| 1 | DHFR, DHFRD |
| Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. | |
| Banka S, Blom HJ, Walter J, Aziz M, Urquhart J, Clouthier CM, Rice GI, de Brouwer AP, Hilton E, Vassallo G, Will A, Smith DE, Smulders YM, Wevers RA, Steinfeld R, Heales S, Crow YJ, Pelletier JN, Jones S, Newman WG. | |
| Am J Hum Genet 88(2):216-25. 2011 | |
| 2 | DHFR, DHFRD |
| Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease. | |
| Cario H, Smith DE, Blom H, Blau N, Bode H, Holzmann K, Pannicke U, Hopfner KP, Rump EM, Ayric Z, Kohne E, Debatin KM, Smulders Y, Schwarz K. | |
| Am J Hum Genet 88(2):226-31. 2011 | |
| 3 | DHFR, DHFRD |
| Dihydrofolate Reductase Mutations-associated Megaloblastic Anemia and Cerebral Folate Deficiency. | |
| Wijesekara N. | |
| Clin Genet lin Genet. 2011 Mar 9. doi: 10.1111/j.1399-0004.2011.01662.x. [Epub ahead of print] 2011 | |