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Quoted phrase not found in phrase index: "Leigh syndrome due to mitochondrial complex V deficiency"
Page 1
The expanding clinical spectrum of mitochondrial diseases.
De Vivo DC. De Vivo DC. Brain Dev. 1993 Jan-Feb;15(1):1-22. doi: 10.1016/0387-7604(93)90002-p. Brain Dev. 1993. PMID: 8338207 Review.
This classification divides mitochondrial diseases into five categories. Primary and secondary deficiencies of carnitine are examples of a substrate transport defect. ...Two clinical syndromes predominate, one involving limb weakness, and the other primarily affecti …
This classification divides mitochondrial diseases into five categories. Primary and secondary deficiencies of carnitine are e …
Mitochondrial gene expression changes in normal and mitochondrial mutant cells after exposure to ionizing radiation.
Kulkarni R, Marples B, Balasubramaniam M, Thomas RA, Tucker JD. Kulkarni R, et al. Radiat Res. 2010 May;173(5):635-44. doi: 10.1667/RR1737.1. Radiat Res. 2010. PMID: 20426663
Leber's optic atrophy and Leigh's syndrome are diseases that are caused by point mutations in the mitochondrial genome and that have phenotypes associated with energy deprivation. ...This may be attributable to mitochondrial dysfunction from reductions …
Leber's optic atrophy and Leigh's syndrome are diseases that are caused by point mutations in the mitochondrial genome …
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.
Honzik T, Tesarova M, Magner M, Mayr J, Jesina P, Vesela K, Wenchich L, Szentivanyi K, Hansikova H, Sperl W, Zeman J. Honzik T, et al. J Inherit Metab Dis. 2012 Sep;35(5):749-59. doi: 10.1007/s10545-011-9440-3. Epub 2012 Jan 10. J Inherit Metab Dis. 2012. PMID: 22231385
Prematurity, intrauterine growth retardation and hypotonia necessitating ventilatory support were present in one-third, cardiomyopathy in 40%, neonatal seizures in 16%, Leigh syndrome in 15%, and elevated lactate level in 87%. Hyperammonemia was observed in 22 out o …
Prematurity, intrauterine growth retardation and hypotonia necessitating ventilatory support were present in one-third, cardiomyopathy in 40 …
Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations.
Morava E, Rodenburg RJ, Hol F, de Vries M, Janssen A, van den Heuvel L, Nijtmans L, Smeitink J. Morava E, et al. Am J Med Genet A. 2006 Apr 15;140(8):863-8. doi: 10.1002/ajmg.a.31194. Am J Med Genet A. 2006. PMID: 16532470
In 9 out of 11 patients a decreased ATP production was detected, and complex V activity was deficient in all children. The activities of the respiratory enzyme complexes II and IV were normal, whereas an associated combined complex I and III deficiency …
In 9 out of 11 patients a decreased ATP production was detected, and complex V activity was deficient in all children. …
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
Wortmann SB, Rodenburg RJ, Jonckheere A, de Vries MC, Huizing M, Heldt K, van den Heuvel LP, Wendel U, Kluijtmans LA, Engelke UF, Wevers RA, Smeitink JA, Morava E. Wortmann SB, et al. Brain. 2009 Jan;132(Pt 1):136-46. doi: 10.1093/brain/awn296. Epub 2008 Nov 16. Brain. 2009. PMID: 19015156
In the encephalomyopathic group with neurodegenerative symptoms and respiratory chain complex I deficiency, two of the children, presenting with mild Methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness, harboured SUCLA2 mutations. ...In the c …
In the encephalomyopathic group with neurodegenerative symptoms and respiratory chain complex I deficiency, two of the children, pres …