-
1
-
-
0000297271
-
Oxidative phosphorylation diseases
-
Scriver CR, Beaudet AL, Sly WS, et al, editors. New York: McGraw Hill
-
Shoffner JM. Oxidative phosphorylation diseases. In: Scriver CR, Beaudet AL, Sly WS, et al, editors. The metabolic and molecular basis of Inherited Diseases. 8th edition. New York: McGraw Hill; 2001, vol II, p. 2367-423.
-
(2001)
The Metabolic and Molecular Basis of Inherited Diseases. 8th Edition
, vol.2
, pp. 2367-2423
-
-
Shoffner, J.M.1
-
2
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature 1981;290:457-65.
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Anderson, S.1
Bankier, A.T.2
Barrell, B.G.3
-
3
-
-
0026587335
-
Mitochondrial genetics: A paradigm for aging and degenerative diseases?
-
Wallace DC. Mitochondrial genetics: A paradigm for aging and degenerative diseases? Science 1992;256:628-32.
-
(1992)
Science
, vol.256
, pp. 628-632
-
-
Wallace, D.C.1
-
4
-
-
0030700599
-
Protean manifestations of mitochondrial diseases: A mini review
-
Kerr DS. Protean manifestations of mitochondrial diseases: a mini review. J Pediatr Hematol Oncol 1997;19:279-86.
-
(1997)
J Pediatr Hematol Oncol
, vol.19
, pp. 279-286
-
-
Kerr, D.S.1
-
5
-
-
0034956801
-
Epidemiology and treatment of mitochondrial disorders
-
Chinnery PF, Turnbull DM. Epidemiology and treatment of mitochondrial disorders. Am J Med genet 2001; 06:94-101.
-
(2001)
Am J Med Genet
, vol.6
, pp. 94-101
-
-
Chinnery, P.F.1
Turnbull, D.M.2
-
6
-
-
0029778849
-
Clinical presentation of mitochondrial disorders in childhood
-
Munnich A, Rotig A, Chretien D, et al. Clinical presentation of mitochondrial disorders in childhood. J Inherit Metab Dis 1996;19:521-7.
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 521-527
-
-
Munnich, A.1
Rotig, A.2
Chretien, D.3
-
7
-
-
0005712835
-
Mitochondrial hepatopathies
-
Suchy FJ, Sokol RJ, Balistreri WF, editors. Philadelphia: Lippincott, Williams & Wilkins
-
Sokol RJ, Treem Wr. Mitochondrial hepatopathies. In: Suchy FJ, Sokol RJ, Balistreri WF, editors. Liver disease in children. 2nd edition. Philadelphia: Lippincott, Williams & Wilkins: 2001. p. 787-810.
-
(2001)
Liver Disease in Children. 2nd Edition
, pp. 787-810
-
-
Sokol, R.J.1
Treem, Wr.2
-
8
-
-
0034700807
-
Mitochondrial respiratory chain disorders I: Mitochondrial DNA defects
-
Leonard JV, Schapira AH. Mitochondrial respiratory chain disorders I: mitochondrial DNA defects. Lancet 2000;355:299-304.
-
(2000)
Lancet
, vol.355
, pp. 299-304
-
-
Leonard, J.V.1
Schapira, A.H.2
-
9
-
-
0032820166
-
Whatever happened to Reye's syndrome? Did it ever really exist?
-
Orlowski JP. Whatever happened to Reye's syndrome? Did it ever really exist? Crit Care Med 1999;27:1582-7.
-
(1999)
Crit Care Med
, vol.27
, pp. 1582-1587
-
-
Orlowski, J.P.1
-
10
-
-
0032964213
-
The mechanism of inhibition of beta- Oxidation by aspirin metabolites in skin fibroblasts from Reye's syndrome patients and controls
-
Glasgow JF, Middleton B, Moore R, et al. The mechanism of inhibition of beta- oxidation by aspirin metabolites in skin fibroblasts from Reye's syndrome patients and controls. Biochem Biophys Acta 1999;1454:115-25.
-
(1999)
Biochem Biophys Acta
, vol.1454
, pp. 115-125
-
-
Glasgow, J.F.1
Middleton, B.2
Moore, R.3
-
11
-
-
0014336231
-
Mitochondrial and fatty changes in hepatocytes of patients with Wilson's disease
-
Sternlieb I. Mitochondrial and fatty changes in hepatocytes of patients with Wilson's disease. Gastroenterology 1968;55:354-67.
-
(1968)
Gastroenterology
, vol.55
, pp. 354-367
-
-
Sternlieb, I.1
-
12
-
-
0034109410
-
Recognition, diagnosis and management of Wilson's disease
-
Brewer GJ. Recognition, diagnosis and management of Wilson's disease. Proc Soc Ex Biol Med 2000;223:39-46.
-
(2000)
Proc Soc Ex Biol Med
, vol.223
, pp. 39-46
-
-
Brewer, G.J.1
-
13
-
-
0030756162
-
Premature oxidative aging of hepatic mitochondrial DNA in Wilson's disease
-
Mansouri A, Gaou I, Fromenty B, et al. Premature oxidative aging of hepatic mitochondrial DNA in Wilson's disease. Gastroenterology 1997;113:599-605.
-
(1997)
Gastroenterology
, vol.113
, pp. 599-605
-
-
Mansouri, A.1
Gaou, I.2
Fromenty, B.3
-
14
-
-
0031981232
-
Iron, oxidative stress and liver fibrogenesis
-
Pietrangelo A. Iron, oxidative stress and liver fibrogenesis. J Hepatol 1998;28:8-13.
-
(1998)
J Hepatol
, vol.28
, pp. 8-13
-
-
Pietrangelo, A.1
-
15
-
-
0027972568
-
Valproate- Induced hepatic failure in a case of cytochrome c oxidase deficiency
-
Chabrol B, Mancini J, Chretien D, et al. Valproate- induced hepatic failure in a case of cytochrome c oxidase deficiency. Eur J Pediatr 1994;153:133-5.
-
(1994)
Eur J Pediatr
, vol.153
, pp. 133-135
-
-
Chabrol, B.1
Mancini, J.2
Chretien, D.3
-
16
-
-
0028783393
-
Mitochondrial toxicity- New adverse drug effects
-
Swartz MN. Mitochondrial toxicity- new adverse drug effects. N Engl J Med 1995; 333; 1147-8.
-
(1995)
N Engl J Med
, vol.333
, pp. 1147-1148
-
-
Swartz, M.N.1
-
17
-
-
0028817865
-
Hepatic failure and lactic acidosis due to fialuridine (FIAU), an investigational nucleoside analogue for chronic hepatitis B
-
McKenzie R, Fried MW, Sallie R, et al. Hepatic failure and lactic acidosis due to fialuridine (FIAU), an investigational nucleoside analogue for chronic hepatitis B. N Engl J Med 1995;333:1099-105.
-
(1995)
N Engl J Med
, vol.333
, pp. 1099-1105
-
-
McKenzie, R.1
Fried, M.W.2
Sallie, R.3
-
18
-
-
0037087075
-
Severe nucleoside-associated lactic acidosis in human immunodeficiency virus-infected patients; report of 12 cases and review of the literature
-
Falco V, Rodriguez D, Ribera E, et al. Severe nucleoside-associated lactic acidosis in human immunodeficiency virus-infected patients; report of 12 cases and review of the literature. Clin Infect Dis 2002;34:838-46.
-
(2002)
Clin Infect Dis
, vol.34
, pp. 838-846
-
-
Falco, V.1
Rodriguez, D.2
Ribera, E.3
-
19
-
-
0141718339
-
Induction of permeability transition in hepatic mitochondria by physiologic bile acid concentrations
-
Sokol RJ, Devereaux MW, Straka MS, et al. Induction of permeability transition in hepatic mitochondria by physiologic bile acid concentrations. Hepatology 1997;26:188A.
-
(1997)
Hepatology
, vol.26
-
-
Sokol, R.J.1
Devereaux, M.W.2
Straka, M.S.3
-
20
-
-
20144364416
-
Non- Alcoholic steatohepatitis
-
Das K, Kar P. Non- alcoholic steatohepatitis. J Assoc Physicians India 2005;53:195-99.
-
(2005)
J Assoc Physicians India
, vol.53
, pp. 195-199
-
-
Das, K.1
Kar, P.2
-
21
-
-
0025178612
-
The natural history of non- Alcoholic steatohepatitis: A follow up study of 42 patients for up to 21 years
-
Powell EE, Cooksley WG, Hanson R, et al. The natural history of non- alcoholic steatohepatitis: A follow up study of 42 patients for up to 21 years. Hepatology 1990;11:74-80.
-
(1990)
Hepatology
, vol.11
, pp. 74-80
-
-
Powell, E.E.1
Cooksley, W.G.2
Hanson, R.3
-
22
-
-
0027679504
-
Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): A light and electron microscopic study of the liver
-
Bioulac-Sage P, Parrot- Roulaud F, Mazat JP, et al. fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): a light and electron microscopic study of the liver. Hepatology 1993;18:839-46.
-
(1993)
Hepatology
, vol.18
, pp. 839-846
-
-
Bioulac-Sage, P.1
Parrot- Roulaud, F.2
Mazat, J.P.3
-
23
-
-
0030817294
-
Neonatal and delayed- Onset liver involvement in disorders of oxidative phosphorylation
-
Cormier- Daire V, Chretien D, Rustin P, et al. Neonatal and delayed- onset liver involvement in disorders of oxidative phosphorylation. J Peditr 1997;130:817-22.
-
(1997)
J Peditr
, vol.130
, pp. 817-822
-
-
Cormier- Daire, V.1
Chretien, D.2
Rustin, P.3
-
24
-
-
0029869935
-
Depletion of mitochondrial DNA in a family with fatal neonatal liver disease
-
Bakker HD, Scholte HR, Dingemans KP, et al. Depletion of mitochondrial DNA in a family with fatal neonatal liver disease. J Pediatr 1996;128:683-7.
-
(1996)
J Pediatr
, vol.128
, pp. 683-687
-
-
Bakker, H.D.1
Scholte, H.R.2
Dingemans, K.P.3
-
25
-
-
0032923497
-
Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis
-
Ducluzeau PH, Lachaux A, Bouvier R, et al. Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis. J Hepatol 1999;30:149-55.
-
(1999)
J Hepatol
, vol.30
, pp. 149-155
-
-
Ducluzeau, P.H.1
Lachaux, A.2
Bouvier, R.3
-
27
-
-
0031971261
-
Liver failure associated with mitochondrial DNA depletion
-
Morris AA, Taanman JW, Blake J, et al. Liver failure associated with mitochondrial DNA depletion. J Hepatol 1998;28:556-63.
-
(1998)
J Hepatol
, vol.28
, pp. 556-563
-
-
Morris, A.A.1
Taanman, J.W.2
Blake, J.3
-
28
-
-
0033199970
-
Microvesicular steatosis, hemosiderosis and rapid development of liver cirrhosis in a patient with Pearson's syndrome
-
Krahen buhl S, Kleinle S, Henz S, et al. Microvesicular steatosis, hemosiderosis and rapid development of liver cirrhosis in a patient with Pearson's syndrome. J Hepatol 1999;31:550-5.
-
(1999)
J Hepatol
, vol.31
, pp. 550-555
-
-
Krahen Buhl, S.1
Kleinle, S.2
Henz, S.3
-
29
-
-
0029147133
-
Spectrum of mitochondrial DNA rearrangement in the Pearson's marrowpancreas syndrome
-
Rotig A, Bourgeron T, Chretien D, et al. Spectrum of mitochondrial DNA rearrangement in the Pearson's marrowpancreas syndrome. Hum Mol Genet 1995;4:1327-30.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1327-1330
-
-
Rotig, A.1
Bourgeron, T.2
Chretien, D.3
-
30
-
-
0033497512
-
Liver disease in Navajo neuropathy
-
Holve S, Hu D, Shub M, et al. Liver disease in Navajo neuropathy. J Pediatr 1999;135:482-93.
-
(1999)
J Pediatr
, vol.135
, pp. 482-493
-
-
Holve, S.1
Hu, D.2
Shub, M.3
-
31
-
-
0034950509
-
Navajo Neurohepatopathy: A mitochondrial DNA depletion syndrome?
-
Vu TH, Tanji K, Holve SA, et al. Navajo Neurohepatopathy: a mitochondrial DNA depletion syndrome? Hepatology 2001;34:116-20.
-
(2001)
Hepatology
, vol.34
, pp. 116-120
-
-
Vu, T.H.1
Tanji, K.2
Holve, S.A.3
-
32
-
-
0032976655
-
Liver disease in the pregnant patient
-
Riely CA. Liver disease in the pregnant patient. Am J Gastroenterol 1999;94:1728-32.
-
(1999)
Am J Gastroenterol
, vol.94
, pp. 1728-1732
-
-
Riely, C.A.1
-
33
-
-
0029939378
-
Clinical presentations and laboratory investigations in respiratory chain deficiency
-
Munnich A, Rotig A, Chretien D, et al. Clinical presentations and laboratory investigations in respiratory chain deficiency. Eur J Pediatr 1996;155:262-74.
-
(1996)
Eur J Pediatr
, vol.155
, pp. 262-274
-
-
Munnich, A.1
Rotig, A.2
Chretien, D.3
-
34
-
-
0035667515
-
Laboratory approach to mitochondrial diseases
-
Parra D, Gonzalez A, Mugueta C, et al. Laboratory approach to mitochondrial diseases. J Physiol Biochem 2001;57:267-84.
-
(2001)
J Physiol Biochem
, vol.57
, pp. 267-284
-
-
Parra, D.1
Gonzalez, A.2
Mugueta, C.3
-
35
-
-
0141682697
-
Gastrointestinal manifestations of mitochondrial disease
-
Gillis LA, Sokol RJ. Gastrointestinal manifestations of mitochondrial disease. Gastroenterol Clin N Am 2003;32:789-817.
-
(2003)
Gastroenterol Clin N Am
, vol.32
, pp. 789-817
-
-
Gillis, L.A.1
Sokol, R.J.2
-
36
-
-
0031983188
-
Vitamin E reduces oxidant injury to mitochondria and the hepatotoxicity of taurochenodeoxycholic acid in the rat
-
Sokol RJ, McKim JM JR., Goff MC, et al. Vitamin E reduces oxidant injury to mitochondria and the hepatotoxicity of taurochenodeoxycholic acid in the rat. Gastroenterology 1998;114:164-74.
-
(1998)
Gastroenterology
, vol.114
, pp. 164-174
-
-
Sokol, R.J.1
McKim Jr., J.M.2
Goff, M.C.3
-
37
-
-
0032722918
-
Liver transplantation in mitochondrial respiratory chain disorders
-
Sokal EM, Sokol R, Cormier V, et al. Liver transplantation in mitochondrial respiratory chain disorders. Eur J Pediatr 1999;158 (suppl 2):S81-4.
-
(1999)
Eur J Pediatr
, vol.158
, Issue.2 SUPPL.
-
-
Sokal, E.M.1
Sokol, R.2
Cormier, V.3
|