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International Journal of Neuroscience Volume 119, 2009 - Issue 11
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Brief Reports

Tracing the Origin of L-2-Hydroxyglutaric Aciduria in a Family

Jörn Oliver Sass Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Mathildenstr. 1, 79106, Freiburg, Germany
,
Janet S. Romrell Department of Neurology, University of Florida Movement Disorders Center, McKnight Brain Institute, Gainesville, Florida, USA
,
Sarah Y. Vinson Department of Neurology, University of Florida Movement Disorders Center, McKnight Brain Institute, Gainesville, Florida, USA
,
Hubert H. Fernandez Department of Neurology, University of Florida Movement Disorders Center, McKnight Brain Institute, Gainesville, Florida, USA
,
Judith Fischer CEA, Institut de Génomique, Centre National de Génotypage, Evry, France
,
Ramon L. Rodriguez Department of Neurology, University of Florida Movement Disorders Center, McKnight Brain Institute, Gainesville, Florida, USA
&
Michael S. Okun Department of Neurology, University of Florida Movement Disorders Center, McKnight Brain Institute, Gainesville, Florida, USA
 show all
Pages 2118-2123 | Received 18 Dec 2009, Published online: 08 Oct 2009

REFERENCES

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  • Goffette S. M., Duprez T. P., Nassogne M. C., Vincent M. F., Jakobs C., Sindic C. J. L-2-Hydroxyglutaric aciduria: Clinical, genetic, and brain MRI characteristics in two adult sisters. European Journal of Neurology 2006; 13(5)499–504
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  • Owens W. E., Okun M. S. Dystonia, tremor, and parkinsonism in a 54 year old man with 2-hydroxyglutaric aciduria. Journal of Neurology, Neurosurgery, and Psychiatry 2004; 75(9)1362–1363
  • Rzem R., Veiga-da-Cunha M., Noël G., Moffette S., Nassogne M. C., Tabarri B., et al. A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. Proceedings of the National Academy of Sciences of the United States of America 2004; 101(48)16849–16854
  • Seijo-Martínez M., Navarro C., Castro del Río M., Vila O., Puig M., Ribes A., et al. L-2-hydroxyglutaric aciduria: Clinical, neuroimaging, and neuropathological findings. Archives of Neurology 2005; 62(4)666–670
  • Topçu M., Jobard F., Halliez S., Coskun T., Yalçinkayal C., Gerceker F. O., et al. L-2-Hydroxyglutaric aciduria: Identification of a mutant gene C14orf160, localized on chromosome 14q22.1. Human Molecular Genetics 2004; 13(22)2803–2811

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