Search Results - Kranendijk, M.

  • Showing 1 - 6 results of 6
Refine Results
  1. 1
    A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: Novel avenues for biochemical and therapeutic studies

    A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: Novel avenues for biochemical and therapeutic studies by Kranendijk, M., Salomons, G.S., Gibson, K.M., Van Schaftingen, E., Jakobs, C., Struys, E.A.

    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  2. 2
    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

    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 acidu... by Kranendijk, M., Salomons, G. S., Gibson, K. M., Aktuglu-Zeybek, C., Bekri, S., Christensen, E., Clarke, J., Hahn, A., Korman, S. H., Mejaski-Bosnjak, V., Superti-Furga, A., Vianey-Saban, C., van der Knaap, M. S., Jakobs, C., Struys, E. A.

    Get full text
    Items that this one cites
    Article
    Save to List
    Saved in:
  3. 3
    P17.3 L-2-hydroxyglutaric aciduria (L2-HGA): Infantile versus adult late-onset manifestation

    P17.3 L-2-hydroxyglutaric aciduria (L2-HGA): Infantile versus adult late-onset manifestation by Illsinger, S., Bültmann, E., Noll, D., Schrader, C., Wolf, A., Das, A.M., Kranendijk, M., Salomons, G., Jakobs, C., Hartmann, H., Ding, X.-Q., Lücke, T.

    Get full text
    Article
    Save to List
    Saved in:
  4. 4
    Evaluation of the sensitivity of miniaturized liquid chromatography-electrospray ionization-mass spectrometry for pharmaceutical analysis

    Evaluation of the sensitivity of miniaturized liquid chromatography-electrospray ionization-mass spectrometry for pharmaceutical analysis by Kranendijk, Martijn, Waterval, Joop C. M., Somsen, Govert W., de Jong, Gerhardus J.

    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  5. 5
    Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

    Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria by Nota, Benjamin, Struys, Eduard A., Pop, Ana, Jansen, Erwin E., Fernandez Ojeda, Matilde R., Kanhai, Warsha A., Kranendijk, Martijn, van Dooren, Silvy J.M., Bevova, Marianna R., Sistermans, Erik A., Nieuwint, Aggie W.M., Barth, Magalie, Ben-Omran, Tawfeg, Hoffmann, Georg F., de Lonlay, Pascale, McDonald, Marie T., Meberg, Alf, Muntau, Ania C., Nuoffer, Jean-Marc, Parini, Rossella, Read, Marie-Hélène, Renneberg, Axel, Santer, René, Strahleck, Thomas, van Schaftingen, Emile, van der Knaap, Marjo S., Jakobs, Cornelis, Salomons, Gajja S.

    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  6. 6
    IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduria

    IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduria by Kranendijk, Martijn, Struys, Eduard A, van Schaftingen, Emile, Gibson, K. Michael, Kanhai, Warsha A, van der Knaap, Marjo S, Amiel, Jeanne, Buist, Neil R, Das, Anibh M, de Klerk, Johannis B, Feigenbaum, Annette S, Grange, Dorothy K, Hofstede, Floris C, Holme, Elisabeth, Kirk, Edwin P, Korman, Stanley H, Morava, Eva, Morris, Andrew, Smeitink, Jan, Sukhai, Rám N, Vallance, Hilary, Jakobs, Cornelis, Salomons, Gajja S

    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:

Search Tools: