نتایج جستجو برای: adrenoleukodystrophy
تعداد نتایج: 2020 فیلتر نتایج به سال:
Results 8 patients were male, onset age ranged from 5-11 years old, and the course of disease was from 4 months to 3 years. 3 patients presented with reduced vision, 2 patients presented with hyperpigmentation and all patients show different degree nervous system symptoms, such as intelligence breakdown, attention deficit, coordination and communication ability decrease, etc. The measurement of...
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease resulting from mutations in the gene ABCD1 and alterations in peroxisomal beta-oxidation of long chain fatty acids. As it has been frequently discussed, it manifests a wide range of phenotypes in male, with progressive myelopathy being the most common. Even though the gene is localized to the X-chromosome and a region subject ...
OBJECTIVE To evaluate the clinical, biochemical, neuroradiological, and neurophysiological findings of patients with X-linked adrenoleukodystrophy. METHODS Retrospective study evaluating the data of 10 X-linked adrenoleukodystrophy patients diagnosed at King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. RESULTS The common presenting symptoms were deterioration in sch...
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