| 1 | CAD, EIEE50 |
| CAD mutations and uridine-responsive epileptic encephalopathy. | |
| Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, Coene KL, Bader I, Holzhacker M, Prokisch H, Venselaar H, Wevers RA, Distelmaier F, Polster T, Leiz S, Betzler C, Strom TM, Sperl W, Meitinger T, Wortmann SB, Haack TB. | |
| Brain 140(2):279-286. doi: 10.1093/brain/aww300. Epub 2016 Dec 21. 2017 | |
| 2 | CAD, EIEE50 |
| Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors. | |
| Ng BG, Wolfe LA, Ichikawa M, Markello T, He M, Tifft CJ, Gahl WA, Freeze HH. | |
| Hum Mol Genet 24(11):3050-7. doi: 10.1093/hmg/ddv057. Epub 2015 Feb 12. 2015 | |