Periodic attacks of lethargy in a baby with ammonia intoxication due to a congenital defect in ureogenesis.

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Periodic attacks of lethargy in a baby with ammonia intoxication due to a congenital defect in ureogenesis.

Hyperammonaemia due to a deficient urea cycle (Fig. 1) has been attributed to at least four distinct enzyme defects: (1) hyperanmmonaemia due to a defect of carbamyl-phosphate synthetase L. the liver (Freeman et al., 1964); (2) hyperammonaemia due to a defect of ornithine carbamyl transferase with or without defect of carbamyl phosphate synthetase in the liver (Russell et al., 1962; Hopkins et ...

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ژورنال

عنوان ژورنال: Archives of Disease in Childhood

سال: 1969

ISSN: 0003-9888,1468-2044

DOI: 10.1136/adc.44.238.681