Page 103 - BH-2-3
P. 103
Brain & Heart L2-hydroxyglutaric aciduria
8. Kwong Y, Smith H, Sharma R. L-2-Hydroxyglutaric Aciduria; L‐2‐hydroxyglutarate dehydrogenase gene (L2HGDH)
2012. Available from: https://www.radiopaedia.org [Last variants: A genotype-phenotype study. Hum Mutat.
accessed: July 22, 2024] 2010;31(4):380-390.
doi: 10.53347/rID-20917 doi: 10.1002/humu.21197
9. Nagy A, Bley AE, Eichler F. Canavan disease. In: Adam 11. Topcu M, Jobard F, Halliez S, et al. L-2-Hydroxyglutaric
MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean aciduria: Identification of a mutant gene C14orf160,
LJ, et al., editors. GeneReviews®. Seattle, WA: University of localized on chromosome 14q22.1. Hum Mol Genet.
Washington; 1993-2024. 2004;13(22):2803-2811.
10. Steenweg ME, Jakobs C, Errami A, et al. An overview of doi: 10.1093/hmg/ddh300
Volume 2 Issue 3 (2024) 7 doi: 10.36922/bh.2145
