Variants of citrullinaemia
| Autor: | U Wiesmann, H. Wick, C. Bachmann, M J Mihatsch, H. Ohnacker, J. P. Colombo, T Brechbühler, Baumgartner Re |
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| Rok vydání: | 1973 |
| Předmět: |
Electrophoresis
Male Pediatrics medicine.medical_specialty Spasm Disease Infant Newborn Diseases Ammonia medicine Edema Humans Urea Amino Acids Amino Acid Metabolism Inborn Errors Lung Chromatography business.industry Infant Newborn Brain Surgery Microscopy Electron Dyspnea Liver Pediatrics Perinatology and Child Health Citrulline business Research Article |
| Zdroj: | Archives of disease in childhood. 48(8) |
| ISSN: | 1468-2044 |
| Popis: | Wick, H., Bachmann, C., Baumgartner, R., Brechbuhler, T., Colombo, J. P., Wiesmann, U., Mihatsch, M. J., and Ohnacker, H. (1973). Archives ofDisease in Childhood, 48, 636. Variants of citrullinaemia. Three patients with citrullinaemia are described. In 2 the disease ran a rapidly fatal course. The third patient developed normally. Necropsy was performed on the 2 patients with the acute form of the disease; the main changes were in the brain and liver. Comparing the 3 patients with 5 patients in published reports, the degree of hyperammonaemia is the main determinant of the effects of the metabolic error, and prognosis is governed |
| Databáze: | OpenAIRE |
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