Online Mendelian Inheritance in Man (OMIM)
- ️Wed Dec 22 2021
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Ma, S., Sun, R., Jiang, B., Gao, J., Deng, W., Liu, P., He, R., Cui, J., Ji, M., Yi, W., Yang, P., Wu, X., Xiong, Y., Qiu, Z., Ye, D., Guan, K.-L. L2hgdh deficiency accumulates L-2-hydroxyglutarate with progressive leukoencephalopathy and neurodegeneration. Molec. Cell. Biol. 37: e00492-16, 2017. Note: Electronic Article. [PubMed: 28137912] [Full Text: https://doi.org/10.1128/MCB.00492-16]
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Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., Zecha, A., Mohseni, M., and 33 others. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 478: 57-63, 2011. [PubMed: 21937992] [Full Text: https://doi.org/10.1038/nature10423]
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Penderis, J., Calvin, J., Abramson, C., Jakobs, C., Pettitt, L., Binns, M. M., Verhoeven, N. M., O'Driscoll, E., Platt, S. R., Mellersh, C. S. L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model. (Letter) J. Med. Genet. 44: 334-340, 2007. [PubMed: 17475916] [Full Text: https://doi.org/10.1136/jmg.2006.042507]
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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. Proc. Nat. Acad. Sci. 101: 16849-16854, 2004. [PubMed: 15548604] [Full Text: https://doi.org/10.1073/pnas.0404840101]
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Seijo-Martinez, M., Navarro, C., Castro del Rio, M., Vila, O., Puig, M., Ribes, A., Butron, M. L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings. Arch. Neurol. 62: 666-670, 2005. [PubMed: 15824270] [Full Text: https://doi.org/10.1001/archneur.62.4.666]
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Suhs, K. W., Erdmann, P., Shamdeen, M. G., Papanagiotou, P., Dillmann, U. Adult manifestation of L-2-hydroxyglutarate dehydrogenase deficiency by a novel mutation. Neurology 78: 1186-1187, 2012. [PubMed: 22459673] [Full Text: https://doi.org/10.1212/WNL.0b013e31824f8033]
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Topcu, M., Jobard, F., Halliez, S., Coskun, T., Yalcinkayal, C., Gerceker, F. O., Wanders, R. J. A., Prud'homme, J.-F., Lathrop, M., Ozguc, M., Fischer, J. L-2-hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. Hum. Molec. Genet. 13: 2803-2811, 2004. [PubMed: 15385440] [Full Text: https://doi.org/10.1093/hmg/ddh300]
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