Indexed keywords
CREATINE KINASE;
LACTIC ACID;
UBIDECARENONE;
DRUG DERIVATIVE;
REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);
UBIQUINOL CYTOCHROME C REDUCTASE;
UBIQUINONE;
ABNORMALLY HIGH SUBSTRATE CONCENTRATION IN BLOOD;
ADULT;
ARTICLE;
ATAXIA;
CASE REPORT;
CHILD;
COENZYME Q10 DEFICIENCY;
DRUG MEGADOSE;
ENZYME DEFICIENCY;
FEMALE;
HUMAN;
LIPID STORAGE;
MALE;
MUSCLE BIOPSY;
MUSCLE STRENGTH;
MUSCLE WEAKNESS;
MYOGLOBINURIA;
MYOPATHY;
PRIORITY JOURNAL;
RESPIRATORY CHAIN;
SEIZURE;
BLOOD;
DELIVERY;
DISEASE COURSE;
ENZYMOLOGY;
INBORN ERROR OF METABOLISM;
LIPID METABOLISM;
METABOLISM;
MUSCLE DISEASE;
PATHOLOGY;
PATHOPHYSIOLOGY;
PREGNANCY;
PREGNANCY COMPLICATION;
SKELETAL MUSCLE;
ADULT;
CREATINE KINASE;
DELIVERY, OBSTETRIC;
DISEASE PROGRESSION;
ELECTRON TRANSPORT COMPLEX I;
ELECTRON TRANSPORT COMPLEX III;
FEMALE;
HUMANS;
LACTIC ACID;
LIPID METABOLISM;
MALE;
METABOLISM, INBORN ERRORS;
MUSCLE WEAKNESS;
MUSCLE, SKELETAL;
MUSCULAR DISEASES;
PREGNANCY;
PREGNANCY COMPLICATIONS;
UBIQUINONE;
1
0141610413
Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy
USA
Ogasahara S, Engel AG, Frens D, Mack D. Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci USA 1989;86:2379-2382.
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Ogasahara, S.1
Engel, A.G.2
Frens, D.3
Mack, D.4
2
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Mitochondrial encephalomyopathy with coenzyme Q10 deficiency
Sobreira C, Hirano M, Shanske S, et al. Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. Neurology 1997;48:1238-1243.
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Neurology
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Sobreira, C.1
Hirano, M.2
Shanske, S.3
3
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Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency
Rotig A, Appelkvist EL, Geromel V, et al. Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency. Lancet 2000;356:391-395.
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Lancet
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Rotig, A.1
Appelkvist, E.L.2
Geromel, V.3
4
0037426430
Cerebellar ataxia and coenzyme Q10 deficiency
Lamperti C, Naini A, Hirano M, et al. Cerebellar ataxia and coenzyme Q10 deficiency. Neurology 2003;60:1206-1208.
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Neurology
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Lamperti, C.1
Naini, A.2
Hirano, M.3
5
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Coenzyme Q-responsive Leigh's encephalopathy in two sisters
Maldergem LV, Trijbels F, DiMauro S, et al. Coenzyme Q-responsive Leigh's encephalopathy in two sisters. Ann Neurol 2002;52:750-754.
(2002)
Ann Neurol
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Maldergem, L.V.1
Trijbels, F.2
DiMauro, S.3
6
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Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency
Lalani SR, Vladutiu GD, Plunkett K, Lotze TE, Adesina AM, Scaglia F. Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency. Arch Neurol 2005;62:317-320.
(2005)
Arch Neurol
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Lalani, S.R.1
Vladutiu, G.D.2
Plunkett, K.3
Lotze, T.E.4
Adesina, A.M.5
Scaglia, F.6
7
0022623425
A mitochondrial encephalomyopathy: The first case with an established defect at the level of coenzyme Q
Fischer JC, Ruitenbeek W, Gabreels FJ, et al. A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q. Eur J Pediatr 1986;144:441-444.
(1986)
Eur J Pediatr
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Fischer, J.C.1
Ruitenbeek, W.2
Gabreels, F.J.3
8
10744223145
Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency
Gironi M, Lamperti C, Nemni R, et al. Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency. Neurology 2004;62:818-820.
(2004)
Neurology
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Gironi, M.1
Lamperti, C.2
Nemni, R.3
9
0035859689
Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency
Di Giovanni S, Mirabella M, Spinazzola A, et al. Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency. Neurology 2001;57:515-518.
(2001)
Neurology
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, pp. 515-518
Di Giovanni, S.1
Mirabella, M.2
Spinazzola, A.3
10
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Progression despite replacement of a myopathic form of coenzyme Q10 defect
Aure K, Benoist JF, Ogier de Baulny H, Romero NB, Rigal O, Lombes A. Progression despite replacement of a myopathic form of coenzyme Q10 defect. Neurology 2004;63:727-729.
(2004)
Neurology
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Aure, K.1
Benoist, J.F.2
Ogier De Baulny, H.3
Romero, N.B.4
Rigal, O.5
Lombes, A.6