Cardiomyopathy in tyrosinaemia type I is common but usually benign
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-006-0203-5
Reference31 articles.
1. Anan R, Nakagawa M, Miyata M, et al (1995) Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. Circulation 91: 955–961.
2. Andre N, Roquelaure B, Jubin V, Ovaert C (2005) Successful treatment of severe cardiomyopathy with NTBC in a child with tyrosinaemia type I. J Inherit Metab Dis 28: 103–106.
3. Berger R, van Faassen H, Taanman JW, De Vries H, Agsteribbe E (1987) Type I tyrosinemia: lack of immunologically detectable fumarylacetoacetase enzyme protein in tissues and cell extracts. Pediatr Res 22: 394–398.
4. Berko BA, Swift M (1987) X-linked dilated cardiomyopathy. N Engl J Med 316: 1186–1191.
5. Briggs DW, Condie LW, Sedman RM, Tephly TR (1976) δ-Aminolevulinic acid synthetase in the heart. J Biol Chem 251: 4996–5001.
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