 (2000) 123-134
-
(2000)
Hum Mutat
, vol.15
, pp. 123-134
-
-
Loeffen, J.L.1
Smeitink, J.A.2
Trijbels, J.M.3
Janssen, A.J.4
Triepels, R.H.5
Sengers, R.C.6
-
28
-
-
0032893995
-
Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder
-
Kirby D.M., Crawford M., Cleary M.A., Dahl H.H., Dennett X., and Thorburn D.R. Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder. Neurology 52 (1999) 1255-1264
-
(1999)
Neurology
, vol.52
, pp. 1255-1264
-
-
Kirby, D.M.1
Crawford, M.2
Cleary, M.A.3
Dahl, H.H.4
Dennett, X.5
Thorburn, D.R.6
-
29
-
-
0034951707
-
Cytochrome c oxidase deficiency
-
Shoubridge E.A. Cytochrome c oxidase deficiency. Am J Med Genet 106 (2001) 46-52
-
(2001)
Am J Med Genet
, vol.106
, pp. 46-52
-
-
Shoubridge, E.A.1
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