-
1
-
-
0027246118
-
A fatal, systemic mitochondrial disease with decreased mitochondrial enzyme activities, abnormal ultrastructure of the mitochondria and deficiency of heat shock protein-60
-
Agsteribbe E, Huckriede A, Veenhuis M, Ruiters MHJ, Niezen-Koning KE, Skjeldal OH et al. A fatal, systemic mitochondrial disease with decreased mitochondrial enzyme activities, abnormal ultrastructure of the mitochondria and deficiency of heat shock protein-60. Biochem Biophys Res Commun 1993; 193: 146-154
-
(1993)
Biochem Biophys Res Commun
, vol.193
, pp. 146-154
-
-
Agsteribbe, E.1
Huckriede, A.2
Veenhuis, M.3
Ruiters, M.H.J.4
Niezen-Koning, K.E.5
Skjeldal, O.H.6
-
4
-
-
0030015691
-
Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts, but with combined complex I and IV deficiencies in muscle
-
Bentlage HACM, Wendel U, Schägger H, Laak HJ ter, Janssen AJM, Trijbels JMF. Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts, but with combined complex I and IV deficiencies in muscle. Neurology 1996; 47: 243-248
-
(1996)
Neurology
, vol.47
, pp. 243-248
-
-
Bentlage, H.A.C.M.1
Wendel, U.2
Schägger, H.3
Ter Laak, H.J.4
Janssen, A.J.M.5
Trijbels, J.M.F.6
-
5
-
-
0026654524
-
Pyruvate dehydrogenase E1α deficiency
-
Brown GK. Pyruvate dehydrogenase E1α deficiency. J Inher Metab Dis 1992; 15: 625-633
-
(1992)
J Inher Metab Dis
, vol.15
, pp. 625-633
-
-
Brown, G.K.1
-
6
-
-
0029763179
-
Neuropathology and pathogenesis of mitochondrial diseases
-
Brown GK, Squier MV. Neuropathology and pathogenesis of mitochondrial diseases. J Inher Metab Dis 1996; 19: 553-572
-
(1996)
J Inher Metab Dis
, vol.19
, pp. 553-572
-
-
Brown, G.K.1
Squier, M.V.2
-
8
-
-
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
-
9
-
-
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
-
10
-
-
0022454718
-
Estimation of NADH oxidation in human skeletal muscle mitochondria
-
Fischer JC, Ruitenbeek W, Trijbels JM, Veerkamp JH, Stadhouders AM, Sengers RC et al. Estimation of NADH oxidation in human skeletal muscle mitochondria. Clin Chim Acta 1986; 155: 263-273
-
(1986)
Clin Chim Acta
, vol.155
, pp. 263-273
-
-
Fischer, J.C.1
Ruitenbeek, W.2
Trijbels, J.M.3
Veerkamp, J.H.4
Stadhouders, A.M.5
Sengers, R.C.6
-
11
-
-
0036837666
-
Amish lethal microcephaly: A new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria
-
Kelley RI, Robinson D, Puffenberger EG, Strauss KA, Morton DH. Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. Am J Med Genet 2002; 112: 318-326
-
(2002)
Am J Med Genet
, vol.112
, pp. 318-326
-
-
Kelley, R.I.1
Robinson, D.2
Puffenberger, E.G.3
Strauss, K.A.4
Morton, D.H.5
-
12
-
-
0034056402
-
Fumaric aciduria: Clinical and imaging features
-
Kerrigan JF, Aleck KA, Tarby TJ, Bird CR, Heidenreich RA. Fumaric aciduria: Clinical and imaging features. Ann Neurol 2000; 47: 583-588
-
(2000)
Ann Neurol
, vol.47
, pp. 583-588
-
-
Kerrigan, J.F.1
Aleck, K.A.2
Tarby, T.J.3
Bird, C.R.4
Heidenreich, R.A.5
-
13
-
-
0032957499
-
D-2-hydroxyglutaric aciduria: Biochemical marker or clinical disease entity?
-
Knaap MS van der, Jakobs C, Hoffmann GF, Nyhan WL, Renier WO, Smeitink JA et al. D-2-hydroxyglutaric aciduria: Biochemical marker or clinical disease entity? Ann Neurol 1999; 45: 111-119
-
(1999)
Ann Neurol
, vol.45
, pp. 111-119
-
-
Van Der Knaap, M.S.1
Jakobs, C.2
Hoffmann, G.F.3
Nyhan, W.L.4
Renier, W.O.5
Smeitink, J.A.6
-
14
-
-
0041331636
-
Antenatal manifestations of mitochondrial respiratory chain deficiency
-
Kleist-Retzow JC von, Cormier-Daire V, Viot G, Goldenberg A, Mardach B, Amiel J et al. Antenatal manifestations of mitochondrial respiratory chain deficiency. J Pediatr 2003; 143: 208-212
-
(2003)
J Pediatr
, vol.143
, pp. 208-212
-
-
Von Kleist-Retzow, J.C.1
Cormier-Daire, V.2
Viot, G.3
Goldenberg, A.4
Mardach, B.5
Amiel, J.6
-
15
-
-
0033033425
-
Pontocerebellar hypoplasia associated with respiratory-chain defects
-
Koning TJ de, Vries LS de, Groenendaal F, Ruitenbeek W, Jansen GH, Poll-The BT et al. Pontocerebellar hypoplasia associated with respiratory-chain defects. Neuropediatrics 1999; 30: 93-95
-
(1999)
Neuropediatrics
, vol.30
, pp. 93-95
-
-
De Koning, T.J.1
De Vries, L.S.2
Groenendaal, F.3
Ruitenbeek, W.4
Jansen, G.H.5
Poll-The, B.T.6
-
16
-
-
0025678446
-
Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathies
-
Korenke GC, Bentlage HACM, Ruitenbeek W, Sengers RCA, Sperl W, Trijbels JMF et al. Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathies. Eur J Pediatr 1990; 150: 104-108
-
(1990)
Eur J Pediatr
, vol.150
, pp. 104-108
-
-
Korenke, G.C.1
Bentlage, H.A.C.M.2
Ruitenbeek, W.3
Sengers, R.C.A.4
Sperl, W.5
Trijbels, J.M.F.6
-
17
-
-
0029781669
-
Cerebellar hypoplasia in respiratory chain dysfunction
-
Lincke CR, Bogert C van den, Nijtmans LG, Wanders RJ, Tamminga P, Barth PG. Cerebellar hypoplasia in respiratory chain dysfunction. Neuropediatrics 1996; 27: 216-218
-
(1996)
Neuropediatrics
, vol.27
, pp. 216-218
-
-
Lincke, C.R.1
Van Den Bogert, C.2
Nijtmans, L.G.3
Wanders, R.J.4
Tamminga, P.5
Barth, P.G.6
-
18
-
-
0343550525
-
Mitochondrial diseases in children: Neuroradiological and clinical features in 17 patients
-
Munoz A, Mateos F, Simon R, Garcia-Silva MT, Cabello S, Arenas J. Mitochondrial diseases in children: neuroradiological and clinical features in 17 patients. Neuroradiology 1999; 41: 920-928
-
(1999)
Neuroradiology
, vol.41
, pp. 920-928
-
-
Munoz, A.1
Mateos, F.2
Simon, R.3
Garcia-Silva, M.T.4
Cabello, S.5
Arenas, J.6
-
19
-
-
0027216152
-
Subependymal pseudocysts: Ultrasound diagnosis and findings at follow-up
-
Rademaker KJ, Vries LS de, Barth PG. Subependymal pseudocysts: ultrasound diagnosis and findings at follow-up. Acta Paediatr 1993; 82; 394-399
-
(1993)
Acta Paediatr
, vol.82
, pp. 394-399
-
-
Rademaker, K.J.1
De Vries, L.S.2
Barth, P.G.3
-
20
-
-
0026574359
-
Fatal combined defects in mitochondrial multienzyme complexes in two siblings
-
Robinson BH, Chow W, Petrova-Benedict R, Clarke JTR, Allen MI van, Becker LE et al. Fatal combined defects in mitochondrial multienzyme complexes in two siblings. EurJ Pediatr 1992; 151: 347-352
-
(1992)
EurJ Pediatr
, vol.151
, pp. 347-352
-
-
Robinson, B.H.1
Chow, W.2
Petrova-Benedict, R.3
Clarke, J.T.R.4
Van Allen, M.I.5
Becker, L.E.6
-
21
-
-
18544382852
-
Mutant deoxynucleotide carrier is associated with congenital microcephaly
-
Rosenberg MJ, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard MS et al. Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat Genet 2002; 32: 175-179
-
(2002)
Nat Genet
, vol.32
, pp. 175-179
-
-
Rosenberg, M.J.1
Agarwala, R.2
Bouffard, G.3
Davis, J.4
Fiermonte, G.5
Hilliard, M.S.6
-
22
-
-
0028286775
-
Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcifications
-
Samsom JF, Barth PG, Vries JIP de, Menko FH, Ruitenbeek W, Oost BA van et al. Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcifications. Eur J Pediatr 1994; 153: 510-516
-
(1994)
Eur J Pediatr
, vol.153
, pp. 510-516
-
-
Samsom, J.F.1
Barth, P.G.2
De Vries, J.I.P.3
Menko, F.H.4
Ruitenbeek, W.5
Van Oost, B.A.6
-
23
-
-
0028887910
-
Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene
-
Shoffner JM, Bialer MG, Pavlakis SG, Lott M, Kaufman A, Dixon J et al. Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene. Neurology 1995; 45: 286-292
-
(1995)
Neurology
, vol.45
, pp. 286-292
-
-
Shoffner, J.M.1
Bialer, M.G.2
Pavlakis, S.G.3
Lott, M.4
Kaufman, A.5
Dixon, J.6
-
24
-
-
0026458339
-
Enzyme activities of the mitochondrial energy generating system in skeletal muscle tissue of preterm and fullterm neonates
-
Sperl W, Sengers RC, Trijbels JM, Veerkamp JH, Stadhouders AM, Sengers RC et al. Enzyme activities of the mitochondrial energy generating system in skeletal muscle tissue of preterm and fullterm neonates. Ann Clin Biochem 1992; 29: 638-645
-
(1992)
Ann Clin Biochem
, vol.29
, pp. 638-645
-
-
Sperl, W.1
Sengers, R.C.2
Trijbels, J.M.3
Veerkamp, J.H.4
Stadhouders, A.M.5
Sengers, R.C.6
-
25
-
-
0026548643
-
Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathies
-
Sperl W, Ruitenbeek W, Sengers RCA, Trijbels JMF, Bentlage H, Wraith JE et al. Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathies. Eur J Pediatr 1992; 151: 192-195
-
(1992)
Eur J Pediatr
, vol.151
, pp. 192-195
-
-
Sperl, W.1
Ruitenbeek, W.2
Sengers, R.C.A.3
Trijbels, J.M.F.4
Bentlage, H.5
Wraith, J.E.6
-
26
-
-
0033966736
-
MELAS with the mitochondrial DNA 3243 point mutation: A neuropathological study
-
Tanahashi C, Nakayama A, Yoshida M, Ito M, Mori N, Hashizume Y. MELAS with the mitochondrial DNA 3243 point mutation: a neuropathological study. Acta Neuropathol 2000; 99: 31-38
-
(2000)
Acta Neuropathol
, vol.99
, pp. 31-38
-
-
Tanahashi, C.1
Nakayama, A.2
Yoshida, M.3
Ito, M.4
Mori, N.5
Hashizume, Y.6
|