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Journal Abstract Search

149 related items for PubMed ID: 19821142

  • 1. Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria.
    Kranendijk M, Salomons GS, Gibson KM, Aktuglu-Zeybek C, Bekri S, Christensen E, Clarke J, Hahn A, Korman SH, Mejaski-Bosnjak V, Superti-Furga A, Vianey-Saban C, van der Knaap MS, Jakobs C, Struys EA.
    J Inherit Metab Dis; 2009 Dec; 32(6):713. PubMed ID: 19821142
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  • 3. Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patients.
    Wickenhagen WV, Salomons GS, Gibson KM, Jakobs C, Struys EA.
    J Inherit Metab Dis; 2009 Apr; 32(2):264-8. PubMed ID: 19283509
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  • 4. Clinical, genetic and magnetic resonance findings in an Italian patient affected by L-2-hydroxyglutaric aciduria.
    Mazzei R, Ungaro C, Garreffa G, Conforti FL, Mollo A, Sprovieri T, Servillo P, Blasi V, Gallo O, Cerasa A, Lanza PL, Quattrone A.
    Neurol Sci; 2011 Feb; 32(1):95-9. PubMed ID: 20859647
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  • 11. A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair.
    Rzem R, Achouri Y, Marbaix E, Schakman O, Wiame E, Marie S, Gailly P, Vincent MF, Veiga-da-Cunha M, Van Schaftingen E.
    PLoS One; 2015 Feb; 10(3):e0119540. PubMed ID: 25763823
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  • 12. [L-2-hydroxyglutaric aciduria, an error of metabolism].
    Van Schaftingen E.
    Bull Mem Acad R Med Belg; 2007 Feb; 162(10-12):451-6; discussion 456-7. PubMed ID: 18557388
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  • 15. L-2-hydroxyglutaric aciduria: a report of clinical, radiological, and genetic characteristics of two siblings from Egypt.
    Fayed AI, Mohamed MT, Abed E, Meshref M, Ali Mahmoud A.
    Neurocase; 2024 Apr; 30(2):77-82. PubMed ID: 38795053
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  • 18. 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. PubMed ID: 19020988
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