نتایج جستجو برای: neurometabolic disorder
تعداد نتایج: 597203 فیلتر نتایج به سال:
how to cite this article: ahmadabadi f. neurometabolic registry site in iran (leukodystrophies). iran j child neurol. autumn 2014;8;4(suppl.1):22. pls see pdf.
Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder characterized by defective degradation of gamma-aminobutyric acid (GABA), major inhibitory neurotransmitter the brain. Children with SSADH present motor mental delay, intractable seizures, infantile onset hypotonia, speech disturbances, extrapyramidal symptoms and ataxia. This wide spectrum results from inc...
pls see pdf.
1 2 Neurometabolic coupling in the lateral geniculate nucleus changes 3 with extended age 4 Baowang Li and Ralph D. Freeman* 5 Group in Vision Science, School of Optometry, Helen Wills Neurosciences Institute, 6 University of California, Berkeley, CA 94720-2020 7 *Correspondence to: 8 Ralph D. Freeman 9 360 Minor Hall, University of California at Berkeley 10 Berkeley, CA 94720-2020 11 freeman@n...
OBJECTIVE Methylmalonic acidemia is one of the inborn errors of metabolism resulting in the accumulation of acylcarnitine in blood and increased urinary methylmalonic acid excretion. This disorder can have symptoms, such as neurological and gastrointestinal manifestations, lethargy, and anorexia. MATERIALS & METHODS The patients who were diagnosed as methylmalonic acidemia in the Neurology De...
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