نتایج جستجو برای: neurometabolic disorders
تعداد نتایج: 671446 فیلتر نتایج به سال:
how to cite this article: mohammadi m. clinical neurophysiology in pediatric neurometabolic disorders. iran j child neurol autumn 2014;8:4 (suppl.1):7. pls see pdf.
A strong connection between neuronal and metabolic health has been revealed in recent years. It appears that both normal and pathophysiological aging, as well as neurodegenerative disorders, are all profoundly influenced by this "neurometabolic" interface, that is, communication between the brain and metabolic organs. An important aspect of this "neurometabolic" axis that needs to be investigat...
how to cite this article: karimzadeh p, jafari n, nejad biglari h, jabbehdari j, khayat zadeh s, ahmad abadi f, lotfi a. neurometabolic diagnosis in children who referred as neurodevelopmental delay (a practical criteria, in iranian pediatric patients). iran j child neurol. summer 2016; 10(3):73-81. objective we aimed to investigate the clinical and para clinical manifestations of neuro metab...
how to cite this article: karimzadeh p. approach to neurometabolic diseases from a pediatric neurological point of view. iran j child neurol. 2015 winter;9(1): 1-16. abstract objective neurometabolic disorders are an important group of diseases that mostly are presented in newborns and infants. neurological manifestations are the prominent signs and symptoms in this group of diseases. seizure...
Metabolic myopathies are characterized by the dysfunction of several metabolic pathways that results in a deficiency fuels required to generate energy for muscle contractions [...]
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...
Neurometabolic disorders are markedly heterogeneous, both clinically and genetically, and are characterized by variable neurological dysfunction accompanied by suggestive neuroimaging or biochemical abnormalities. Despite early specialist input, delays in diagnosis and appropriate treatment initiation are common. Next-generation sequencing approaches still have limitations but are already enabl...
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