Search Results - "Kranendijk, Martijn"

Progress in understanding 2-hydroxyglutaric acidurias by Kranendijk, Martijn, Struys, Eduard A., Salomons, Gajja S., Van der Knaap, Marjo S., Jakobs, Cornelis

“…The organic acidurias d -2-hydroxyglutaric aciduria (D-2-HGA), l -2-hydroxyglutaric aciduria (L-2-HGA), and combined d,l -2-hydroxyglutaric aciduria…”
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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

“…Heterozygous somatic mutations in the genes encoding isocitrate dehydrogenase-1 and -2 (IDH1 and IDH2) were recently discovered in human neoplastic disorders…”
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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.

“…The Krebs cycle is of fundamental importance for the generation of the energetic and molecular needs of both prokaryotic and eukaryotic cells. Both enantiomers…”
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D‐2‐hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants by Pop, Ana, Struys, Eduard A., Jansen, Erwin E. W., Fernandez, Matilde R., Kanhai, Warsha A., Dooren, Silvy J. M., Ozturk, Senay, Oostendorp, Justin, Lennertz, Pascal, Kranendijk, Martijn, Knaap, Marjo S., Gibson, K. Michael, Schaftingen, Emile, Salomons, Gajja S.

“…D‐2‐hydroxyglutaric aciduria Type I (D‐2‐HGA Type I), a neurometabolic disorder with a broad clinical spectrum, is caused by recessive variants in the D2HGDH…”
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Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria by Kranendijk, Martijn, Struys, Eduard A, Gibson, K. Michael, Wickenhagen, Wjera V, Abdenur, Jose E, Buechner, Jochen, Christensen, Ernst, de Kremer, Raquel Dodelson, Errami, Abdellatif, Gissen, Paul, Gradowska, Wanda, Hobson, Emma, Islam, Lily, Korman, Stanley H, Kurczynski, Thaddeus, Maranda, Bruno, Meli, Concetta, Rizzo, Cristiano, Sansaricq, Claude, Trefz, Friedrich K, Webster, Rachel, Jakobs, Cornelis, Salomons, Gajja S

“…We performed molecular, enzyme, and metabolic studies in 50 patients with D-2-hydroxyglutaric aciduria (D-2-HGA) who accumulated D-2-hydroxyglutarate (D-2-HG)…”
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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.

“…LC‐ESI‐MS is applied frequently in pharmaceutical analysis. The sample amount is generally not restricted, however with LC‐ESI‐MS, a lack of sensitivity may…”
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