PartialN‐acetylglutamate synthetase deficiency: A new case with uncontrollable movement disorders
- 1 May 1992
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 15 (3) , 395-398
- https://doi.org/10.1007/bf02435986
Abstract
No abstract availableThis publication has 7 references indexed in Scilit:
- N-Acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxicationEuropean Journal of Pediatrics, 1991
- Late-onset form of partial N-acetylglutamate synthetase deficiencyEuropean Journal of Pediatrics, 1990
- Determination of urinary orotate excretion by high-performance liquid chromatographyJournal of Chromatography B: Biomedical Sciences and Applications, 1989
- N‐acetylglutamate synthetase deficiency, a second patientJournal of Inherited Metabolic Disease, 1987
- N-Acetylglutamate Synthetase: Enzyme Assay in Human Livercclm, 1982
- HealersNew England Journal of Medicine, 1981
- N-Acetylglutamate Synthetase Deficiency: A Disorder of Ammonia DetoxicationNew England Journal of Medicine, 1981