l-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients
- 1 June 1997
- journal article
- Published by Elsevier in Brain & Development
- Vol. 19 (4) , 268-273
- https://doi.org/10.1016/s0387-7604(97)00574-3
Abstract
No abstract availableKeywords
This publication has 10 references indexed in Scilit:
- A new method for the chiral HRGC assay of L‐2‐hydroxyglutaric acid in urineJournal of High Resolution Chromatography, 1996
- l‐2‐Hydroxyglutaric aciduria: Neuropathological correlations and first report of severe neurodegenerative disease and neonatal deathJournal of Inherited Metabolic Disease, 1995
- 2-Hydroxyglutaric acidurias commentary to Sugito's paper (Brain Dev 1995;17: 139-41)Brain & Development, 1995
- Clinical and pathological study of three Tunisian siblings with L-2-hydroxyglutaric aciduriaActa Neuropathologica, 1994
- l-2-Hydroxyglutarate dehydrogenase: identification of a novel enzyme activity in rat and human liver. Implications for l-2-hydroxyglutaric acidemiaBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1993
- l‐2‐Hydroxyglutaric acidaemia: Clinical and biochemical findings in 12 patients and preliminary report onl‐2‐hydroxyacid dehydrogenaseJournal of Inherited Metabolic Disease, 1993
- l‐2‐Hydroxyglutaric aciduria: Two further casesJournal of Inherited Metabolic Disease, 1993
- l‐2‐Hydroxyglutaric aciduria: Three Australian casesJournal of Inherited Metabolic Disease, 1993
- L‐2‐hydroxyglutaric acidemia: A novel inherited neurometabolic diseaseAnnals of Neurology, 1992
- L‐2‐Hydroxyglutaric aciduria: an inborn error of metabolism?Journal of Inherited Metabolic Disease, 1980