نتایج جستجو برای: neurometabolic disorder
تعداد نتایج: 597203 فیلتر نتایج به سال:
Leigh syndrome is a rare inherited neurometabolic subacute necrotizing encephalopathy mostly involving brainstem and basal ganglia, seen in the early childhood. It is characterized by progressive loss of mental and movement abilities associated with abnormal muscle tone, weakness, visual loss and respiratory failure. There is no effective treatment for this condition, as such the prognosis of t...
School learning and performance is arguably the critical centerpiece of child and adolescent development, and there can be significant temporary upset in cognitive processing after a mild traumatic brain injury, also called a concussion. This injury results in a cascade of neurochemical abnormalities, and, in the wake of this dysfunction, both physical and cognitive activities become sources of...
CATEGORIES ● Screening for Inborn Errors of Metabolism ● Hyperphenylalaninaemias and Biopterin Defects ● Organic Acid Disorders ● Other Amino Acid Disorders ● Fatty Acid Oxidation Defects ● Mitochondrial Disorders ● Carbohydrate Disorders ● Urea Cycle Disorders ● Purines and Pyrimidine Disorders ● Lipidoses / Fabry Disease ● Peroxisomal Disorders ● Metal and Vitamin Disorders ● Congenital Anoma...
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