نتایج جستجو برای: leukodystrophy
تعداد نتایج: 2650 فیلتر نتایج به سال:
Introduction: Alexander disease is a heterogenous group of diseases with various manifestations based on age of disease onset. This rare leukodystrophy syndrome with mutations in GFAP Gene could present with developmental delay and seizure in infantile form to ataxia and bulbar palsy in adulthood. However psychiatric symptoms are not well-defined and usually evaluate after disease diagnosis not...
The disorders of peroxisomal /?-oxidation, which have been well characterised at the molecular level, include defects of acyl-CoA oxidase, defects of the D-bifunctional protein (D-BP) (including specific defects of its enoyl-CoA hydratase and D-3-hydroxyacyl-CoA dehydrogenase components), defects of the very-long-chain fatty acid (VLCFA)-CoA importer [X-linked adrenoleukodystrophy (ALD)] and a-...
Herein the case of a 10-month-old boy with metachromatic leukodystrophy is reported. Diffusion MR imaging performed with an echo-planar trace sequence revealed a cytotoxic edema-like pattern (high signal intensity on b = 1000 s/mm(2) images and low apparent diffusion coefficient values) in the affected white matter in the absence of an ischemic condition. This finding was unchanged at a 6-month...
Certain progressive cerebral diseases can present with emotional and behavioural disorders. The juvenile form of metachromatic leucodystrophy is one of these. The histories of two children with this condition are given to demonstrate the insidious form of onset.
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