Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria-Reference-Cited by-同舟云学术

Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria

Published:2014-02-27 Issue:4 Volume:59 Page:216-222
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Jellouli Nadege Kammoun, ,Hadj Salem Ikhlass,Ellouz Emna,Kamoun Zeineb,kamoun Fatma,tlili Abdelaziz,Kaabachi Naziha,Triki Chanez,Fakhfakh Faiza

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg20144.pdf

Reference34 articles.

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2. Chen, E., Nyhan, W. L., Jakobs, C., Greco, C. M., Barkovich, A. J., Cox, V. A. et al. L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death. J. Inherit. Metab. Dis. 19, 335–343 (1996).

3. Barth, P. G., Wanders, R. J., Scholte, H. R., Abeling, N., Jakobs, C., Schutgens, R. B. et al. L-2-hydroxyglutaric aciduria and lactic acidosis. J. Inherit. Metab. Dis. 21, 251–254 (1998).

4. Hanefeld, F., Kruse, B., Bruhn, H. & Frahm, J. In vivo proton magnetic resonance spectroscopy of the brain in a patient with L-2-hydroxyglutaric acidemia. Pediatr. Res. 35, 614–616 (1994).

5. Latini, A., Scussiato, K., Rosa, R. B., Leipnitz, G., Llesuy, S., Belló-Klein, A. et al. Induction of oxidative stress by L-2-hydroxyglutaric acid in rat brain. J. Neurosci. Res. 74, 103–110 (2003).

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