Article
Optimizing therapy for argininosuccinic aciduria.
Molecular genetics and metabolism - 1 Sept 2012
Nagamani Sandesh C S, Lee Brendan, Erez Ayelet
Abstract excerpt
Argininosuccinic aciduria (ASA) is a urea cycle disorder with a complex phenotype. In spite of a lower risk for recurrent hyperammonemic episodes as compared to the proximal disorders of ureagenesis, subjects with ASA are at risk for long-term complications including, poor neurocognitive outcome, hepatic disease and systemic hypertension. These complications can occur in spite of current standard therapy that...
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