ISSN:
1432-1076
Keywords:
Carbamyl phosphate synthetase
;
Hyperammonaemia
;
Newborn
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract A neonate with pronounced hyperammonaemia died at the age of 6 days. Absence of liver carbamyl phosphate synthetase activity was demonstrated. This is the eighth reported patient with a severe variant of isolated mitochondrial carbamyl phosphate synthetase deficiency.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00442085
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