Article
D-2-hydroxyglutaric aciduria.
Journal of child neurology - 1 Mar 1995
Nyhan W L, Shelton G D, Jakobs C, Holmes B, Bowe C, Curry C J, Vance C, Duran M, Sweetman L
Abstract excerpt
Hydroxyglutaric aciduria is detected by gas chromatographic-mass spectrometric analysis, and the D and L forms are quantified by chemical ionization with deuterated internal standards. Patients have recently been described who accumulate the D form, and they appear to be quite different from those with the more common L form. Experience is reported with three patients and an animal model with D-2-hydroxyglutaric...
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