2-Hydroxyglutaric aciduria: a case report on an infant with the d-isomeric form with review of the literature-Reference-Cited by-同舟云学术

2-Hydroxyglutaric aciduria: a case report on an infant with the d-isomeric form with review of the literature

Published:1996-11 Issue:1-2 Volume:143 Page:166-169
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Geerts Y,Renier W.O,Bakkeren J,de Jong J

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference19 articles.

1. l-2-Hydroxyglutaric acidemia: a novel inherited neurometabolic disease;Barth;Ann. Neurol.,1992

2. l-2-Hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on l-2-hydroxyacid dehydrogenase;Barth;J. Inher. Metab. Dis.,1993

3. Cardoso, M.L., Santos, M., Alvaes, D., et al. (1993) l-2-hydroxyglutaric aciduria: a new Mediterranean case. Proceedings of the 31th SSIEM annual symposium, Manchester, September 7–10, PO42, SSIEM, Lancaster, UK.

4. d-2-Hydroxyglutaric aciduria: case report and biochemical studies;Chalmers;J. Inher. Metab. Dis.,1980

5. d-2-Hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction;Craigen;Pediatr. Neurol.,1994

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1. Progress in understanding 2-hydroxyglutaric acidurias;Journal of Inherited Metabolic Disease;2012-03-06

2. Phenotypic heterogeneity in the presentation of d-2-hydroxyglutaric aciduria in monozygotic twins;Molecular Genetics and Metabolism;2005-09

3. D-2-Hydroxyglutaric Aciduria;Magnetic Resonance of Myelination and Myelin Disorders;2005

4. Identification of a dehydrogenase acting on D-2-hydroxyglutarate;Biochemical Journal;2004-06-22

5. D-2-Hydroxyglutaric Aciduria and Glutaric Aciduria Type 1 in Siblings: Coincidence, or Linked Disorders?;Neuropediatrics;2004-06