These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

182 related items for PubMed ID: 16037974

  • 1. 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. PubMed ID: 16037974
    [Abstract] [Full Text] [Related]

  • 2. 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. PubMed ID: 15609246
    [Abstract] [Full Text] [Related]

  • 3. 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. PubMed ID: 16134148
    [Abstract] [Full Text] [Related]

  • 4. 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. PubMed ID: 19911013
    [Abstract] [Full Text] [Related]

  • 5.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10. 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. PubMed ID: 16005139
    [Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12. Facial anomalies in D-2-hydroxyglutaric aciduria.
    Amiel J, de Lonlay P, Francannet C, Picard A, Bruel H, Rabier D, Le Merrer M, Verhoeven N, Jakobs C, Lyonnet S, Munnich A.
    Am J Med Genet; 1999 Sep 10; 86(2):124-9. PubMed ID: 10449646
    [Abstract] [Full Text] [Related]

  • 13. Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).
    Keyser B, Mühlhausen C, Dickmanns A, Christensen E, Muschol N, Ullrich K, Braulke T.
    Hum Mol Genet; 2008 Dec 15; 17(24):3854-63. PubMed ID: 18775954
    [Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15. L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair.
    Van Schaftingen E, Rzem R, Veiga-da-Cunha M.
    J Inherit Metab Dis; 2009 Apr 15; 32(2):135-42. PubMed ID: 19020988
    [Abstract] [Full Text] [Related]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18. [L-2-hydroxyglutaric aciduria, an error of metabolism].
    Van Schaftingen E.
    Bull Mem Acad R Med Belg; 2007 Apr 15; 162(10-12):451-6; discussion 456-7. PubMed ID: 18557388
    [Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20. Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.
    Miousse IR, Watkins D, Coelho D, Rupar T, Crombez EA, Vilain E, Bernstein JA, Cowan T, Lee-Messer C, Enns GM, Fowler B, Rosenblatt DS.
    J Pediatr; 2009 Apr 15; 154(4):551-6. PubMed ID: 19058814
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 10.