نتایج جستجو برای: neurometabolic disorders
تعداد نتایج: 671446 فیلتر نتایج به سال:
Adenylosuccinate lyase (ADSL) deficiency is a rare autosomal recessive neurometabolic disorder that presents with a broad-spectrum of neurological and physiological symptoms. The ADSL gene produces an enzyme with binary molecular roles in de novo purine synthesis and purine nucleotide recycling. The biochemical phenotype of ADSL deficiency, accumulation of SAICAr and succinyladenosine (S-Ado) i...
OBJECTIVE Phenylketonuria is one of the most common metabolic disorders and the first known cause of mental retardation in pediatrics. As Screening for phenylketonuria (PKU) is not a routine neurometabolic screening test for neonates in Iran, many PKU cases may be diagnosed after developing the clinical symptoms. One of the findings of PKU is myelination disorders, which is seen as hypersignal ...
In neuropsychiatric research, the aspects of sex have received increasing attention over the past decade. With regard to the neurometabolic differences in the prefrontal cortex and the cerebellum of both men and women, we performed a magnetic resonance spectroscopic (MRS) study of a large group of healthy subjects. For neurometabolic measurements, we used single-voxel proton MRS. The voxels of ...
OBJECTIVE Propionic acidemia is one of the rare congenital neurometabolic disorders with autosomal recessive inheritance. This disorder is caused by a defect in the propionyl-CoA carboxylase enzyme and can be presented with life-threatening ketoacidosis, lethargy, failure to thrive, and developmental delay. MATERIALS & METHODS The patients diagnosed as having propionic acidemia in Neurology D...
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.
The neurobiological bases of mood instability are poorly understood. Neuronal network alterations and neurometabolic abnormalities have been implicated in the pathophysiology anxiety conditions associated with hence candidate mechanisms underlying its neurobiology. Fast-spiking parvalbumin GABAergic interneurons modulate activity principal excitatory neurons through their inhibitory action dete...
Dystonia in childhood may be severely disabling and often unremitting and unrecognized. Considered a rare disorder, dystonic symptoms in childhood are pervasive in many conditions including disorders of developmental delay, cerebral palsy (CP), autism, neurometabolic, neuroinflammatory, and neurogenetic disorders. Collectively, there is a need to recognize the role of early postures and movemen...
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