User menu

L-2-Hydroxyglutaric aciduria: clinical, genetic, and brain MRI characteristics in two adult sisters.

Bibliographic reference Goffette, Sophie ; Duprez, Thierry ; Nassogne, Marie-Cécile ; Vincent, M-F A ; Jakobs, C. ; et. al. L-2-Hydroxyglutaric aciduria: clinical, genetic, and brain MRI characteristics in two adult sisters.. In: European Journal of Neurology, Vol. 13, no. 5, p. 499-504 (2006)
Permanent URL http://hdl.handle.net/2078.1/29462
  1. Duran M., Kamerling J. P., Bakker H. D., van Gennip A. H., Wadman S. K., L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?, 10.1007/bf02312543
  2. Barth Peter G., Hoffmann Georg F., Jaeken Jaak, Lehnert Willy, Hanefeld Folker, Van Gennip Albert H., Duran Marinus, Valk Jaap, Schutgens Ruud B. H., Trefz Friedrich K., Reimann Gabriele, Hartung Hans-Peter, L-2-hydroxyglutaric acidemia: A novel inherited neurometabolic disease, 10.1002/ana.410320111
  3. Chen E., Nyhan W. L., Jakobs C., Greco C. M., Barkovich A. J., Cox V. A., Packman S., l-2-Hydroxyglutaric aciduria: Neuropathological correlations and first report of severe neurodegenerative disease and neonatal death, 10.1007/bf01799264
  4. Fujitake J., Ishikawa Yasuhiro, Fujii Hayato, Nishimura Kazumasa, Hayakawa Katsumi, Inoue Fumio, Terada Naoto, Okochi Masakazu, Tatsuoka Yoshihisa, l -2-Hydroxyglutaric aciduria: two Japanese adult cases in one family, 10.1007/s004150050367
  5. Barbot Clara, Fineza Isabel, Diogo Luisa, Maria Maria, Melo José, Guimara˜es António, Melo Pires Manuel, Luis Cardoso Maria, Vila rinho Laura, l-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients, 10.1016/s0387-7604(97)00574-3
  6. Junqueira Débora, Brusque Ana M., Porciúncula Lisiane O., Rotta Liane N., Ribeiro César A. J., Frizzo Marcos E. S., Filho Carlos S. Dutra, Wannmacher Clóvis M. D., Wyse Angela T. S., Souza Diogo O., Wajner Moacir, 10.1023/a:1025559200816
  7. Topçu Meral, Jobard Florence, Halliez Sophie, Coskun Turgay, Yalçinkayal Cengiz, Gerceker Filiz Ozbas, Wanders Ronald J.A., Prud'homme Jean-François, Lathrop Mark, Özguc Meral, Fischer Judith, l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1, 10.1093/hmg/ddh300
  8. Rzem R., Veiga-da-Cunha M., Noel G., Goffette S., Nassogne M.-C., Tabarki B., Scholler C., Marquardt T., Vikkula M., Van Schaftingen E., A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria, 10.1073/pnas.0404840101
  9. 9.MS van der Knaap, and J Valk , Magnetic Resonance of Myelin, Myelination and Myelin Disorders . Heidelberg: Springer-Verlag, 1995 ; pp. 220 -223 .
  10. Moroni I., D'Incerti L., Farina L., Rimoldi M., Uziel G., Clinical, biochemical and neuroradiological findings in L -2-hydroxyglutaric aciduria, 10.1007/s100720070104
  11. Topcu M, Journal of Child Neurology, 1, 373 (1996)
  12. Hanefeld F, Pediatric Research, 35, 614 (1994)
  13. Sener R. Nuri, L-2 Hydroxyglutaric Aciduria: Proton Magnetic Resonance Spectroscopy and Diffusion Magnetic Resonance Imaging Findings : , 10.1097/00004728-200301000-00008
  14. Vion-Dury J, Journal of Neuroradiology. Journal de Neuroradiologie, 25, 281 (1998)
  15. Latini Alexandra, Scussiato Karina, Borba Rosa Rafael, Leipnitz Guilhian, Llesuy Susana, Belló-Klein Adriane, Dutra-Filho Carlos Severo, Wajner Moacir, Induction of oxidative stress by L-2-hydroxyglutaric acid in rat brain : L-2-Hydroxyglutaric Acid and Oxidative Stress, 10.1002/jnr.10735
  16. da Silva Cleide G, Bueno Ana Rúbia F, Schuck Patrı́cia F, Leipnitz Guilhian, Ribeiro César A.J, Wannmacher Clóvis M.D, Wyse Angela T.S, Wajner Moacir, l-2-Hydroxyglutaric acid inhibits mitochondrial creatine kinase activity from cerebellum of developing rats, 10.1016/s0736-5748(03)00035-2