Hyperargininemic Encephalopathy with Unique Clinical Presentation and Novel Genetic Mutations.
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DOI: 10.29271/jcpsp.2020.05.535
Abstract: Hyperargininemia is a urea cycle disorder that has rarely been reported in adults. We present a case of arginase deficiency disorder in a 32-year man with metabolic encephalopathy. He presented with progressive limb spasticity, changes… read more here.
Keywords: presentation novel; encephalopathy unique; hyperargininemic encephalopathy; unique clinical ... See more keywords