نتایج جستجو برای: neurometabolic disorder
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Background Wilson disease (WD) is an inherited neurometabolic disorder that results in excessive copper deposition in the liver and the brain, affecting children and young adults. Without treatment the disease is invariably fatal. Though treatments for WD have been available since the 1950s, the disease continues to be associated with considerable morbidity and mortality because of missed diagn...
A 9-month-old boy with a history of seizures underwent a neurologic and biochemical-genetic evaluation. The brain MRI results were compatible with a diagnosis of Leigh disease, also known as subacute necrotizing encephalomyelopathy, a rare neurometabolic disorder that affects the central nervous system. The patient had been prescribed several antiepileptic medications, including levetiracetam, ...
how to cite this article: karimzadeh p, jafari n, nejad biglari h, jabbeh dari s, ahmad abadi f, alaee mr, nemati h, saket s, tonekaboni sh, taghdiri mm, ghofrani m. gm2-gangliosidosis (sandhoff and tay sachs disease): diagnosis and neuroimaging findings (an iranian pediatric case series) iran j child neurol. 2014 summer;8(3): 55-60. abstract objective gm2-gangliosidosis disease is a rare aut...
The purpose of this study was to identify the biochemical and genetic defect in L-2-hydroxyglutaric aciduria, a neurometabolic disorder characterized by the presence of elevated concentrations of L-2-hydroxyglutaric acid in urine, plasma, and cerebrospinal fluid. Evidence is provided for the existence in rat tissues of a FAD-dependent enzyme catalyzing specifically the oxidation of L-2-hydroxyg...
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