نتایج جستجو برای: neurometabolic disorder

تعداد نتایج: 597203  

2014
P Dinesh M Madan Raj S Gita

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...

Journal: :Physical medicine and rehabilitation clinics of North America 2011
Maegan D Sady Christopher G Vaughan Gerard A Gioia

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...

Journal: :Pediatric endocrinology reviews : PER 2007
Anthony Luder

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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