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  • Title: Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D- and L-2 hydroxyglutaric aciduria.
    Author: Read MH, Bonamy C, Laloum D, Belloy F, Constans JM, Guillois B, Kottler ML, Verhoeven NM, Jakobs C.
    Journal: J Inherit Metab Dis; 2005; 28(6):1149-50. PubMed ID: 16435212.
    Abstract:
    We report the fourth case of combined D-and L-2-hydroxyglutaric aciduria presenting with neonatal encephalopathy and subependymal cysts.
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