-
1
-
-
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;19:521-527
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 521-527
-
-
Munnich, A.1
Rotig, A.2
Chretien, D.3
-
2
-
-
0032771227
-
Multiple presentation of mitochondrial disorders
-
Nissenkorn A, Zeharia A, Lev D, et al. Multiple presentation of mitochondrial disorders. Arch Dis Child. 1999;81:209-215
-
(1999)
Arch Dis Child
, vol.81
, pp. 209-215
-
-
Nissenkorn, A.1
Zeharia, A.2
Lev, D.3
-
3
-
-
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
-
5
-
-
0029744874
-
Metabolic intermediates in lactic acidosis: Compounds, samples and interpretation
-
Poggi-Travert F, Martin D, Billette de Villemeur T, et al. Metabolic intermediates in lactic acidosis: compounds, samples and interpretation. J Inherit Metab Dis. 1996;19:478-488
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 478-488
-
-
Poggi-Travert, F.1
Martin, D.2
Billette de Villemeur, T.3
-
6
-
-
33845382806
-
Nonparametric estimation from incomplete observations
-
Kaplan EL, Meier P. Nonparametric estimation from incomplete observations. J Am Stat Assoc. 1958;53:457-481
-
(1958)
J Am Stat Assoc
, vol.53
, pp. 457-481
-
-
Kaplan, E.L.1
Meier, P.2
-
8
-
-
0035204038
-
Cardiac involvement in myotonic dystrophy, Becker muscular dystrophy and mitochondrial myopathy: A five-year follow-up
-
Finsterer J, Stollberger C, Blazek G, Spahits E. Cardiac involvement in myotonic dystrophy, Becker muscular dystrophy and mitochondrial myopathy: a five-year follow-up. Can J Cardiol. 2001;17:1061-1069
-
(2001)
Can J Cardiol
, vol.17
, pp. 1061-1069
-
-
Finsterer, J.1
Stollberger, C.2
Blazek, G.3
Spahits, E.4
-
9
-
-
0034951707
-
Cytochrome c oxidase deficiency
-
Shoubridge EA. Cytochrome c oxidase deficiency. Am J Med Genet. 2001;106:46-52
-
(2001)
Am J Med Genet
, vol.106
, pp. 46-52
-
-
Shoubridge, E.A.1
-
12
-
-
0038380689
-
Mitochondrial disorders: Clinical presentation and diagnostic dilemmas
-
Smeitink JAM. Mitochondrial disorders: clinical presentation and diagnostic dilemmas. J Inherit Metab Dis. 2003;26:199-207
-
(2003)
J Inherit Metab Dis
, vol.26
, pp. 199-207
-
-
Smeitink, J.A.M.1
-
15
-
-
0034870693
-
Retrospective study of a large population of patients affected with mitochondrial disorders: Clinical, morphological and molecular genetic evaluation
-
Sciacco M, Prelle A, Comi G, et al. Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation. J Neurol. 2001;248:778-788
-
(2001)
J Neurol
, vol.248
, pp. 778-788
-
-
Sciacco, M.1
Prelle, A.2
Comi, G.3
-
16
-
-
1642471646
-
Current classification of mitochondrial disorders
-
Andreu A, DiMauro S. Current classification of mitochondrial disorders. J Neurol. 2003;250:1403-1406
-
(2003)
J Neurol
, vol.250
, pp. 1403-1406
-
-
Andreu, A.1
DiMauro, S.2
-
18
-
-
0025784069
-
Fatal hepatic failure with lactic acidaemia, Fanconi syndrome and defective activity of succinate:cytochrome c reductase
-
Vilaseca MA, Briones P, Ribes A, Carreras E, Llacer A, Querol J. Fatal hepatic failure with lactic acidaemia, Fanconi syndrome and defective activity of succinate:cytochrome c reductase. J Inherit Metab Dis. 1991;14:285-288
-
(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
-
20
-
-
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;18:839-846
-
(1993)
Hepatology
, vol.18
, pp. 839-846
-
-
Bioulac-Sage, P.1
Parrot-Roulaud, F.2
Mazat, J.P.3
-
21
-
-
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 Pediatr. 1997;130:417-422
-
(1997)
J Pediatr
, vol.130
, pp. 417-422
-
-
Cormier-Daire, V.1
Chretien, D.2
Rustin, P.3
-
22
-
-
0026480006
-
Fatal infantile liver failure associated with mitochondrial DNA depletion
-
Mazziotta MRM, Ricci E, Bertini E, et al. Fatal infantile liver failure associated with mitochondrial DNA depletion. J Pediatr. 1992;121:896-901
-
(1992)
J Pediatr
, vol.121
, pp. 896-901
-
-
Mazziotta, M.R.M.1
Ricci, E.2
Bertini, E.3
-
23
-
-
0029869935
-
Depletion of mitochondrial DNA in a family with fatal neonatal liver disease
-
Bakker HD, Scholte HR, Dingemans KP, Spelbrink JN, Wijburg FA, Van den Bogert C. Depletion of mitochondrial DNA in a family with fatal neonatal liver disease. J Pediatr. 1996;128:683-687
-
(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
-
24
-
-
0029980584
-
Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia
-
Maaswinkel-Mooij PD, Van den Bogert C, Scholte HR, Onkenhout W, Brederoo P, Poorthuis BJ. Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia. J Pediatr. 1996;128:679-682
-
(1996)
J Pediatr
, vol.128
, pp. 679-682
-
-
Maaswinkel-Mooij, P.D.1
Van den Bogert, C.2
Scholte, H.R.3
Onkenhout, W.4
Brederoo, P.5
Poorthuis, B.J.6
-
25
-
-
12444288132
-
Neonatal liver failure and Leigh syndrome possibly due to CoQ-responsive OXPHOS deficiency
-
Leshinsky-Silver E, Levine A, Nissenkorn A, et al. Neonatal liver failure and Leigh syndrome possibly due to CoQ-responsive OXPHOS deficiency. Mol Genet Metab. 2003;79:288-293
-
(2003)
Mol Genet Metab
, vol.79
, pp. 288-293
-
-
Leshinsky-Silver, E.1
Levine, A.2
Nissenkorn, A.3
-
26
-
-
6044243733
-
Hepatocerebral mitochondrial DNA depletion syndrome: Clinical and morphologic features of a nuclear gene mutation
-
Rabinowitzs SS, Gelfond D, Chen CK, et al. Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation. J Pediatr Gastroenterol Nutr. 2004;38:216-220
-
(2004)
J Pediatr Gastroenterol Nutr
, vol.38
, pp. 216-220
-
-
Rabinowitzs, S.S.1
Gelfond, D.2
Chen, C.K.3
-
27
-
-
0037390960
-
Mutation analysis in 16 patients with mtDNA depletion
-
Carrozzo R, Bornstein B, Lucioli S, et al. Mutation analysis in 16 patients with mtDNA depletion. Hum Mutat. 2003;21:453-454
-
(2003)
Hum Mutat
, vol.21
, pp. 453-454
-
-
Carrozzo, R.1
Bornstein, B.2
Lucioli, S.3
-
28
-
-
0036019510
-
Depletion of the other genome-mitochondrial DNA depletion syndromes in humans
-
Elpeleg O, Mandel H, Saada A. Depletion of the other genome-mitochondrial DNA depletion syndromes in humans. J Mol Med. 2002;80:389-396
-
(2002)
J Mol Med
, vol.80
, pp. 389-396
-
-
Elpeleg, O.1
Mandel, H.2
Saada, A.3
-
29
-
-
0025678446
-
Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissues of children with mitochondrial myopathies
-
Korenge G, Bentlage H, Ruitenbeek W, et al. Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissues of children with mitochondrial myopathies. Eur J Pediatr. 1990;150:104-108
-
(1990)
Eur J Pediatr
, vol.150
, pp. 104-108
-
-
Korenge, G.1
Bentlage, H.2
Ruitenbeek, W.3
-
30
-
-
0033967568
-
Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects
-
Loeffen JL, Smeitink JA, Trijbels JM, et al. Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. Hum Mutat. 2000;15:123-134
-
(2000)
Hum Mutat
, vol.15
, pp. 123-134
-
-
Loeffen, J.L.1
Smeitink, J.A.2
Trijbels, J.M.3
-
31
-
-
0032893995
-
Respiratory chain complex I deficiency: An underdiagnosed energy generation disorder
-
Kirby DM, Crawford M, Cleary MA, Dahl HH, Dennett X, Thorburn DR. Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder. Neurology. 1999;52:1255-1264
-
(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
-
32
-
-
0020502138
-
Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency
-
DiMauro S, Nicholson J, Hays A, et al. Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency. Ann Neurol. 1983;14:226-234
-
(1983)
Ann Neurol
, vol.14
, pp. 226-234
-
-
DiMauro, S.1
Nicholson, J.2
Hays, A.3
-
33
-
-
0023084648
-
Benign reversible muscle cytochrome c oxidase deficiency: A second case
-
Zeviani M, Koga Y, Shikura K, et al. Benign reversible muscle cytochrome c oxidase deficiency: a second case. Neurology. 1987;37:64-67
-
(1987)
Neurology
, vol.37
, pp. 64-67
-
-
Zeviani, M.1
Koga, Y.2
Shikura, K.3
-
34
-
-
0011735752
-
Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency: A third case
-
Servedei S, Bertini E, Dionisi-Vici C. Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency: a third case. Clin Neuropathol. 1988;7:209-210
-
(1988)
Clin Neuropathol
, vol.7
, pp. 209-210
-
-
Servedei, S.1
Bertini, E.2
Dionisi-Vici, C.3
-
35
-
-
0034323863
-
Benign congenital myopathy associated with a partial deficiency of complexes I and III of the mitochondrial respiratory chain [in Spanish]
-
Castro-Gago M, Eirís J, Pintos E, et al. Benign congenital myopathy associated with a partial deficiency of complexes I and III of the mitochondrial respiratory chain [in Spanish]. Rev Neurol. 2000;31:838-841
-
(2000)
Rev Neurol
, vol.31
, pp. 838-841
-
-
Castro-Gago, M.1
Eirís, J.2
Pintos, E.3
-
36
-
-
0030249589
-
Mitochondrial myopathy simulating spinal muscular atrophy
-
Pons R, Andreetta F, Wang CH, et al. Mitochondrial myopathy simulating spinal muscular atrophy. Pediatr Neurol. 1996;15:153-158
-
(1996)
Pediatr Neurol
, vol.15
, pp. 153-158
-
-
Pons, R.1
Andreetta, F.2
Wang, C.H.3
-
37
-
-
0026690925
-
Reversible mitochondrial myopathy with cytochrome c oxidase deficiency
-
Salo MK, Rapola J, Somer H, et al. Reversible mitochondrial myopathy with cytochrome c oxidase deficiency. Arch Dis Child. 1992;67:1033-1035
-
(1992)
Arch Dis Child
, vol.67
, pp. 1033-1035
-
-
Salo, M.K.1
Rapola, J.2
Somer, H.3
-
38
-
-
0036257933
-
Progressive reversion of clinical and molecular phenotype in a child with liver mitochondrial DNA depletion
-
Ducluzeau PH, Lachaux A, Bouvier R, et al. Progressive reversion of clinical and molecular phenotype in a child with liver mitochondrial DNA depletion. J Hepatol. 2002;36:698-703
-
(2002)
J Hepatol
, vol.36
, pp. 698-703
-
-
Ducluzeau, P.H.1
Lachaux, A.2
Bouvier, R.3
-
39
-
-
0036746685
-
Reversible fulminant lactic acidosis and liver failure in an infant with hepatic cytochrome-c oxidase deficiency
-
Lev D, Gilad E, Leshinsky-Silver E, et al. Reversible fulminant lactic acidosis and liver failure in an infant with hepatic cytochrome-c oxidase deficiency. J Inherit Metab Dis. 2002;25:371-377
-
(2002)
J Inherit Metab Dis
, vol.25
, pp. 371-377
-
-
Lev, D.1
Gilad, E.2
Leshinsky-Silver, E.3
|