Kranendijk, M

A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: novel avenues for biochemical and therapeutic studies. [electronic resource] - Biochimica et biophysica acta Nov 2011 - 1380-4 p. digital

Publication Type: Comparative Study; Journal Article

0006-3002

10.1016/j.bbadis.2011.08.006 doi


Brain Diseases, Metabolic, Inborn--enzymology
Case-Control Studies
Cells, Cultured
Chromatography, Liquid
Enzyme Inhibitors--pharmacology
Glutarates--metabolism
Humans
Isocitrate Dehydrogenase--genetics
Ketoglutaric Acids--metabolism
Lymphocytes--drug effects
Mutation--genetics
Sensitivity and Specificity
Tandem Mass Spectrometry