Cytochrome c oxidase deficiency in subacute necrotizing encephalopathy (Leigh syndrome)
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01799214
Reference24 articles.
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3. Brown, G. K., Scholem, R. D., Bankier, A. and Danks, D. M. Malonyl coenzyme A decarboxylase deficiency.J. Inher. Metab. Dis. 7 (1984) 21–26
4. Brown, G. K., Haan, E. A., Kirby, D. M., Scholem, R. D., Wraith, J. E., Rogers, J. G. and Danks, D. M. ‘Cerebral’ lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis.Eur. J. Pediatr. 147 (1988) 10–14
5. Burnette, W. N. ‘Western blotting’: electrophoretic transfer of proteins from sodium dodecyl sulfate-polyacrylamide gels to unmodified nitrocellulose and radiographic detection with antibody and radioiodinated protein A.Anal. Biochem. 112 (1981) 195–203
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1. HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase;Orphanet Journal of Rare Diseases;2013-12
2. Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome;Journal of Medical Genetics;2004-07-01
3. Diagnostic difficulties with common SURF1 mutations in patients with cytochrome oxidase-deficient Leigh syndrome;Journal of Inherited Metabolic Disease;2004-03
4. Tracing the Neuroanatomical Profiles of Reward Pathways with Markers of Neuronal Activation;Reviews in the Neurosciences;2004-01
5. Cytochrome c Oxidase Partial Deficiency-Associated Leigh Disease Presenting as an Extrapyramidal Syndrome;Journal of Child Neurology;2001-08
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