Treatment of two children with hereditary tyrosinaemia type I and long-standing renal disease with a 4-hydroxyphenylpyruvate dioxygenase inhibitor (NTBC)-Reference-Cited by-同舟云学术

Treatment of two children with hereditary tyrosinaemia type I and long-standing renal disease with a 4-hydroxyphenylpyruvate dioxygenase inhibitor (NTBC)

Published:1996-03 Issue:2 Volume:19 Page:234-238
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Pronicka E.,Rowinska E.,Bentkowski Z.,Zawadzki J.,Holme E.,Lindstedt S.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/BF01799438

Reference10 articles.

1. Edelmann Jr CM, Soriano JR, Boichis H, Gruskin AB, Acosta MI (1967) Renal bicarbonate reabsorption and hydrogen ion excretion in normal infants.J Clin Invest 46: 1309–1317.

2. Gibbs TC, Payan J, Brett EM, Lindstedt S, Holme E, Clayton P (1993) Peripheral neuropathy as the presenting feature of tyrosinemia type I and effectively treated with an inhibitor of 4-hydroxyphenylpyruvate dioxygenase.J Neurol Neurosurg Psychiatry 56: 1129–1132.

3. Kvittingen EA, Talseth T, Halvorsen S, Jakobs C, Hovig T, Flatmark A (1991) Renal failure in adult patients with hereditary tyrosinaemia type I.J Inher Metab Dis 14: 53–62.

4. Laine J, Salo MK, Krogerus L, Kärkkäinen J, Wahlroos Ö, Holmberg C (1995) The nephropathy of type I tyrosinemia after liver transplantation.Pediatr Res 37: 640–645.

5. Lindstedt S, Holme E, Lock EA, Hjalmarsson O, Strandvik B (1992) Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase.Lancet 340: 813–817.

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