N-Acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication
- 1 March 1991
- journal article
- case report
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 150 (5) , 353-356
- https://doi.org/10.1007/bf01955939
Abstract
No abstract availableKeywords
This publication has 12 references indexed in Scilit:
- N‐acetylglutamate synthetase deficiency, a second patientJournal of Inherited Metabolic Disease, 1987
- Acute and chronic effects of carbamyl glutamate on blood urea and ammoniaEuropean Journal of Pediatrics, 1985
- Liver pathology in a new congenital disorder of urea synthesis: N-acetylglutamate synthetase deficiencyVirchows Archiv, 1985
- Treatment of Inborn Errors of Urea SynthesisNew England Journal of Medicine, 1982
- N-Acetylglutamate Synthetase: Enzyme Assay in Human Livercclm, 1982
- N-Acetylglutamate Synthetase (NAGS) Deficiency : Diagnosis, Clinical Observations and TreatmentPublished by Springer Nature ,1982
- HealersNew England Journal of Medicine, 1981
- NEW PATHWAYS OF NITROGEN EXCRETION IN INBORN ERRORS OF UREA SYNTHESISThe Lancet, 1979
- Ammonia Intoxication in Rats: Protection by N -Carbamoyl-L-Glutamate Plus L-ArginineProceedings of the National Academy of Sciences, 1972
- TREATMENT OF HEPATOCEREBRAL INTOXICATIONThe Lancet, 1958