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Oxidative phosphorylation diseases
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Scriver CR, Beaudet AL, Sly WS, Valle D, editors. New York: Mcgraw-Hill
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Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport: Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalomyopathy
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2. Hoppel CL, Kerr DS, Dahms B, Rossmann U. Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport: fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalomyopathy. J Clin Invest 1987;80:71-7.
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Hoppel, C.L.1
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Rossmann, U.4
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Secondary 3-hydroxydicarbox-ylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
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3. Bennett MJ, Weinberger MJ, Sherwood WG, Burlina AB. Secondary 3-hydroxydicarbox-ylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J Inher Metab Dis 1994;17:283-6.
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Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: Clinical presentation of thirteen patients
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5. Tyni T, Palotie A, Viinikka L, Valanne L, Salo M, von Dobeln U, et al. Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients. J Pediatr 1997;130:67-76.
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Urinary 3-hydroxydicarboxylic acids in pathophysiology of metabolic disorders with dicarboxylic aciduria
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Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: Possible metabolic markers for the primary defect
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7. Bennett MJ, Sherwood WG, Gibson KM, Burlina AB. Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: possible metabolic markers for the primary defect. J Inher Metab Dis 1993;16:560-2.
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Neonatal lethal mitochondnal trifunctional protein deficiency mimicking a respiratory chain defect
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Muscle cytochrome c oxidase deficiency accompanied by urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency
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9. Christensen E, Brendt NJ, Schmalbruch H, Kamieniecka Z, Hertz B, Ruitenbeek W. Muscle cytochrome c oxidase deficiency accompanied by urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency. J Inher Metab Dis 1993; 16:553-6.
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A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts
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Defects in oxidative phosphorylation. Biochemical investigations in skeletal muscle and expression of the lesion in other cells
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11. Scholte HR, Busch HFM, Luyt-Houwen IEM, Vaandragen-Verduin MHM, Przyrembel H, Arts WFM. Defects in oxidative phosphorylation. Biochemical investigations in skeletal muscle and expression of the lesion in other cells. J Inher Metab Dis 1987; 10(suppl 1):81-97.
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Mitochondropathy presenting with non-ketotic hypoglycemia as 3-hydroxydicarboxylic aciduria
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