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

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.

Am J Hum Genet 88:216-25 (2011)
DOI:10.1016/j.ajhg.2011.01.004