نتایج جستجو برای: leigh disease
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leigh syndrome is a severe progressive neurodegenerative disorder with different clinical presentationsthat usually becomes apparent in the first year of life and rarely in late childhood and elderly years. it is causedby failure of mitochondrial respiratory chain and often results in regression of both mental and motor skills and might even lead to death. in some of the inherited neurodegenera...
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BACKGROUND Genetically defined Leigh syndrome is a rare, fatal inherited neurodegenerative disorder that predominantly affects children. No treatment is available. EPI-743 is a novel small molecule developed for the treatment of Leigh syndrome and other inherited mitochondrial diseases. In compassionate use cases and in an FDA Expanded Access protocol, children with Leigh syndrome treated with ...
Mitochondrial disorders are among the most severe metabolic disorders wherein patients suffer from multisystemic phenotypes, often resulting in early death. Clinical, biochemical, and genetic heterogeneity among individuals, together with poor understanding of gene-tophenotype relationships, pose significant diagnostic and therapeutic challenges for clinicians. In light of recent advances in ne...
BACKGROUND Leigh syndrome is a progressive neurodegenerative disorder, associated with primary or secondary dysfunction of the mitochondrial oxidative phosphorylation. Despite the fact that Leigh syndrome is the most common phenotype of mitochondrial disorders in children, longitudinal natural history data is missing. This study was undertaken to assess the phenotypic and genotypic spectrum of ...
Moyamoya disease is a cerebrovasculopathy of unknown etiology during the course of which the main and terminal veins of the internal carotid artery undergo progressive vein occlusion. Leigh syndrome is a mitochondrial encephalomyopathy that occurs due to "cytochrome c oxidase deficiency" characterized by psychomotor retardation, difficulty in eating, seizures, hypotonia, respiratory disorders a...
BACKGROUND The NDUFS4 gene encodes an 18-kD subunit of mitochondria complex I, and mutations in this gene lead to the development of a severe neurodegenerative disease called Leigh syndrome (LS) in humans. To investigate the disease phenotypes and molecular mechanisms of Leigh syndrome, the Ndufs4 knockout (KO) mouse has been widely used as a novel animal model. Because the homozygotes cannot s...
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...
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