1 | OGDH, OGDHD |
A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease | |
Yap ZY, Strucinska K, Matsuzaki S, Lee S, Si Y, Humphries K, Tarnopolsky MA, Yoon WH. | |
J Inherit Metab Dis. Mar;44(2):388-400. doi: 10.1002/jimd.12248. Epub 2020 Jun 24. 2021 | |
2 | OGDH, OGDHD |
2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new case | |
Guffon N, Lopez-Mediavilla C, Dumoulin R, Mousson B, Godinot C, Carrier H, Collombet JM, Divry P, Mathieu M, Guibaud P. | |
J Inherit Metab Dis. 16(5):821-30. doi: 10.1007/BF00714273. 1993 | |
3 | OGDHD |
Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis. | |
Bonnefont JP, et al. | |
J Pediatr 121 : 255-258. 1992 | |