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See Latest ArticlesRemittent hyperammonemia in congenital portosystemic shunt
European Journal of Pediatrics, 07/22/09
Ferrero GB et al. – The authors report the case of three boys with neuropsychological symptoms associated with mild fasting hyperammonemia. An oral protein load allowed the detection of a detoxication defect due to PSS related to PDV. This simple procedure can be worthwhile of attention in patients with mental retardation, behavior disturbances, and learning difficulties after exclusion of common causes of inherited hyperammonemia, namely, urea cycle disorders, organic acidemias, and fatty acid oxidation defects.
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