l-2-Hydroxyglutaric aciduria: Neuropathological correlations and first report of severe neurodegenerative disease and neonatal death
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01799264
Reference17 articles.
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3. Barth PG, Hoffman GF, Jaeken J, et al (1993)l-2-Hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report onl-2-hydroxyacid dehydrogenase.J Inher Metab Dis 16: 753–761.
4. Bergman I, Finegold D, Gartner JC (1989) Acute profound dystonia in infants with glutaric acidemia.Pediatrics 83: 228–254.
5. Ciafaloni E, Ricci E, Shanske S, et al (1992) MELAS: clinical features, biochemistry, and molecular genetics.Ann Neurol 31: 391–398.
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