Successful treatment of severe cardiomyopathy with NTBC in a child with tyrosinaemia type I
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-005-5085-4
Reference8 articles.
1. Berger R, van Faassen H, Smith GP (1983) Biochemical studies on the enzymatic deficiencies in hereditary tyrosinaemia. Clin Chim Acta 134: 129–141.
2. Edwards MA, Green A, Colli A, Rylance G (1987) Tyrosinaemia type I and hypertrophic obstructive cardiomyopathy. Lancet 1: 1437–1438.
3. Herman MA, Webber J, Fromm D, Kessel D (1998) Hemodynamic effects of 5-aminolevulinic acid in humans. J Photochem Photobiol 43: 61–65.
4. Hermes-Lima M, Valle VG, Vercesi AE, Bechara EJ (1991) Damage to rat liver mitochondria promoted by delta-aminolevulinic acid-generated reactive oxygen species: connections with acute intermittent porphyria and lead-poisioning. Biochim Biophys Acta 1056: 57–63.
5. Holme E, Lindstedt S (1998) Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione). J Inherit Metab Dis 21: 507–517.
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