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Citrullinemia

[Clinical features: argininosuccinate synthase deficiency which causes an elevation of serum levels of citrulline; lethargy, hypotonia, and seizures in neonates; weakness, lethargy, ataxia, behavioral changes, and dysarthria in childhood and adult forms]

CT Findings in the Infantile Form of Citrullinemia
CT Findings in the Infantile Form of Citrullinemia
Localized Proton MR Spectroscopy in Infants with Urea Cycle Defect
American Journal of Neuroradiology
American Journal of Neuroradiology
American Journal of Neuroradiology

 
Neonatal Citrullinemia: Comparison of Conventional MR, Diffusion-Weighted, and Diffusion Tensor Findings
Neonatal Citrullinemia: Comparison of Conventional MR, Diffusion-Weighted, and Diffusion Tensor Findings
 
American Journal of Neuroradiology
American Journal of Neuroradiology
 


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Edited by Aldo Campana, March 14, 2010