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- L-2-Hydroxyglutaric aciduria: a novel inherited neurometabolic disease.Ann Neurol. 1992; 32: 66-71
- L-2-Hydroxyglutaric aciduria: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyglutaric dehydrogenase.J Inherit Metab Dis. 1993; 16: 753-761
- L-2-Hydroxyglutaric aciduria: two further cases.J Inherit Metab Dis. 1993; 16: 505-507
- L-2-Hydroxyglutaric aciduria: three Australian cases.J Inherit Metab Dis. 1993; 16: 501-504
- L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death.J Inherit Metab Dis. 1996; 19: 335-343
- Macrocephaly as the presenting feature of L-2-hydroxyglutaric aciduria in a 5-month old boy.J Inherit Metab Dis. 1996; 19: 369-370
- L-2-Hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship.Neuropediatrics. 1997; 28: 314-317
- L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients.Brain Dev. 1997; 19: 268-273
- L-2-Hydroxyglutaric aciduria: MRI in seven cases.Neuroradiology. 1998; 40: 727-733
- Chiral compounds in metabolism: a look in the molecular mirror.Eur J Pediatr. 1998; 157: 185-191
- L-2-Hydroxyglutarate dehydrogenase: identification of a novel enzyme activity in rat and human liver. Implications for L-2-hydroxyglutaric acidemia.Biochim Biophys Acta. 1993; 1225: 53-56