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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2004 | 2 |
2005 | 2 |
2006 | 1 |
2024 | 0 |
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Page 1
L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.
Hum Mol Genet. 2004 Nov 15;13(22):2803-11. doi: 10.1093/hmg/ddh300. Epub 2004 Sep 22.
Hum Mol Genet. 2004.
PMID: 15385440
A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria.
Rzem R, Veiga-da-Cunha M, Noël G, Goffette S, Nassogne MC, Tabarki B, Schöller C, Marquardt T, Vikkula M, Van Schaftingen E.
Rzem R, et al.
Proc Natl Acad Sci U S A. 2004 Nov 30;101(48):16849-54. doi: 10.1073/pnas.0404840101. Epub 2004 Nov 17.
Proc Natl Acad Sci U S A. 2004.
PMID: 15548604
Free PMC article.
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The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase.
Rzem R, Van Schaftingen E, Veiga-da-Cunha M.
Rzem R, et al.
Biochimie. 2006 Jan;88(1):113-6. doi: 10.1016/j.biochi.2005.06.005. Epub 2005 Jun 23.
Biochimie. 2006.
PMID: 16005139
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Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.
Vilarinho L, Cardoso ML, Gaspar P, Barbot C, Azevedo L, Diogo L, Santos M, Carrilho I, Fineza I, Kok F, Chorão R, Alegria P, Martins E, Teixeira J, Cabral Fernandes H, Verhoeven NM, Salomons GS, Santorelli FM, Cabral P, Amorim A, Jakobs C.
Vilarinho L, et al.
Hum Mutat. 2005 Oct;26(4):395-6. doi: 10.1002/humu.9373.
Hum Mutat. 2005.
PMID: 16134148
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