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Cochlear Degeneration in Leigh Disease: Histopathologic Features
The Laryngoscope, 2004AbstractObjective: To describe pathologic findings from temporal bones acquired from an infant with Leigh disease.Study Design: Retrospective case review.Materials and Methods: Temporal bones were taken at autopsy from an 8‐month‐old infant with Leigh disease. The right temporal bone was studied by microdissection.
Seckin O, Ulualp +3 more
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Leigh's disease: a cause of arterial hypertension
Medical Journal of Australia, 1985An 11-year-old boy developed sudden and severe arterial hypertension. A post-mortem examination revealed bilateral symmetrical lesions in the medulla oblongata which were typical of Leigh's disease (subacute necrotizing encephalomyelopathy). Other cases of Leigh's disease with hypertension or left ventricular hypertrophy have shown similar brain stem ...
R, Pamphlett, C, Harper
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Low Citrulline in Leigh Disease: Still a Biomarker of Maternally Inherited Leigh Syndrome
Journal of Child Neurology, 2010Two siblings presented with encephalopathy, lactic acidosis, and hypocitrullinemia. Muscle and liver biopsies were considered for respiratory chain studies, but because of hypocitrullinemia, molecular analysis for maternally inherited Leigh syndrome was first performed, revealing in both siblings the mitochondrial DNA T8993G mutation (95% heteroplasmy)
Debray, François-Guillaume +3 more
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Leigh’s Disease (Subacute Necrotizing Encephalomyelopathy)
1994Leigh’s disease is a rare neurodegenerative disease caused by disorders of pyruvate metabolism. Most cases occur sporadically but autosomal recessive inheritance has been reported. Respiratory failure is the most important manifestation in patients requiring neurocritical care.
Matthias Spranger, Michael N. Diringer
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Leigh disease presenting as Guillain-Barré syndrome
Pediatric Neurology, 1993A 4-year-old male evidenced the criteria for the diagnosis of Guillain-Barré syndrome. Eventually a diagnosis of Leigh disease was made based on magnetic resonance imaging and mitochondrial enzyme deficiencies. Although chronic neuropathy has been reported with Leigh disease, this is the first reported patient with acute symmetric motor polyneuropathy.
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2014
The mitochondrial cytopathies in children are clinically and genetically heterogeneous group of disorders leading to involvement of nervous system and other organ systems. Subacute necrotizing encephalomyelopathy, called Leigh Disease is a type of these disorders.
SEREN, Lale Pulat +3 more
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The mitochondrial cytopathies in children are clinically and genetically heterogeneous group of disorders leading to involvement of nervous system and other organ systems. Subacute necrotizing encephalomyelopathy, called Leigh Disease is a type of these disorders.
SEREN, Lale Pulat +3 more
openaire +1 more source