نتایج جستجو برای: leigh syndrome
تعداد نتایج: 623686 فیلتر نتایج به سال:
Respiratory chain complex I deficiency represents a genetically heterogeneous group of diseases resulting from mutations in mitochondrial or nuclear genes. Mutations have been reported in 13 of the 14 subunits encoding the core of complex I (seven mitochondrial and six nuclear genes) and these result in Leigh or Leigh-like syndromes or cardiomyopathy. In this study, a combination of denaturing ...
Leigh syndrome is typically a disorder of infancy and early childhood. Only a few patients with late onset Leigh syndrome have been reported [1]. The disorder is most likely underdiagnosed in adolescents and adults. In the past, many adults with Leigh syndrome were misdiagnosed with multiple sclerosis [2,3].Here, we describe a 17 year old girl with Leigh syndrome mimicking as central nervous sy...
during two years study about mitochondrial disease (sep 1999-agu 2001), 15 cases of leigh syndrome (ls) were diagnosed, that consisted of 11 boys and 4 girls aged between 6 to 156 (mean: 40.5) months. most of the patients (46.7%) became symptomatic between 1-5 years of age. triggering factors were reported in 66.6% of the patients and 40% of them became symptomatic after infections. the most fr...
Mitochondrial diseases are the most common inherited inborn error of metabolism resulting in deficient ATP generation, due to failure homeostasis and proper bioenergetics. The frequent mitochondrial disease manifestation children is Leigh syndrome (LS), encompassing clinical, neuroradiological, biochemical, molecular features. It typically affects infants but occurs anytime life. Considering re...
BACKGROUND Leigh syndrome is an early onset, progressive, neurodegenerative disorder with developmental and motor skills regression. Characteristic magnetic resonance imaging abnormalities consist of focal bilateral lesions in the basal ganglia and/or the brainstem. The main cause is a deficiency in oxidative phosphorylation due to mutations in an mtDNA or nuclear oxidative phosphorylation gene...
A recent research demonstrates that the inhibition of mammalian target of rapamycin (mTOR) improves survival and health for patients with Leigh syndrome. mTOR proteins can be treated as drug target proteins against Leigh syndrome and other mitochondrial disorders. In this study, we aim to identify potent TCM compounds from the TCM Database@Taiwan as lead compounds of mTOR inhibitors. PONDR-Fit ...
With interest we read the article by Chuquilin et al. about a 20yo femalewith Leigh syndromedue to them.9176T N Cmutation in the ATP6 gene who responded favourably to plasmapheresis and immunoglobulins [1]. We have the following comments and concerns. Themain ambiguity of this report is thediagnosis. Except for the current case, Leigh syndrome has not been reported to respond to immunosuppressi...
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