Measurement of d-2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from d-2-hydroxyglutaric aciduria patients
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-009-1104-1
Reference7 articles.
1. Achouri Y, Noël G, Vertommen D, Rider MH, Veiga-da-Cunha M, Van Schaftingen E (2004) Identification of a dehydrogenase acting on d-2-hydroxyglutarate. Biochem J 381: 35–42. doi: 10.1042/BJ20031933 .
2. Gibson KM, ten Brink HJ, Schor DS, et al (1993) Stable-isotope dilution analysis of d- and l-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of d- and l-2-hydroxyglutaric acidemias. Pediatr Res 34: 277–280. doi: 10.1203/00006450-199309000-00007 .
3. Misra VK, Struys EA, O’Brien W, et al (2005) Phenotypic heterogeneity in the presentation of d-2-hydroxyglutaric aciduria monozygotic twins. Mol Genet Metab 86: 200–205. doi: 10.1016/j.ymgme.2005.06.005 .
4. Struys EA, Salomons GS, Achouri Y (2005a) Mutations in the d-2-hydroxyglutarate dehydrogenase gene cause d-2-hydroxyglutaric aciduria. Am J Hum Genet 76: 358–360. doi: 10.1086/427890 .
5. Struys EA, Korman SH, Salomons GS, et al (2005b) Mutations in phenotypically mild d-2-hydroxyglutaric aciduria. Ann Neurol 58: 626–630. doi: 10.1002/ana.20559 .
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