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Items: 1 to 20 of 148

1.

L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.

Topçu M, Jobard F, Halliez S, Coskun T, Yalçinkayal C, Gerceker FO, Wanders RJ, Prud'homme JF, Lathrop M, Ozguc M, Fischer J.

Hum Mol Genet. 2004 Nov 15;13(22):2803-11. Epub 2004 Sep 22.

PMID:
15385440
2.

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.

Hum Mutat. 2005 Oct;26(4):395-6.

PMID:
16134148
3.

The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase.

Rzem R, Van Schaftingen E, Veiga-da-Cunha M.

Biochimie. 2006 Jan;88(1):113-6. Epub 2005 Jun 23.

PMID:
16005139
4.

L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings.

Haliloglu G, Jobard F, Oguz KK, Anlar B, Akalan N, Coskun T, Sass JO, Fischer J, Topcu M.

Neuropediatrics. 2008 Apr;39(2):119-22. doi: 10.1055/s-2008-1081217.

PMID:
18671189
5.

Identification of novel L2HGDH gene mutations and update of the pathological spectrum.

Vilarinho L, Tafulo S, Sibilio M, Kok F, Fontana F, Diogo L, Venâncio M, Ferreira M, Nogueira C, Valongo C, Parenti G, Amorim A, Azevedo L.

J Hum Genet. 2010 Jan;55(1):55-8. doi: 10.1038/jhg.2009.110. Epub 2009 Nov 13.

PMID:
19911013
6.

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.

Proc Natl Acad Sci U S A. 2004 Nov 30;101(48):16849-54. Epub 2004 Nov 17.

7.

D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders?

Korman SH, Salomons GS, Gutman A, Brooks R, Jakobs C.

Neuropediatrics. 2004 Jun;35(3):151-6.

PMID:
15248096
8.

Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.

Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, Verhoeven NM, Jakobs C.

Am J Hum Genet. 2005 Feb;76(2):358-60. Epub 2004 Dec 17.

9.

L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair.

Van Schaftingen E, Rzem R, Veiga-da-Cunha M.

J Inherit Metab Dis. 2009 Apr;32(2):135-42. doi: 10.1007/s10545-008-1042-3. Epub 2008 Nov 21. Review.

PMID:
19020988
10.

Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria.

Moroni I, D'Incerti L, Farina L, Rimoldi M, Uziel G.

Neurol Sci. 2000 Apr;21(2):103-8.

PMID:
10938189
11.

L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings.

Seijo-Martínez M, Navarro C, Castro del Río M, Vila O, Puig M, Ribes A, Butron M.

Arch Neurol. 2005 Apr;62(4):666-70.

PMID:
15824270
12.

L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase.

Barth PG, Hoffmann GF, Jaeken J, Wanders RJ, Duran M, Jansen GA, Jakobs C, Lehnert W, Hanefeld F, Valk J, et al.

J Inherit Metab Dis. 1993;16(4):753-61.

PMID:
8412018
13.

L-2-Hydroxyglutaric aciduria presenting with severe autistic features.

Zafeiriou DI, Ververi A, Salomons GS, Vargiami E, Haas D, Papadopoulou V, Kontopoulos E, Jakobs C.

Brain Dev. 2008 Apr;30(4):305-7. Epub 2007 Nov 5.

PMID:
17981416
14.

Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.

Struys EA, Korman SH, Salomons GS, Darmin PS, Achouri Y, van Schaftingen E, Verhoeven NM, Jakobs C.

Ann Neurol. 2005 Oct;58(4):626-30.

PMID:
16037974
15.

Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds.

Faiyaz-Ul-Haque M, Al-Sayed MD, Faqeih E, Jamil M, Saeed A, Amoudi MS, Kaya N, Abalkhail H, Al-Abdullatif A, Rashed M, Al-Owain M, Peltekova I, Zaidi SH.

Ann Saudi Med. 2014 Mar-Apr;34(2):107-14. doi: 10.5144/0256-4947.2014.107.

16.

Tracing the origin of L-2-hydroxyglutaric aciduria in a family.

Sass JO, Romrell JS, Vinson SY, Fernandez HH, Fischer J, Rodriguez RL, Okun MS.

Int J Neurosci. 2009;119(11):2118-23.

PMID:
19863265
17.

L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene.

Sass JO, Jobard F, Topçu M, Mahfoud A, Werlé E, Cure S, Al-Sannaa N, Alshahwan SA, Bataillard M, Cimbalistiene L, Grolik C, Kemmerich V, Omran H, Sztriha L, Tabache M, Fischer J.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S275-9. doi: 10.1007/s10545-008-0855-4. Epub 2008 Apr 14.

PMID:
18415700
18.

Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.

Kranendijk M, Struys EA, Gibson KM, Wickenhagen WV, Abdenur JE, Buechner J, Christensen E, de Kremer RD, Errami A, Gissen P, Gradowska W, Hobson E, Islam L, Korman SH, Kurczynski T, Maranda B, Meli C, Rizzo C, Sansaricq C, Trefz FK, Webster R, Jakobs C, Salomons GS.

Hum Mutat. 2010 Mar;31(3):279-83. doi: 10.1002/humu.21186.

PMID:
20020533
19.

D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?

Struys EA, Verhoeven NM, Salomons GS, Berthelot J, Vianay-Saban C, Chabrier S, Thomas JA, Tsai AC, Gibson KM, Jakobs C.

Mol Genet Metab. 2006 May;88(1):53-7. Epub 2006 Jan 25.

PMID:
16442322
20.

L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family.

Fujitake J, Ishikawa Y, Fujii H, Nishimura K, Hayakawa K, Inoue F, Terada N, Okochi M, Tatsuoka Y.

J Neurol. 1999 May;246(5):378-82.

PMID:
10399870

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