Organic acids in cerebrospinal fluid and plasma of patients withl-2-hydroxyglutaric aciduria
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF00711763
Reference10 articles.
1. Barth PG, Hoffmann GF, Jaeken J et al (1992)l-2-Hydroxyglutaric acidemia: a novel inherited neurometabolic disease.Ann Neurol 32: 66?71.
2. Barth PG, Hoffmann GF, Jaeken J et al (1993)l-2-Hydroxyglutaric acidemia: clinical and biochemical findings in 12 patients and preliminary report onl-2-hydroxyacid dehydrogenase.J Inher Metab Dis 16: 753?761.
3. Chang Y-F (1976) Pipecolic acid pathway: the major lysine metabolic route in the rat brain.Biochem Biophys Res Commun 69: 174?180.
4. Gibson KM, Craigen W, Herman GE, Jakobs C (1993a)d-2-Hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder?J Inher Metab Dis 16: 490?496.
5. Gibson KM, Schor DSM, Kok RM et al (1993b) Stable-isotope dilution analysis ofd- andl-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis ofd- andl-2-hydroxyglutaric acidaemias.Pediatr Res 34: 277?280.
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