Fumaric aciduria: an overview and the first Brazilian case report-Reference-Cited by-同舟云学术

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Fumaric aciduria: an overview and the first Brazilian case report

Published:2010-06-15 Issue:4 Volume:33 Page:411-419
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Allegri Gabriella,Fernandes Marcia J.,Scalco Fernanda B.,Correia Patricia,Simoni Ruth E.,Llerena Juan C.,de Oliveira Maria L. Costa

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-010-9134-2

Reference41 articles.

1. Akiba T, Hiraga K, Tuboi S (1984) Intracellular distribution of fumarase in various animals. J Biochem 26:189–195

2. Barnes LB, Bishop SH (1975) Adenylosuccinate lyase from human erythrocytes. Int J Biochem 6:497–503

3. Bayley JP, Launonen V, Tomlinson IPM (2008) The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. BMC Med Genet 9:20

4. Bonioli E, Di Stefano A, Peri V et al (1998) Fumarate hydratase deficiency. J Inherit Metab Dis 21:435–436

5. Bourgeron T, Chretien D, Poggi-Bach J et al (1994) Mutation of fumarase gene in two sibilings with progressive encephalopathy and fumarase deficiency. J Clin Invest 93:2514–2518

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