l-2-Hydroxyglutaric aciduria: Clinical and molecular study in three Tunisian families. Identification of a new mutation and inter-familial phenotype variability-Reference-Cited by-同舟云学术

l-2-Hydroxyglutaric aciduria: Clinical and molecular study in three Tunisian families. Identification of a new mutation and inter-familial phenotype variability

Published:2008-09-13 Issue:S2 Volume:31 Page:375-379
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Larnaout A.,Amouri R.,Kefi M.,Hentati F.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-008-0934-6

Reference16 articles.

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2. Clerc C, Bataillard M, Richard P, et al (2000) An adult form of l-2-hydroxyglutaric aciduria revealed by tremor. Eur Neurol 43(2): 119–120. doi: 10.1159/000008149 .

3. de Klerk JB, Hujmans JG, Stroink H, et al (1997) l-2-Hydroxyglutaric aciduria (1997) Clinical heterogeneity versus biochemical homogeneity in a sibship. Neuropediatrics 28(6): 314–317. doi: 10.1055/s-2007-973722 .

4. Hussmann O, Hass D, Neubauer BA, et al (2006) l-2-Hydroxyglutaric aciduria—a rare cause of macrocephaly. [In German]. Klin Padiatr 218(2): 72–73. doi: 10.1055/s-2005-836848 .

5. Larnaout A, Amouri R, Neji S, et al (2007) Osteoma of the calvaria in l-2-hydroxyglutaric aciduria. J Inherit Metab Dis 30: 980. doi: 10.1007/s10545-007-0576-0 .

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