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- Investigation of citrullinemia type I variants by in vitro...
...an allelic variant of classical citrullinemia type I also caused by deficiency of the urea cycle enzyme ... course of the disorder or its type - Fatal initial adult-onset presentation of urea cycle defect
...tohyperammonemic coma can occur with any disorder of the urea cycle. Hyperammonemic citrin deficiency (citrullinemia type II) usually presents...