The mechanism of hyperammonaemia and hyperornithinaemia in the syndrome of hyperornithinaemia, hyperammonaemia with homocitrullinuria
- 1 June 1983
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 6 (3) , 133-134
- https://doi.org/10.1007/bf01800748
Abstract
No abstract availableKeywords
This publication has 6 references indexed in Scilit:
- Defective ornithine metabolism in cultured skin fibroblasts from patients with the syndrome of hyperornithinemia, hyperammonemia and homocitrullinuriaClinica Chimica Acta; International Journal of Clinical Chemistry, 1982
- Decreased transport of ornithine across the inner mitochondrial membrane as a cause of hyperornithinaemiaJournal of Inherited Metabolic Disease, 1980
- Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Associated with Decreased Carbamyl Phosphate Synthetase I ActivityPediatric Research, 1975
- Psychomotor retardation, epileptic and stuporous attacks, irritability and ataxia associated with ammonia intoxication, high blood ornithine levels and increased homocitruline in the urine.1973
- Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation.1969
- Hyperornithinemia, Hyperammonemia, and HomocitrullinuriaAmerican Journal of Diseases of Children, 1969