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Pediatric Neurology
Volume 42, Issue 3
, Pages 196-200
, March 2010
Value of Brain Magnetic Resonance Imaging in Mitochondrial Respiratory Chain Disorders
References
- . Developing a systematic approach to the diagnosis and classification of mitochondrial disease. Mitochondrion. 2004;4:351–361
- . Defects of the respiratory chain. In: Fernandes J, Saudubray JM, van der Berghe G, Walter JH editor. Inborn metabolic diseases diagnosis and treatment. 4th ed. Heidelberg: Springer Medizin Verlag; 2006;p. 197–210
- . Phenotype variability in 130 adult patients with respiratory chain disorders. J Inherit Metab Dis. 2001;24:560–576
- . Mitochondrial disorders: prevalence, myths and advances. J Inherit Metab Dis. 2004;27:349–362
- In: Lyon G, Kolodny EH, Pastores GM editor. Neurology of hereditary metabolic diseases of children. 3rd ed. New York: McGraw-Hill; 2006;p. 142–151
- . Brain magnetic resonance in the diagnostic evaluation of mitochondrial encephalopathies. Biosci Rep. 2007;27:69–85
- Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2343G point mutation: implications for pathogenesis. J Neurol Neurosurg Psychiatry. 1998;65:233–240
- . Leigh syndrome and mitochondrial leukoencephalopathies. In: van der Knaap MS, Valked J editor. Magnetic resonance of myelination and myelin disorders. 3rd ed. Berlin, Heidelberg, New York: Springer-Verlag; 2005;p. 224–244
- . Mitochondrial disorders: analysis of their clinical and imaging characteristics. AJNR Am J Neuroradiol. 1993;14:1119–1137
- . Proton MR spectroscopy in the diagnostic evaluation of suspected mitochondrial disease. AJNR Am J Neuroradiol. 2003;24:33–41
- Brain magnetic resonance imaging findings in patients with mitochondrial cytopathies. Arch Neurol. 2005;62:737–742
- . Leigh and Leigh-like syndrome in children and adults. Pediatr Neurol. 2008;39:223–235
- . Diagnostic criteria for respiratory chain disorders in adults and children. Neurology. 2002;59:1406–1411
- Pediatric mitochondrial respiratory chain disorders in the Centro region of Portugal. Pediatr Neurol. 2009;40:351–356
- . Respiratory chain encephalomyopathies: a diagnostic classification. Eur Neurol. 1996;36:260–267
- . Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children. Neurology. 2002;59:1402–1405
- . Mitochondrial diseases in children: neuroradiological and clinical features in 17 patients. Neuroradiology. 1999;41:920–928
- . Infantile leukoencephalopathy owing to mitochondrial enzyme dysfunction. J Child Neurol. 2002;17:421–428
- Brain MRI and proton MRS findings in infants and children with respiratory chain defects. Neuropediatrics. 2005;36:290–301
- . MR of the brain in mitochondrial myopathy. AJNR Am J Neuroradiol. 1995;16:1167–1173
- . Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects. AJNR Am J Neuroradiol. 2005;26:1675–1680
- . Cerebral white matter involvement in children with mitochondrial encephalopathies. Neuropediatrics. 2002;33:79–85
- A patient with bilateral lesion in the striatum and slowly progressive dystonia secondary to T14487C mutation in the ND6 gene of complex I of the mitochondrial respiratory chain. [In Spanish] Rev Neurol. 2004;39:1129–1132
- Neuroradiologic findings in children with mitochondrial disorder: correlation with mitochondrial respiratory chain defects. Eur Radiol. 2008;18:1741–1748
- . Neuroradiologic findings in children with mitochondrial disorders. AJNR Am J Neuroracliol. 1998;19:369–377
- . Statistical Package for the Social Sciences: SPSS 10.0. Applications guide. Chicago: SPSS; 1990;
- Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G > A point mutation: a case report. Eur J Paediatr Neurol. 2007;11:115–118
- Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation. J Neurol. 2001;248:778–788
- . Respiratory chain enzyme analysis in muscle and liver. Mitochondrion. 2004;4:363–375
- A prognostic index as diagnostic strategy in children suspected of mitochondriocytopathy. Neuropediatrics. 2000;31:114–121
- Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta. 1994;228:35–51
- Mitochondrial disease criteria: diagnostic applications in children. Neurology. 2006;67:1823–1826
PII: S0887-8994(09)00482-2
doi: 10.1016/j.pediatrneurol.2009.09.010
© 2010 Elsevier Inc. All rights reserved.
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Pediatric Neurology
Volume 42, Issue 3
, Pages 196-200
, March 2010
