نتایج جستجو برای: neurometabolic disorders
تعداد نتایج: 671446 فیلتر نتایج به سال:
OBJECTIVE Adrenoleukodystrophy disorder is one of the x-linked genetic disorders caused by the myelin sheath breakdown in the brain. In this study, we present 4 yr experience on this disorder. MATERIALS & METHODS The patients diagnosed as adrenoleukodystrophy in the Neurology Department of Mofid Children's Hospital in Tehran, Iran from 2010 to 2014 were enrolled into the study. The disorder w...
Introduction Currently a definitive diagnosis of Alzheimer’s disease (AD) is only possible postmortem, by detecting the two hallmarks of the disease: amyloid plaques and neurofibrillary tangles in the brain tissue. There is thus a great need for in vivo biomarkers to diagnose AD with high specificity and sensitivity. Proton magnetic resonance spectroscopy (H MRS) provides a non-invasive way to ...
Rett syndrome is a progressive, usually sporadic and rarely familial, disabling neurodevelopmental disorder with onset in early childhood presenting clinically with mental retardation, behavioral changes, late movement disturbances, loss of speech and hand skills, ataxia, apraxia, irregular breathing with hyperventilation while awake, and frequent seizures. It occurs almost exclusively in femal...
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