Pediatric Mitochondrial Respiratory Chain Disorders in the Centro Region of Portugal

Walker, 1996, Respiratory chain encephalomyopathies: a diagnostic classification, Eur Neurol, 36, 260, 10.1159/000117269 Bernier, 2002, Diagnostic criteria for respiratory chain disorders in adults and children, Neurology, 59, 1406, 10.1212/01.WNL.0000033795.17156.00 Naviaux, 2004, Developing a systematic approach to the diagnosis and classification of mitochondrial disease, Mitochondrion, 4, 351, 10.1016/j.mito.2004.07.002 Schaefer, 2004, The epidemiology of mitochondrial disorders: past, present and future, Biochim Biophys Acta, 1659, 115, 10.1016/j.bbabio.2004.09.005 Wolf, 2002, Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children, Neurology, 59, 1402, 10.1212/01.WNL.0000031795.91814.D8 National Institute of Statistics, 2002 Grazina, 2007, Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation: a case report, Eur J Paediatr Neurol, 11, 115, 10.1016/j.ejpn.2006.11.015 Rustin, 1994, Biochemical and molecular investigations in respiratory chain deficiencies, Clin Chim Acta, 228, 35, 10.1016/0009-8981(94)90055-8 Einstein, 1999 Osório RV. Results and Conclusions. National Program for Early Diagnosis: Report of activities 1989:38, 1990:39, 1991:45, 1992:23, 1993:61, 1994:53, 1995:49, 1996:50 [In Portuguese]. Porto, Portugal: Institute of Medical Genetics “Jacinto de Magalhães.” National Institute of Statistics, 2007 Thorburn, 2004, Mitochondrial disorders: prevalence, myths and advances, J Inherit Metab Dis, 27, 349, 10.1023/B:BOLI.0000031098.41409.55 Castro-Gago, 2006, Epidemiology of pediatric mitochondrial respiratory chain disorders in northwest Spain, Pediatr Neurol, 34, 204, 10.1016/j.pediatrneurol.2005.07.011 Debray, 2007, Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases, Pediatrics, 119, 722, 10.1542/peds.2006-1866 Miles, 2006, Investigation of children for mitochondriopathy confirms need for strict patient selection, improved morphological criteria, and better laboratory methods, Hum Pathol, 37, 173, 10.1016/j.humpath.2005.10.008 Sciacco, 2001, Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation, J Neurol, 248, 778, 10.1007/s004150170094 Uusimaa, 2000, Childhood encephalopathies and myopathies: a prospective study in a defined population to assess the frequency of mitochondrial disorders, Pediatrics, 105, 598, 10.1542/peds.105.3.598 Darin, 2001, The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities, Ann Neurol, 49, 377, 10.1002/ana.75 Munnich, 1996, Clinical presentation of mitochondrial disorders in childhood, J Inherit Metab Dis, 19, 521, 10.1007/BF01799112 Scaglia, 2004, Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease, Pediatrics, 114, 925, 10.1542/peds.2004-0718 Uusimaa, 2004, Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes, Pediatrics, 114, 443, 10.1542/peds.114.2.443 Hui, 2006, Decreased activities of mitochondrial respiratory chain complexes in non-mitochondrial respiratory chain diseases, Dev Med Child Neurol, 48, 132, 10.1017/S0012162206000284 Geromel, 1997, The consequences of a mild respiratory chain deficiency on substrate competitive oxidation in human mitochondria, Biochem Biophys Res Commun, 236, 643, 10.1006/bbrc.1997.7024 Oskoui, 2006, Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene, Arch Neurol, 63, 1122, 10.1001/archneur.63.8.1122 Patterson, 2004, Mitochondrial muscle pathology, Pediatr Dev Pathol, 7, 629, 10.1007/s10024-004-5051-4 Oliveira, 2005, Mitochondrial dysfunction in autism spectrum disorders: a population-based study, Dev Med Child Neurol, 47, 185, 10.1017/S0012162205000332