نتایج جستجو برای: mitochondrial encephalomyopathy
تعداد نتایج: 132426 فیلتر نتایج به سال:
OBJECTIVE There is a paucity of objective, quantifiable indicators of mitochondrial disease available for clinical and scientific investigation. METHODS To this end, we explore intramyocellular lipid (IMCL) accumulation noninvasively by 7T magnetic resonance spectroscopy (MRS) as a reporter of metabolic dysfunction in MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like ep...
We report a case with 46-year-old man diagnosed with mitochondrial cardiomyopathy in the dilated phase of hypertrophic cardiomyopathy. Since cardiac magnetic resonance imaging, beta-methyl-p-123I-iodophenyl-pentadecanoic myocardial scintigraphy, and positron emission tomography/computed tomography revealed no remarkable findings, we performed electron microscopic examination, which aided in dia...
The mitochondrial DNA mutation MTTL1 A3243G causes MELAS syndrome (Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-like episodes). The A3243G mutation is also associated with variable endocrinopathies. We describe 2 case histories of patients with the A3243G mutation. The first patient presented with diabetes and uncontrolled Graves’ thyrotoxicosis in association with a strokelike epis...
Abstract Objective: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare syndrome resulting from mutations in mitochondrial DNA. A neuropsychological profile of MELAS typically shows deficits executive function, attention, language, memory, visuospatial, motor functioning. To our knowledge, has been studied single cases only. Here we examine the juvenile ...
Diagnosis of mitochondrial neurogastrointestinal encephalomyopathy: Proposal of a clinical algorithm
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