A new patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria treated early with low protein diet
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01799457
Reference9 articles.
1. Fell, U., Pollitt, R. J., Sampson, G. A. and Wright, T. Ornithinemia, hyperammonemia and homocitrullinuria.Am. J. Dis. Child. 127 (1974) 752–756
2. Gatfield, P. D., Taller, E., Wolfe, D. M. and Haust, M. D. Hyperornithinemia, hyperammonemia and homocitrullinuria associated with decreased carbamoyl phosphate synthetase I activity.Pediatr. Res. 9 (1975) 488–497
3. Gray, R. G. F., Hills, S. E. and Politt, R. J. Reduced ornithine catabolism in cultured fibroblasts and phytohemagglutinin stimulated lymphocytes from a patient with the hyperornithinemia, hyperammonemia and homocitrullinuria syndrome.Clin. Chim. Acta 118 (1982) 141–148
4. Hommes, F. A., Ho, C. K., Roesel, R. A., Coryell, M. E. and Gordon, B. A. Decreased transport of ornithine across the inner mitochondrial membrane as a cause of hyperornithinemia.J. Inher. Metab. Dis. 5 (1982) 41–47
5. Metoki, K., Hommes, F. A., Dyken, P., Kelloes, C. and Trefz, J. Ultrastructural changes in fibroblast mitochondria of a patient with HHH syndrome.J. Inher. Metab. Dis. 7 (1984) 147–150
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