Late-onset form of partial N-acetylglutamate synthetase deficiency

Author:

Elpeleg O. N.,Colombo J. P.,Amir N.,Bachmann C.,Hurvitz H.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Reference9 articles.

1. Bachmann C, Colombo JP (1980) Determination of orotic acid in children's urine. J Clin Chem Clin Biochem 18:293–295

2. Bachmann C, Krahenbuhl S, Colombo JP, Schubiger G, Jaggi KH, Tonz O (1981) N-Acetylglutamate synthetase deficiency: a disorder of ammonia detoxification. N Engl J Med 304:543

3. Bachmann C, Brandis M, Weissenbarth-Riedel E, Bughard R, Colombo JP (1988) N-Acetylglutamate synthetase deficiency, a second case. J Inherited Metab Dis 11:191–193

4. Brown GW, Cohen PP (1959) Comperative biochemistry of urea sythesis. I. Methods for the quantitative assay of urea cycle enzymes in liver. J Biol Chem 234:1769–1774

5. Campbell AGM, Rosenberg LE, Snodgrass PI, Nuzum CT (1973) Ornithine transcarbamylase deficiency. N Engl J Med 288:1–12

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