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pro vyhledávání: '"Jayanth Moode"'
Autor:
Venugopal Kota, Prashant Rao, Jyoti Parag Dekate, Balbir Singh, Dharmesh Kapoor, Priya Nathani, Jayanth Moode, Rajiv Maharaj
Publikováno v:
J Clin Exp Hepatol
Citrullinaemia is a urea cycle defect that results from a deficiency of the enzyme arginosuccinate synthetase. Type 1 disease is diagnosed in childhood, whereas type 2 disease is adult onset. But, we report the outcome in a boy (13 years) with citrul