-
1
-
-
0037069229
-
Diagnostic criteria for respiratory chain disorders in adults and children
-
Bernier FP, Boneh A, Dennett X, Chow CW, Cleary MA, Thorburn DR. (2002) Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 59: 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
-
2
-
-
0034085995
-
Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Possible diagnostic pitfalls
-
Das AM, Fingerhut R, Wanders RJ, Ullrich K. (2000) Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Possible diagnostic pitfalls. Eur J Pediatr 159: 243-246.
-
(2000)
Eur J Pediatr
, vol.159
, pp. 243-246
-
-
Das, A.M.1
Fingerhut, R.2
Wanders, R.J.3
Ullrich, K.4
-
3
-
-
0025819334
-
Oxidation of molybdopterin in sulfite oxidase by ferricyanide. Effect on electron transfer activities
-
Gardlik S, Rajagopalan KV. (1991) Oxidation of molybdopterin in sulfite oxidase by ferricyanide. Effect on electron transfer activities. J Biol Chem 266: 4889-4895.
-
(1991)
J Biol Chem
, vol.266
, pp. 4889-4895
-
-
Gardlik, S.1
Rajagopalan, K.V.2
-
4
-
-
0034780619
-
Lactic acid elevation in extramitochondrial childhood neurodegenerative diseases
-
Kang PB, Hunter JV, Kaye EM. (2001) Lactic acid elevation in extramitochondrial childhood neurodegenerative diseases. J Child Neurol 16: 657-660.
-
(2001)
J Child Neurol
, vol.16
, pp. 657-660
-
-
Kang, P.B.1
Hunter, J.V.2
Kaye, E.M.3
-
5
-
-
0032893995
-
Respiratory chain complex I deficiency: An underdiagnosed energy generation disorder
-
Kirby DM, Crawford M, Cleary MA, Dahl HH, Dennett X, Thorburn DR. (1999) Respiratory chain complex I deficiency: An underdiagnosed energy generation disorder. Neurology 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
-
6
-
-
0024801512
-
Copper deficiency in the mitochondria of cultured skin fibroblasts from patients with Menkes syndrome
-
Kodama H, Okabe I, Yanagisawa M, Kodama Y. (1989) Copper deficiency in the mitochondria of cultured skin fibroblasts from patients with Menkes syndrome. J Inherit Metab Dis 12: 386-389.
-
(1989)
J Inherit Metab Dis
, vol.12
, pp. 386-389
-
-
Kodama, H.1
Okabe, I.2
Yanagisawa, M.3
Kodama, Y.4
-
7
-
-
0028802428
-
Diagnosis of fatal infantile defects of the mitochondrial respiratory chain: Age dependence and postmortem analysis of enzyme activities
-
Majander A, Rapola J, Sariola H, Suomalainen A, Pohjavuori M, Pihko H. (1995) Diagnosis of fatal infantile defects of the mitochondrial respiratory chain: Age dependence and postmortem analysis of enzyme activities. J Neurol Sci 134: 95-102.
-
(1995)
J Neurol Sci
, vol.134
, pp. 95-102
-
-
Majander, A.1
Rapola, J.2
Sariola, H.3
Suomalainen, A.4
Pohjavuori, M.5
Pihko, H.6
-
8
-
-
0034951326
-
Clinical spectrum and diagnosis of mitochondrial disorders
-
Munnich A, Rustin P. (2001) Clinical spectrum and diagnosis of mitochondrial disorders. Am J Med Genet 106: 4-17.
-
(2001)
Am J Med Genet
, vol.106
, pp. 4-17
-
-
Munnich, A.1
Rustin, P.2
-
9
-
-
13044251812
-
Menkes disease: Study of the mitochondrial respiratory chain in three cases
-
Pedespan JM, Jouaville LS, Cances C, Letellier T, Malgat M, Guiraud P, Coquet M, Vernhet I, Lacombe D, Mazat JP. (1999) Menkes disease: Study of the mitochondrial respiratory chain in three cases. Eur J Paediatr Neurol 3: 167-170.
-
(1999)
Eur J Paediatr Neurol
, vol.3
, pp. 167-170
-
-
Pedespan, J.M.1
Jouaville, L.S.2
Cances, C.3
Letellier, T.4
Malgat, M.5
Guiraud, P.6
Coquet, M.7
Vernhet, I.8
Lacombe, D.9
Mazat, J.P.10
-
10
-
-
0035005817
-
The dorsal root ganglia in adrenomyeloneuropathy: Neuronal atrophy and abnormal mitochondria
-
Powers JM, DeCiero DP, Cox C, Richfield EK, Ito M, Moser AB, Moser HW. (2001) The dorsal root ganglia in adrenomyeloneuropathy: Neuronal atrophy and abnormal mitochondria. J Neuropathol Exp Neurol 60: 493-501.
-
(2001)
J Neuropathol Exp Neurol
, vol.60
, pp. 493-501
-
-
Powers, J.M.1
DeCiero, D.P.2
Cox, C.3
Richfield, E.K.4
Ito, M.5
Moser, A.B.6
Moser, H.W.7
-
11
-
-
12644251085
-
Isolated sulfite oxidase deficiency
-
Rupar CA, Gillett J, Gordon BA, Ramsay DA, Johnson JL, Garrett RM, Rajagopalan KV, Jung JH, Bacheyie GS, Sellers AR. (1996) Isolated sulfite oxidase deficiency. Neuropediatrics 27: 299-304.
-
(1996)
Neuropediatrics
, vol.27
, pp. 299-304
-
-
Rupar, C.A.1
Gillett, J.2
Gordon, B.A.3
Ramsay, D.A.4
Johnson, J.L.5
Garrett, R.M.6
Rajagopalan, K.V.7
Jung, J.H.8
Bacheyie, G.S.9
Sellers, A.R.10
-
12
-
-
0035121867
-
A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13
-
Seyda A, Newbold RF, Hudson TJ, Verner A, MacKay N, Winter S, Feigenbaum A, Malaney S, Gonzalez-Halphen D, Cuthbert AP, Robinson BH. (2001) A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13. Am J Hum Genet 68: 386-396.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 386-396
-
-
Seyda, A.1
Newbold, R.F.2
Hudson, T.J.3
Verner, A.4
MacKay, N.5
Winter, S.6
Feigenbaum, A.7
Malaney, S.8
Gonzalez-Halphen, D.9
Cuthbert, A.P.10
Robinson, B.H.11
-
13
-
-
0026548643
-
Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathies
-
Sperl W, Ruitenbeek W, Sengers RC, Trijbels JM, Bentlage H, Wraith JE, Heilmann C, Stockler S, Binder C, Korenke GC, Hanefeld F. (1992) Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathies. Eur J Pediatr 151: 192-195.
-
(1992)
Eur J Pediatr
, vol.151
, pp. 192-195
-
-
Sperl, W.1
Ruitenbeek, W.2
Sengers, R.C.3
Trijbels, J.M.4
Bentlage, H.5
Wraith, J.E.6
Heilmann, C.7
Stockler, S.8
Binder, C.9
Korenke, G.C.10
Hanefeld, F.11
-
14
-
-
9644265636
-
Respiratory chain enzyme analysis in muscle and liver
-
Thorburn DR, Chow CW, Kirby DM. (2004) Respiratory chain enzyme analysis in muscle and liver. Mitochondrion 4: 363-375.
-
(2004)
Mitochondrion
, vol.4
, pp. 363-375
-
-
Thorburn, D.R.1
Chow, C.W.2
Kirby, D.M.3
-
15
-
-
0035024320
-
Diagnosis of mitochondrial disorders: Clinical and biochemical approach
-
Thorburn DR, Smeitink J. (2001) Diagnosis of mitochondrial disorders: clinical and biochemical approach. J Inherit Metab Dis 24: 312-316.
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 312-316
-
-
Thorburn, D.R.1
Smeitink, J.2
-
16
-
-
0033803952
-
Synergistic heterozygosity: Disease resulting from multiple partial defects in one or more metabolic pathways
-
Vockley J, Rinaldo P, Bennett MJ, Matern D, Vladutiu GD. (2000) Synergistic heterozygosity: Disease resulting from multiple partial defects in one or more metabolic pathways. Mol Genet Metab 71: 10-18.
-
(2000)
Mol Genet Metab
, vol.71
, pp. 10-18
-
-
Vockley, J.1
Rinaldo, P.2
Bennett, M.J.3
Matern, D.4
Vladutiu, G.D.5
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