| 1 | EIEE88, MDH1 |
| MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy. | |
| Broeks MH, Shamseldin HE, Alhashem A, Hashem M, Abdulwahab F, Alshedi T, Alobaid I, Zwartkruis F, Westland D, Fuchs S, Verhoeven-Duif NM, Jans JJM, Alkuraya FS. | |
| Hum Genet. Dec;138(11-12):1247-1257. doi: 10.1007/s00439-019-02063-z. Epub 2019 Sep 19. 2019 | |