Renal failure in adult patients with hereditary tyrosinaemia type I

Author:

Kvittingen E. A.,Talseth T.,Halvorsen S.,Jakobs C.,Hovig T.,Flatmark A.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference12 articles.

1. Collier, H. B. A study of the determination of 5-aminolevulinate hydrolyase (δ-aminolevulinate dehydratase) activity in hemolysates of human erythrocytes.Clin. Biochem. 4 (1971) 222–232

2. Gentz, J., Jagenburg, R. and Zetterstrom, R. Tyrosinemia. An inborn error of tyrosine metabolism with cirrhosis of the liver and multiple renal tubular defects (deToni-Debre-Fanconi syndrome).J. Pediatr. 66 (1965) 670–696

3. Gentz, J., Lindblad, B., Lindstedt, S. and Zetterstrom, R. Studies on the metabolism of the phenolic acids in hereditary tyrosinemia by a gas-liquid chromatographic method.J. Lab. Clin. Med. 74 (1969) 185–202

4. Grenier, A., Lescault, A., Laberge, C., Gagne, R. and Mamer, O. Detection of succinylacetone and the use of its measurement in mass screening for hereditary tyrosinemia.Clin. Chim. Acta 123 (1982) 93–99

5. Jakobs, C., Dorland, L., Wikkerink, B., Kok, R. M., de Jong, A. P. J. M. and Wadman, S. K. Stable isotope dilution analysis of succinylacetone using electron capture negative ion mass fragmetography: an accurate approach to the pre- and neonatal diagnosis of hereditary tyrosinemia type I.Clin. Chim. Acta 223 (1986) 223–232

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