N-Acetylglutamate Synthetase (NAGS) Deficiency

Author:

Colombo J. P.

Publisher

Springer US

Reference37 articles.

1. Colombo, J.P. Argininaemia: clinical and biochemical aspects. Guanidino compounds in Biology and Medicine, eds. by De Deyn PP, Marescau V, Stalon V, Qureshi I.A. John Libbey and Company Ltd. 1992; 343–8.

2. Msall M, Batshaw ML, Suss R, Brusilow SW, Mellits ED. Neurologic outcome in children with inborn errors of urea synthesis. Outcome of Urea-Cycle Enzymopathies. N Eng J Med. 1984, 310:1500–5.

3. Colombo JP, Peheim E, Kretschmer R, Dauwalder H, Sidiropoulos D. Plasma ammonia concentrations in newborns and children. Clin Chim Acta. 1984; 138:283–91.

4. Cooper AJL, Nieves E, Coleman AE, Filc-De Ricco S, Gelbard AS. Short-term metabolic fate of [13N] ammonia in rat liver. J Biol Chem. 1987; 262:1073–80.

5. Bachmann C, Krähenbühl S, Colombo JP. N-Acetylglutamate synthetase deficiency: A disorder of ammonia detoxication. N Eng J Med. 1981, 304:543.

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